Acanthosis Nigricans is a condition characterized by discoloration and dark patches in the armpits, neck creases, and other regions. It usually has a velvety black appearance. Though it does not have any medical issue, it affects the aesthetic appearance of the person. It is commonly associated with obesity, diabetes, and other lifestyle conditions. Sometimes it is also seen along with a cancerous condition.Acantho  Read More

Acanthosis nevus syndrome is much more severe than the acanthosis nigricansTreatment course-The treatment of this condition is a combination of cosmetic therapy and surgeries accompanied by the treatment for the underlying cause of the disease. This improves both the appearance and theThe standard therapy for epidermal nevi is surgery or ablative CO2 laser treatment.Topical tretinoin c  Read More

Actinic keratosis usually disappears on its own; however, some lesions are difficult to diagnose whether they are normal or they can shift into cancerous lesions.Treatment-In case of Actinic keratosis, it can be difficult to distinguish between noncancerous spots and cancerous ones. So it's best to get evaluated by a doctor.When you have severe actinic keratosis, the doctor may prescribe you a  Read More

Albinism is a rare genetic condition caused by mutations of certain genes that affect the amount of melanin your body produces. Melanin controls the pigmentation (color) of your skin, eyes, and hair.People with albinism have extremely pale skin, eyes, and hair. They are at an increased risk of vision, skin, and social issues; the patients aren't born with the usual amount of melanin pigment.Melanin is a ch  Read More

Chikungunya is a rare viral infection transmitted by the bite of an infected mosquito. It is characterized by a rash, fever, and severe joint pain (arthralgias) that usually lasts for three to seven days. Because of its effect on the joints, Chikungunya has been classified among the Arthritic Viruses. It primarily occurs in tropical areas of the world.  Read More

Atopic dermatitis, commonly called eczema, is a persistent disease; you may need long-standing treatment for these symptoms. The doctor may recommend some home remedies and hygienic practices to sort out the issue.Cure/medications-Topical creams like calcineurin inhibitors such as tacrolimus (Protopic) and pimecrolimus (Elidel) affect your immune system. They are used by people older than age 2 to help  Read More

Auriculotemporal syndrome or the Frey syndrome is a postoperative phenomenon following salivary gland surgery and also in neck dissection, facelift procedures, and trauma that is characterized by excessive sweating and flushing.The previous sympathetic responses of sweating and flushing are now controlled by postganglionic parasympathetic fibers.Mastication, which releases acetylcholine from the parasympat  Read More

Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune deficiency leading to increased susceptibility to infections; and, perhaps most Importantly, a markedly increased susceptibility to cancer of any organ, but especially to leukemia and lymphoma. Some cli  Read More

Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune deficiency leading to increased susceptibility to infections; and, perhaps most Importantly, a markedly increased susceptibility to cancer of any organ, but especially to leukemia and lymphoma. Some cli  Read More

Blue rubber bleb nevus syndrome is also known as Bean syndrome. It is a rare syndrome of venous malformations that arise in the skin and gastrointestinal tract.Risk factors.Since the disease is a genetic disorder, there are no risk factors associated with this disease. However, consanguineous marriage is a leading cause of disease transmission.Some patients may have mutations in genetic levels, which can affect  Read More

Boils (skin abscesses) if they are small, can generally be treated at home by applying warm compresses to relieve pain and promote natural drainage. In severe cases, medications and further treatment may be needed.Apply warm compresses and heated water to a boil. In addition to bringing the pus to the surface, this will lessen the pain.When the boil reaches its peak, repeated soaks will cause it to rupture  Read More

Bullous pemphigoid is an uncommon skin disease characterized by tense blisters on the surface of the skin. Occasionally, the inner lining tissue of the mouth, nasal passages, or conjunctivae of the eyes (mucous membrane tissue) can be involved. The condition is caused by antibodies and inflammation abnormally accumulating in a particular layer of the skin or mucous membranes. This layer of tissue is called the "basement membrane." These antibo  Read More

Carate, also known as Pinta, is a skin disease caused by a spiral-shaped bacterium called Treponema Carateum.The signs and symptoms of Carate are as follows:Carate only affects the skin. It begins as itchy, flat, reddened areas on the arms, hands, face, feet, legs, or neck.These affected areas enlarge and thicken; however, after several months, some three to nine months later, further thickened  Read More

Antibiotic therapy, either given orally or through an IV (full course, usually 5 to 10 days), is the first line of treatment for Cellulitis. Within three days of starting an antibiotic, let your health care provider know whether the infection responds to treatment.TreatmentFor non-purulent cellulitis: Oral administration of 500 mg cephalexin every 6 hours for a minimum of five days. 300 to 450 mg of Clindamycin, adminis  Read More

Chanarin-Dorfman syndrome can affect many systems. All patients have skin findings that are usually present at birth: redness, fine scaling, dark pigmentation and severe itching which leads to scratching and skin-picking (excoriation). The skin appearance is referred to “ichthyosiform nonbullous erythroderma”. Patients also have liver disease with lipid storage which can lead to liver failure. About 60% of patients also have muscle  Read More

Symptoms of classic CHS include: brown or light-colored hair with a silvery sheen light colored eyes white or grayish skin tone nystagmus (involuntary eye movements) frequent infections in the lungs, skin, and mucous membranes Other symptoms that infants or young children with CHS may experience are: poor vision photoph  Read More

Symptoms of classic CHS include: brown or light-colored hair with a silvery sheen light colored eyes white or grayish skin tone nystagmus (involuntary eye movements) frequent infections in the lungs, skin, and mucous membranes Other symptoms that infants or young children with CHS may experience are: poor vision photoph  Read More

Chickenpox infection appears 10 to 21 days after exposure to the virus and usually lasts about five to 10 days. The rash is the telltale indication of chickenpox. Other signs and symptoms, which may appear one to two days before the rash, include: Fever Loss of appetite Headache Tiredness and a general feeling of being unwell (malaise) Once the chickenpox rash appears, it goes throug  Read More

Congenital or Child Naevus (moles) generally don't cause problems unless they show cancerous signs.Cure/medications include:Your child's doctor will need to check the mole over time to watch for any changes that may signal a future risk of skin cancer.On the other hand, if you worry about the mole's appearance or location, you can talk to your doctor about removal.Discussing with the d  Read More

Cross-McKusick-Breen Syndrome, Oculocerebral Syndrome with Hypopigmentation, Cross Syndrome, Depigmentation-Gingival Fibromatosis-Microphthalmia or Kramer Syndrome is an extremely rare inherited disorder characterized by the lack of normal color of the skin and hair.The skin lacks melanin and as a result, is extremely sensitive to exposure to the sun.It is also associated with impaired vision, breathing di  Read More

Gianotti-Crosti Syndrome is a rare skin disease affecting children between the ages of nine months and nine years. Major symptoms may include blisters on the skin of the legs, buttocks and arms. The disorder is usually preceded by a viral infection.  Read More

Symptoms of cutis laxa usually depend upon the exact type of the disorder. The shared symptom is loose, wrinkled skin (elastolysis). Unlike other skin disorders, cutis laxa doesn’t cause easy bruising or scarring. People with cutis laxa also have internal problems, such as abdominal aortic aneurysm. A portion of the aorta enlarges or bulges in people with this condition. Another common symptom is emphysema, in which the lungs don  Read More

Symptoms of cutis laxa usually depend upon the exact type of the disorder. The shared symptom is loose, wrinkled skin (elastolysis). Unlike other skin disorders, cutis laxa doesn’t cause easy bruising or scarring. People with cutis laxa also have internal problems, such as abdominal aortic aneurysm. A portion of the aorta enlarges or bulges in people with this condition. Another common symptom is emphysema, in which the lungs don  Read More

Darier disease, also called keratosis follicularis, is a genodermatosis. It is a rare genetic disorder inherited in an autosomal dominant manner.The responsible mutations occur in the gene that encodes the calcium pump, in the endoplasmic reticulum.The keratinocytes in the skin of the affected person lose cohesion among themselves, which leads to the manifestations.The classic features of the dise  Read More

Blockage of blood vessels/arteries restricts the flow to the blood vessels of the skin & other organs, which is Degos Syndrome. It defects the small intestine and other abdominal organs lesions (damage to skin and lining of organs) due to undetected causes.Diagnosis:Tests in the case of this syndrome present nothing but everything normal. It is necessary to have a skin biopsy if a doubt arises.Symptoms reveal a  Read More

The sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. These symptoms are apparent in early childhood and usually do not worsen with age.Risk factors:People with this condition may also have neurological signs and symptoms. Most affected individuals have leukoencephalopathy, which is a change in a type of brain tissue call  Read More

Unilateral hemidysplasia or the CHILD syndrome as the name suggests, affects one side of the body. Predominantly, it affects the right side as twice as it affects the left side.Risk factorsThis condition has an X-linked dominant pattern of inheritance.CHILD syndrome follows an X-linked mode of inheritance. Hence, males are at a higher risk of inheritance than females. Because males receive one  Read More

Harlequin syndrome is a rare disorder of the autonomic nervous system. The blockage results in hemifacial discoloration, sharply demarcated at the midline. It is a self resolutive disease.Treatment/ managementThough Harlequin syndrome may not need treatment, in cases where the individual may feel socially embarrassed, contralateral sympathectomy may be considered.In this treatment, the nerve bu  Read More

Ichthyosis hystrix, Curth-Macklin type is a rare autosomal dominant disorder characterized by dark hyperkeratotic plaques and palmoplantar keratoderma over knuckles, knees, and elbows.The causative mutations occur in the gene KRT1. The gene is responsible for the supramolecular assembly of keratin intermediate filaments.The histological examination of skin lesion biopsies diagnoses the disease through the  Read More

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat (lipids).  Read More

Dupuytren's contracture is a benign disease whose etiology is similar to that of Peyronie disease, Ledderhose disease, and Garrod disease. It predominantly affects the palmar part of the hands. The disease initiates with nodules along the longitudinal lines of tension.Treatment /managementTreatment options consist conservative management, needle aponeurotomy, collagenase injection, or surgical resection  Read More

The treatment of dyskeratosis follicularis vegetans or Darier's disease (DD) is directed toward the specific symptoms that are apparent in each individual. Aside from symptom management and behavioral modifications to avoid triggers, currently, no validated treatments for dyskeratosis follicularis vegetans are available.Symptomatic treatments include:Sunscreen, loose clothing, moisturizing creams and av  Read More

E-d syndrome is known as Ehlers- Danlos syndrome, EDS, or elastic skin. This is a type of disorder that mainly affects connective tissue. It is basically a genetic disorder.E-d syndrome is a dominant or recessive genetic condition.E-d syndrome occurs when only a single copy of an abnormal gene is inherited from either parent or can be the result of a new mutation (gene change) in the affected individual.  Read More

A family history of the illness is the sole recognized risk factor for ectodermal dysplasia, rapp-hodgkin type (RHS). It is believed that RHS is an autosomal dominant characteristic. There have only been roughly 40 cases documented in academic journals, making it extremely uncommon.The TP73L gene, which generates various forms of the p73-like tumor protein, is thought to be the source of Rapp-Hodgkin syndrome (RHS)  Read More

Ectodermal dysplasias is, regrettably, incurable. Instead, the objective is to effectively control the symptoms so that the person can live a healthy life with a high quality of life.Each person will receive a different treatment regimen because each kind of ectodermal dysplasia has a different set of symptoms. While some people just have minor symptoms that may be treated, others may have serious health problems t  Read More

Ehlers- Danlos syndrome, EDS, or elastic skin, is a type of disorder that mainly affects connective tissue. It is basically a genetic disorder.E-d syndrome is a dominant or recessive genetic condition.E-d syndrome occurs when only a single copy of an abnormal gene is inherited from either parent or can be the result of a new mutation (gene change) in the affected individual.There are 50% chance of  Read More

Empeines, also called Pinta, is a disease that is very rare and spread by infections that affect the skin. Pinta is a disease which affected by Treponema carateum bacteria, which is spiral-shaped bacteria. This also causes diseases like yaws, and syphilis.This disease is transmitted by direct skin-to-skin contact and nonsexual contact.The disease does not affect other body organs, but it affects exposed ar  Read More

Epidermal nevus syndromes encompass a wide variety of disorders. The specific symptoms present, severity and prognosis can vary greatly depending on the specific type of ENS and the presence and extent of associated extra-cutaneous symptoms. The onset and progression of these disorders varies greatly as well. Epidermal nevi have also been classified as “hamartomas”, a rather vague and ambiguous term for benign tumor-like ma  Read More

An accurate diagnosis is crucial to properly inform and counsel parents about epidermolytic hyperkeratosis or epidermolytic ichthyosis (EI). Prenatal diagnosis and genetic counseling are other options.Infection, secondary sepsis, and electrolyte imbalance are all heightened risks for newborns with epidermolytic ichthyosis who have denuded skin. The neonatal ICU should receive these infants so that it can monitor th  Read More

Cells that have Epiloia cease dividing when they ought to. This means that many parts of your body can develop tumours. While they are not cancerous, the areas where they are growing may experience issues. There are Treatments available that can reduce the tumours and increase your comfort.Cure or medications for EpiloiaIn case of seizures, anti-seizure medications may be prescribed. Other medications m  Read More

The majority of Erythema Multiforme infections, according to doctors, are thought to be caused by other infections that trigger the body's immune system to assault skin cells. Unfortunately, it's not always clear to doctors what brought on your rash.On the basis of the patient's medical history and physical examination, Erythema Multiforme is clinically diagnosed. It is imperative to enquire about recent medication  Read More

Erythema Multiforme Bullosum can range from mild to severe. The skin rash caused by erythema multiforme minor is typically caused by a modest disease. Mucous membranes may be severely affected by erythema multiforme major, which can be severe mucous membranes, and usually requires more intensive therapy.Risk factors for erythema multiforme bullosumThese are the risk factors involved to Erythema Multifor  Read More

Erythema Multiforme Exudativum is a form of reoccurring skin condition usually mild and happens due to viral infection or medicinal reaction.Complications:Though this is a curable disease scars are not the thing to worry about. It heals without leaving marks and with no further problems. But the risk of EME coming back is there as follows:If the disease is from the virus Herpes Simplex.An  Read More

The main symptom is red, painful bumps on the lower part of your legs. Sometimes these bumps can also appear on your thighs, arms, torso, and face. The lumps can be one-half inch up to 4 inches. You may have anywhere from two to 50 of them. Erythema nodosum bumps are painful and they may feel hot. They start out red, and then turn purple, looking like bruises as they heal. They also flatten out while healing. The bumps  Read More

An abnormal increase in RBC and disbalance in hemoglobin flow in blood results in skin rashes, Clotting, and an enlarged spleen; these disorders are called Erythremia.This disease can affect the lungs and blood circulatory system severely if the symptoms are left ignored and not treated immediately.Causes/risk factors:It is a common rash disease that can increase due to skin friction, acne, and po  Read More

Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood cells. The major symptom of this disorder is hypersensitivity of the skin to sunlight and some types of artificial light, such as fluorescent lights (photosensitivit  Read More

A parent can pass on the faulty gene that causes Fabry disease to a child.Fabry Disease, Anderson-Fabry disease or lysosomal storage disease is an inherited disorder.Children inherit a mutated galactosidase alpha -GLA gene on the X chromosome from a parent.The GLA gene produces an alpha-GAL enzyme that helps break down fatty substances -sphingolipids.People who inherit a defective GLA  Read More

Focal dermal hypoplasia (FDH), commonly known as Goltz syndrome, primarily affects the development of the skin, hands, feet, and eyes. It is considered one of the Ectodermal dysplasia types, which is a sort of heritable condition that affects how the hair, teeth, nails, and glands develop and work. About 90% of all FDH cases are female, according to statistics.Numerous bone abnormalities, some of which may be prese  Read More

Fraser syndrome is characterized by multiple physical abnormalities. Failure of the eyelids to form properly (cryptophthalmos) is the most common abnormality, seen in 93% of affected individuals. Other less common forms of cryptophtalmos seen in these individuals are only one eye completely covered by skin, or one or both eyes partially covered. In addition, there are other possible malformations of the eyes such as small eyes (microph  Read More

The severe form of the disease is called typical mucolipidosis IV, and the mild form is called atypical mucolipidosis IV. Approximately 95 percent of individuals diagnosed with this condition have the severe form. The symptoms and physical findings associated with mucolipidosis IV are usually apparent within three to eight months following birth. The first recognized symptoms are usually clouding (opacity) of the cornea and eye movemen  Read More

When gangrene affects your skin, signs and symptoms may include: Skin discoloration — ranging from pale to blue, purple, black, bronze or red, depending on the type of gangrene you have Swelling or the formation of blisters filled with fluid on the skin A clear line between healthy and damaged skin Sudden, severe pain followed by a feeling of numbness A foul-smelling discharge leakin  Read More

Glycolipid lipidosis is known as Fabry disease. It is caused by mutation or deficiency in galaactosidase-GLA located in X- Chromosomes and by abnormal accumulations of neutral glycolipids in blood vessel cells.This is a generic disorder that passes through gene mutation from parents, males with X-chromosomes linked by Fabry disease that passes GLA gene to all their Daughters but never to sons.But Females h  Read More

Grover’s disease can usually be treated using topical medications, but sometimes requires oral medication, injections, or light therapy to treat it.Cortisone cream: Your dermatologist will prescribe you a cortisone cream if you have a small blister or outbreak that doesn’t itch.Tetracycline: If you have larger outbreaks that itch and cover the entire trunk, your dermatologist may prescribe the  Read More

Guttate scleroderma is one of the abandoned names of a skin disease, currently called lichen sclerosis (LS). It is a chronic, inflammatory, mucocutaneous disorder of genital and extra-genital skin.The exact etiology has not been established. Some of the causes include autoimmune abnormalities, genetic factors, hormonal influence, and infections.In the early stages, symptoms include luminal hyperkeratosis a  Read More

The signs and symptoms of Gottron syndrome vary somewhat from one person to another. Because this condition is so rare, it is difficult to get a complete picture of the core features that define the syndrome. Generally, from birth-onwards, children with Gottron syndrome appear older than their actual age. The skin is unusually thin, taut, and parchment-like on the hands and feet (distal extremities) and may even involve the face. The h  Read More

Mutation in gene GL13 causes the disorders in the body from infancy collectively called Hall-Pallister Syndrome.It affects people with uneven development of many body parts of the body like extra fingers, toes, or skin between fingers.Diagnosis:The patient with HPS are infants, and the defects in their palms and toes are the prominent signs of diagnosing the disease. But to rule out the confusion  Read More

Associated symptoms and signs vary greatly in range and severity from case to case. The principal features of Hallermann-Streiff syndrome include abnormalities of the skull (cranium) and certain bones of the face (known as dyscephaly); distinctive facial features; ocular defects; dental anomalies; and/or proportionate short stature. In many cases, additional abnormalities are also present. Many affected infants have an unusually shaped  Read More

Associated symptoms and signs vary greatly in range and severity from case to case. The principal features of Hallermann-Streiff syndrome include abnormalities of the skull (cranium) and certain bones of the face (known as dyscephaly); distinctive facial features; ocular defects; dental anomalies; and/or proportionate short stature. In many cases, additional abnormalities are also present. Many affected infants have an unusually shaped  Read More

Hay-wells syndrome, also termed Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome, is a rare autosomal inherited disorder that occurs due to the changes in the TP63 gene.There is no cure for the syndrome. Certain treatment plans are implemented to manage the symptoms and prevent complications in the affected individuals. It includes,Antibiotics – People with this syndrome will b  Read More

Usually, hematoma underneath the skin and within soft tissues such as muscles can be treated at home using the following methods:Elastic bandages help to keep swelling at bay.Elevating the affected area to alleviate swellingUsing ice packs multiple times each day for the first 24 to 48 hours to minimize swelling and soreness.Warm compresses after 2 days of ice to aid in the fluid's absorp  Read More

HS is divided into mild, moderate, and severe forms of the disease. Classification is based on the amounts of hemoglobin, reticulocytes, and bilirubin and the amount of spectrin in red blood cells. Hemoglobin transports oxygen in the blood. Reticulocytes are immature red blood cells. Bilirubin is formed in the liver when hemoglobin is broken down. Spectrin is a protein that helps keep the shape of a cell. Decreased hemoglobin and spectrin and  Read More

Angioedema or Hives is usually treated by avoiding known triggers to the allergic reaction.The prescription drugs for the treatments of hives and angioedema may include:Antihistamines: It is the standard treatment for hives and angioedema. These medications reduce itching, swelling and other allergy symptoms.Drugs that suppress the immune system: Drugs that can calm an overactive immune system  Read More

Human cowpox infection is a relatively uncommon zoonotic skin infection that is mostly found in European nations. Cowpox virus (CPXV) is a member of the Poxvirus family's Orthopoxvirus genus. Contrary to popular belief, most cowpox infections are spread to human beings by domesticated cats and rats. Rodents are cowpox's natural reservoir. Cows, cats, zoo animals, and humans are CPXV's unintentional hosts.Signs and  Read More

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat (lipids).  Read More

Ichthyosis erythrokeratolysis hiemalis is a very rare ichthyosis foam that is described in firstly South Africa and then identified in other countries with a determined link to south Africa.Ichthyosis erythrokeratolysis hiemalis, called KWE, is an inherited disease and follows an autosomal mode of inheritance equally to males and females.It is associated with duplication of an area of a chromosome that inc  Read More

Ichthyosis fetalis is autosomal recessive congenital disorder that affects the outer layers of the skin.This disorder is affected by problems in the ABCA12 named gene; the role of the ABCA12 gene is to protect the skin's outer layer from microorganisms by maintaining the skin's protective barrier. This gene works to transport the keratinocyte transmembrane lipid-protein.A dysfunction in this workin  Read More

A genetic disorder called harlequin ichthyosis is transmitted by autosomal recessive genes.No cure availableYour baby will need lifelong care for their condition once they are released from the NICU. They will need extensive daily care to exfoliate dead skin and keep their skin moisturized.After initial therapy, care becomes a critical component of the equation because there is no cure for Harl  Read More

Ichthyosis Hystrix Curth Macklin Type is an uncommon inherited skin condition. It is characterised by mild to severe scaling of the skin (ichthyosis). The scaly, thickened skin patches can range in severity from mild to severe and can develop on practically any portion of the body. Patches of excessively thick, hard skin can occur practically anywhere on the body in ichthyosis hystrix, Curth-Macklin type. Clinical experts have  Read More

Epidermal nevus syndromes (ENSs) are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extra-cutaneous abnormalities, most often affecting the brain, eye and skeletal systems. Epidermal nevi are overgrowths of structures and tissue of the epidermis, the outermost layer of the skin. The different types of epidermal nevi can vary in size, number, location, distribut  Read More

Newborns with Ichthyosis Netherton syndrome have Skin that is reddish (erythroderma) and occasionally has a thick, parchment-like skin covering. Scaly and R patches are predominant.Trichorrhexis, sometimes known as "bamboo hair," causes hair shafts to be brittle and break readily, resulting in short, sparse hair.The scaling may have a characteristic circular pattern in older kids and adults (icht  Read More

Ichthyosis Sjogren Larsson syndrome is an autosomal recessive defect in the gene that codes for the enzyme Fatty Aldehyde DeHydrogenase (FALDH).The gene defect leads to a deficiency of the enzyme. FALDH plays the role of oxidative metabolism of long-chain aliphatic aldehydes of fatty acids.Its deficiency causes the accumulation of fatty acids and alters cell membrane integrity skin, eyes, and central nervo  Read More

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat (lipids).  Read More

Specific treatment for incontinentia pigmenti has not yet been described. However, the management of the disease requires a multidisciplinary approach and needs consultation with different specialists from time to time.Lesions appear within a few months from birth but disappear by adolescence. However, the lesions recur and require to be managed.All stage lesions must be kept cool and dry.The patients develop hypo  Read More

Each patient's unique symptoms are targeted in the treatment of Infantile Myofibromatosis (IM).Surgery is the primary treatment for people with infantile myofibromatosis, and it is carried either to lessen the risk of complications or increase prognosis.The coordinated efforts of a group of professionals may be necessary throughout treatment.To arrange a child's treatment, pediatricians, o  Read More

Johnson –stevens disease is a very rare syndrome with potentially fatal skin reactions in which loss of skin occurs and mucosal membranes accompanied by systemic symptoms is shown in some case. For these conditions, in 80% of cases, the reactions from medications are responsible.This condition requires intensive care or burn care unit in hospitalization,If a person is taking unessential medication  Read More

Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. A wide variety of additional symptoms affecting multiple different organ systems can potentially occur. The specific symptoms associated with Kabuki syndrome can vary greatly from one person to another. The exact cause  Read More

The following are keloids treatments. One or more ways may be appropriate for your scenario. Keloids can grow back, sometimes larger than before, even after effective flattening or excision. You might also create new ones.Wound healing: Compression dressings composed of elastic cloth or other materials may be used as the first treatment choice for newer keloids. This treatment is frequently used to remove keloids a  Read More

Keratitis ichthyosis deafness (KID) syndrome is a rare, genetic, multi-system disorder. It is characterized by defects of the surface of the corneas (keratitis), red, rough thickened plaques of skin (erythrokeratoderma) and sensorineural deafness or severe hearing impairment. The skin on the palms of the hands and soles of the feet and the nails may be affected. KID syndrome belongs to a group of skin disorders marked by dry, scaly skin known  Read More

Keratolytic winter erythema is distinguished by cyclical patchy redness and skin thickening of the palms and soles, which is followed by the formation of dry blisters that peel in an extending pattern. A thickish peel covers the losing skin. The exposed surface skin looks to be glazed. These symptoms normally occur during infancy or youth, and the disease improves with maturity.Risk FactorsKWE is inheri  Read More

Haim-Munk syndrome is a rare genetic disorder characterized by the development of red, scaly thickened patches of skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis), frequent pus-producing (pyogenic) skin infections, overgrowth (hypertrophy) of the fingernails and toenails (onychogryposis), and degeneration of the structures that surround and support the teeth (periodontosis). Periodontosis usually results in th  Read More

Seborrheic keratosis is not harmful and does not require treatment. It can be removed if they irritate you.Seborrheic keratosis can be removed using one or more of the following techniques:Growth is being frozen: Cryotherapy (freezing a growth with liquid nitrogen) can be an effective technique to eradicate seborrheic keratosis. It does not usually work on thicker, elevated growths. This procedure carri  Read More

The Koebner disease or phenomenon affects persons who have specific skin conditions, most often psoriasis. It can occur in persons who have warts, vitiligo, or lichen planus. An accident, cut, or burn might result in new lesions that seem similar to the initial skin illness.There is no known treatment for the Koebner phenomena.Treatment is usually the same because the phenomenon is essentially an extens  Read More

If you're allergic to latex, you're likely to have symptoms after touching latex rubber products, such as gloves or balloons. You can also have symptoms if you breathe in latex particles that are released into the air when someone removes latex gloves. Latex allergy symptoms range from mild to severe. A reaction depends on how sensitive you are to latex and the amount of latex you touch or inhale. Your reaction can become worse with ea  Read More

Launois-Bensaude syndrome is a rare condition consisting of adipose masses symmetrically. It is distributed mainly in the upper part of the body. a condition marked by symmetrical, painless diffuse fat deposits under the skin of the arms, legs, upper trunk, and neck.Though its specific mode of inheritance is unknown, the ailment is believed to be genetic; it could be a mitochondrial DNA disease. This condition usually co  Read More

Medications and other therapies may be used to alleviate itching, relieve pain, and improve healing in lichen planus. Therapy can be difficult. Consult your doctor to assess the potential advantages against any treatment adverse effects.Corticosteroids: Prescription corticosteroid cream or ointment is usually the first line of treatment for lichen planus. If it doesn't work and your disease is serious or spread  Read More

A rare skin disorder called Lichen Planus Sclerosus Atrophicus typically affects the anal or vaginal regions of the body. However, your torso, breasts, and upper arms may also be impacted.After menopause, the illness primarily affects adult women. But it also spread to others.Cause of Lichen Planus SclerosusThe cause of Lichen Planus Sclerosus in certain persons is unknown to doctors. They specula  Read More

Cure or Medications for the Lichen Ruber PlanusWhile there's no known cure for Lichen Ruber Planus, some medications that treat the symptoms may potentially be able to pinpoint a potential underlying cause. The following drugs are frequently prescribed:Retinoids: They are used topically or taken orally and are related to vitamin A. Corticosteroids: This can be used orally, topica  Read More

A rare disorder called lichen sclerosus causes uneven, white skin that seems thinner than usual. The anal and genital regions are typically affected.Lichen sclerosus can affect anyone, however, postmenopausal women are more susceptible.Lichen sclerosus does not have a known aetiology. A hormone imbalance or an overactive immune system might be a reason.The risk of lichen sclerosus at a specific ar  Read More

Papular urticaria, usually called hives, is characterized by large numbers of very itchy red bumps (papules) that come and go every few days over a period of a month or so. The bumps are usually between 0.2 and 2 cm. in size and some may develop into fluid-filled blisters (bullae). This condition is usually triggered by allergic reactions to insect bites, sensitivity to drugs, or other environmental causes. In some cases, swelling of the soft  Read More

Epidermal nevus syndromes (ENSs) are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extra-cutaneous abnormalities, most often affecting the brain, eye and skeletal systems. Epidermal nevi are overgrowths of structures and tissue of the epidermis, the outermost layer of the skin. The different types of epidermal nevi can vary in size, number, location, distribut  Read More

Epidermal nevus syndromes (ENSs) are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extra-cutaneous abnormalities, most often affecting the brain, eye and skeletal systems. Epidermal nevi are overgrowths of structures and tissue of the epidermis, the outermost layer of the skin. The different types of epidermal nevi can vary in size, number, location, distribut  Read More

Lipoma is usually painless and harmful, but if it is bothering you, or growing further, then it needs to be removed.Lipoma treatments include:Surgical removal: Lipomas are mostly removed through surgery by cutting them out. However, there are chances that they may occur again. Since the surgery may leave a scar or get the area bruised, minimal excision extraction may be performed so that it results in l  Read More

Localized Epidermolysis bullosa simplex (EBS) is a genetic disease, which means that it is caused by one or more genes not working correctly.The majority of EBS subtypes are inherited in a dominant manner. This means that an affected parent passes them on to half of his or her offspring. EBS affects both men and women equally.Epidermolysis bullosa simplex is often transmitted in an autosomal dominant manne  Read More

Malignant melanoma dysplastic nevus type is a mole that is between a benign mole and melanoma. When examined under a microscope, the cells of a dysplastic nevus exhibit abnormal characteristics and growth patterns, but not to the extent that they are malignant.Dyplastic nevi are caused by a combination of genetics and sun exposure. They can appear on regions of the skin that have had little or no sunlight exposure.  Read More

Morgagni-Stewart-Morel syndrome is in-short, known as MSM syndrome.The exact cause of the disease is yet to be unraveled, and its manifestations are yet to be completely described.The disease was known to cause neurological manifestations.However, endocrinal and metabolic abnormalities have been found to be associated with the disease.The autosomal dominant genetic mutations have been bel  Read More

The specific symptoms and severity of syringomyelia can vary greatly from one person to another. Some individuals may not have any noticeable symptoms (asymptomatic); others may have a variety of symptoms that can progress to cause significant disability. It is important to note the highly variable nature of syringomyelia and to realize that affected individuals can have different sets of symptoms and a different rate of progression (or no pro  Read More

Mucha Habermann disease is a rare skin disorder, which is a part of a spectrum of disorders called Pityriasis Lichenoides Et Varioliformis Acula.Higher patient age, sepsis, systemic and mucosal involvement, and literature data of 119 FUMHD case reports, were four key unfavorable risk variables relating to a death result.Risk factorsThe affected persons develop hypersensitivity to infectious agents  Read More

Nail-patella syndrome (NPS) is a rare genetic disorder that is usually apparent at birth or during early childhood. Although the symptoms and physical characteristics associated with NPS may vary, characteristic abnormalities tend to include improper development (dysplasia) of the fingernails and toenails; absence (aplasia) and/or underdevelopment (hypoplasia) of the knee caps (patellae); underdevelopment of certain bones and/or webbing of ski  Read More

Necrotizing fasciitis (flesh-eating disease) progresses rapidly and can result in death hence an early diagnosis and providing appropriate treatment is of utmost importance.Early medical treatment is often presumptive; antibiotics should be started as soon as this condition is suspected.Surgical debridement is the standard treatment for necrotizing fasciitis.Aggressive Necrotizing fasciitis should  Read More

The most common symptom associated with neonatal lupus is a rash that consists of reddish, ring-like skin lesions and resembles the rash associated with systemic lupus erythematosus. The rash is temporary (transient), usually developing during the first few weeks of life and clearing up at some point during the next several months. In rare cases, skin lesions may persist into childhood. The face and scalp are most commonly affected. The raccoo  Read More

Nodular Nonsuppurative Panniculitis is a rare skin disorder. It is also known as Weber-Christian disease (WCD) or Idiopathic lobular panniculitis.Nodular Nonsuppurative Panniculitis affects men and women of all ages, and mostly it affects adult women. There are fewer chances of nodular nonsuppurative panniculitis affecting children.The nodules are approx 1-2 centimeters large in size. These mostly affect t  Read More

Henoch-Schonlein purpura is a rare inflammatory disease of the small blood vessels (capillaries) and is usually a self-limited disease. It is the most common form of childhood vascular inflammation (vasculitis) and results in inflammatory changes in the small blood vessels. The symptoms of Henoch-Schonlein purpura usually begin suddenly and may include headache, fever, loss of appetite, cramping abdominal pain, and joint pain. Red or purple sp  Read More

Ochronosis is a type of condition triggered by malarial drugs, skin-lightening creams, and over-exposure to the sun. These are very difficult conditions for treatment and the results are unpredictable and inconsistent.These are various ways for treatments are as follows:Nonpharmacological measures: Sun protective clothes, goggles, and hats are important. Uses of offending agents must be stopped, and sun  Read More

Oculocutaneous albinism (OCA) is a group of rare inherited disorders characterized by a reduced amount or complete lack of melanin pigment in the skin, hair, and eyes. These conditions are caused by mutations in specific genes that are necessary for the production of melanin pigment in specialized cells called melanocytes. Absent or insufficient melanin pigment results abnormal development in the eyes resulting in vision abnormalities and ligh  Read More

Idiopathic nodular panniculitis usually begins gradually. Abnormal bumps or masses (nodules) appear in the fatty layer under the skin (subcutaneous fat) of the legs, thighs and buttocks. In some patients, the arms, abdomen, and/or face may be involved. These nodules are usually 1-2 centimeters wide and may be either painful and tender or painless. In some patients, the affected area may become blue and red (erythema), ulcerated (open sore with  Read More

Papillon-Lefèvre syndrome is characterized by the development of dry scaly patches of skin (hyperkeratosis) usually around the age of one to five years. These patches are usually confined to the undersides of the hands and feet, but may spread to the knees and elbows. Rarely, the upper portions of the hands and feet, the eyelids, the lips, the cheeks, and/or other areas of the body may also be affected. Affected skin may be unusually re  Read More

Cholinergic urticaria is a relatively common disorder of the immune system characterized by an immediate skin reaction (hypersensitivity) to heat, emotional stress, and/or exercise. Symptoms of the disorder include the appearance of distinctive small skin eruptions (hives) with well-defined borders and pale centers, surrounded by patches of red skin (wheal-and-flare reaction). These red areas are typically intensely itchy (pruritus). Occasiona  Read More

Pityriasis rosea is a rash that often begins as an oval spot on the face, chest, abdomen or back. This is called a herald patch and may be up to 4 inches across. The patients suffering from this disease develop smaller spots that sweep out from the middle of the body in a shape that looks like drooping pine-tree branches. The rash can be itchy.usually, the symptoms and the condition settle down on their own without any m  Read More

Precancerous dermatosis is a skin disease marked by scaly or thickened patches on the skin and often caused by prolonged exposure to arsenic.The patches often occur on sun-exposed areas of the skin and in older white men.These patches may become cancerous.There are many types of this cancerous lesion, including Bowen's disease, actinic keratosis, etc.Precancerous skin growths can have  Read More

Radiation disease doesn’t have any cure, but a few medications and therapy can extract some radiation from the body. People who are exposed to radiation should seek medical attention as soon as possible.The treatments for Radiation disease are as follows:DTPA (diethylenetriamine penaacetic acid): It binds to the radioactive elements present in the body, such as americium, plutonium, and curium. Fu  Read More

Radiation illness doesn’t have any cure, but a few medications and therapy can extract some radiation from the body. People who are exposed to radiation should seek medical attention as soon as possible.The treatments for Radiation illness are as follows:DTPA (diethylenetriamine penaacetic acid): It binds to the radioactive elements present in the body, such as americium, plutonium, and curium. Fu  Read More

The treatment goals for radiation sickness are to prevent further radioactive contamination; treat life-threatening injuries, such as from burns and trauma; reduce symptoms; and manage pain. Decontamination Decontamination is the removal of as much external radioactive particles as possible. Removing clothing and shoes eliminates about 90 percent of external contamination. Gently washing with water and soap removes additional  Read More

Radiation syndrome doesn’t have any cure, but a few medications and therapy can extract some radiation from the body. People who are exposed to radiation should seek medical attention as soon as possible.The treatments for Radiation syndrome are as follows:DTPA (diethylenetriamine penaacetic acid): It binds to the radioactive elements present in the body, such as americium, plutonium, and curium.  Read More

Recessive x-linked ichthyosis is a genetic skin disorder that results in extremely dry skin. Since it is a genetic disorder it is not curable, but the sign and symptoms can be controlled by the following methods.Skin softening cream and location: This disease is accompanied by fine or rhombus adherents' light gray or dark brown scaling on the skin. It can be treated with softening cream. These creams moisturize  Read More

Familial dysautonomia is a rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish heritage. It is characterized by diminished sensitivity to pain, lack of overflow tearing in the eyes, a decrease in the number of knob-like projections that cover the tongue (fungiform papillae), unusual fluctuations of body temperature, and unstable blood pressure. Symptoms of this disorder are appar  Read More

Ringworm (tinea corporis) is a skin condition caused by a fungal infection, and no ringworm is involved in it. The name comes from the appearance of circular rashes on the skin.Here are simple cures and medications to treat ringworm.Topical antifungal: Over-the-counter antifungal creams kill the fungus and promote healing. Effective antifungal medications include miconazole, clotrimazole, and terbinafin  Read More

Initial symptoms can include fever (usually low grade), generalized redness, and tenderness of the skin. Onset of symptoms is usually rapid. Some individuals may experience nonspecific symptoms that develop before the skin symptoms including a sore throat and inflammation of the eyelids known as conjunctivitis. Initially the affected skin may have a sandpaper-like feel before becoming red and wrinkled. Areas prone to movement are most  Read More

Rosacea is a skin disorder that causes flushing or blushing of blood vessels in the face.Sometimes small bumps filled with pus appear on the skin that causing a burning and stinging sensation on the face.The cause of Rosacea is still unknown, but the doctor states that it may be the result of genes, bacteria, mites bites, or blood vessel trouble.A swollen bulb-shaped nose, large pores, broken bloo  Read More

The symptoms and physical findings associated with Rosai-Dorfman disease vary greatly from one person to another depending upon the extent of the disorder and the specific organ systems affected. Some cases may only affect the lymph nodes and may not cause any serious complications. Less often, some cases may affect various organ systems of the body and may potentially cause serious complications. Any organ system of the body may become affect  Read More

Rothmund-Thompson syndrome is a genetic condition inherited in an autosomal recessive manner.It has been discovered that two-thirds of people with RTS have RECQL4 gene mutation.This gene produces a protein involved in the replication and repair of DNA, the body's genetic material, whose holistic function is yet to be discovered.Since this gene does not show identifiable mutations in around one  Read More

Rothmund-thomson syndrome affects various parts of the body such as skin, teeth and hair, eyes, and bones.It is a genetic disorder developed by the mutation of the RECQL-4 gene and inherited through the autosomal recessive pattern( the child carries one affected gene from each parent).The infant affected by this syndrome develops a red, blistering rash on the face that may later spread to arms, legs buttoc  Read More

Early signs of SSSS usually begin with the hallmark symptoms of an infection: fever irritability fatigue chills weakness lack of appetite conjunctivitis (an inflammation or infection of the clear lining that covers the white portion of the eyeball) You may also notice the appearance of a crusty sore. The sore typically appears in the diaper region or aro  Read More

Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune deficiency leading to increased susceptibility to infections; and, perhaps most Importantly, a markedly increased susceptibility to cancer of any organ, but especially to leukemia and lymphoma. Some cli  Read More

The first symptoms of smallpox usually appear 10 to 14 days after you're infected. During the incubation period of seven to 17 days, you look and feel healthy and can't infect others. Following the incubation period, a sudden onset of flu-like signs and symptoms occurs. These include: Fever Overall discomfort Headache Severe fatigue Severe back pain Vomiting, possibly  Read More

Stretch marks, medically known as striae, are seen as long, narrow, rippled marks that develop due to rapid stretching or shrinking of the skin. They can be red, brown, purple, black or pink in color. These marks can appear on any body part, but they are most common on stomach, upper arms, breasts, thighs, and lower back.Over-the-counter treatmentRetinol and Hyaluronic acid creams: People with stretch m  Read More

Sweet syndrome is a rare skin disorder characterized by fever, inflammation of the joints (arthritis), and the sudden onset of a rash. The rash consists of bluish-red, tender papules that usually occur on the arms, legs, face or neck, most often on one side of the body (asymmetric). In approximately 80 percent of cases, Sweet syndrome occurs by itself for no known reason (idiopathic). In 10 to 20 percent of cases, the disorder is associated wi  Read More

PXE results in a variety of signs and symptoms that vary in their number, type, and severity from person to person. Certain effects of PXE can cause serious medical problems, while others have less impact. Effects may include: skin changes, changes in the retina of the eye that may result in significant loss of central vision, changes in the cardiovascular system that may involve calcification of arteries and decreased blood flow in the arms a  Read More

The atypical growth of connective tissue caused by an autoimmune disorder is Systemic Sclerosis; the appearance and texture of skin change in this disease.Excess immune response destroys healthy tissue as an autoimmune disease. The immune system in this disease thinks the tissue in a body is an infection.Causes of SS:Systemic Sclerosis is caused due to following reasons:Genetics: Higher inci  Read More

The condition known as Torular Meningitis, which is caused by the bacterium Mycobacterium tuberculosis, is characterised by inflammation of the membranes (meninges) surrounding the brain or spinal cord. The problem of Torular Meningitis appears gradually. Antibiotics and other medications are typically effective in treating the infection.Cause of the Torular MeningitisA rare complication of Torular Meni  Read More

Transient Acantholytic Dermatosis (TAD) is also named Grover's disease. It is a rare transient skin disorder. It appears as small, firm, raised red lesions on the skin of the chest and back. It is a temporary skin disease. The red spots that appear are very itchy.Middle-aged men, i.e. men over 50 years of age are mostly affected by this disorder. How transient acantholytic dermatosis is caused is yet not known.  Read More

The symptoms of PCT can vary greatly from one individual to another. Skin abnormalities characterize this disorder. Affected individuals are abnormally susceptible to damage of the skin from sunlight (photosensitivity). Extremely fragile skin that can peel or blister on minimal impact is common. Affected individuals may develop blistering skin lesions on areas of the skin that are frequently exposed to the sun such as the hands and face. These  Read More

If you’re experiencing CU, you may have: wheals (small, raised bumps on the skin) redness around the bumps itching These bumps typically develop within the first six minutes of exercise. Your symptoms may worsen for the next 12 to 25 minutes. Although wheals can appear on your body, they often begin on your chest and neck first. They may then spread out to other areas. These bump  Read More

Papular urticaria is an allergic reaction caused by insect bites, sensitivity to drugs, or other environmental causes.The risk of this disease is on 1-6-year-old children, Fleas and mosquito are the insects that are associated with this type of disease, and other insects also creates skin infections.As a result of this disease, large numbers of itchy red bumps come and disappear for a period of a month, si  Read More

The most common symptoms of physical urticaria are itching (pruritus) and hives consisting of red rings around white ridges (wheals). Sensitivity to cold is usually manifested by these eruptions on the skin, itching, and swelling under the skin (angioedema). These symptoms develop most typically after exposure to cold is terminated and during or after swimming or bathing. Contraction of the muscles around the bronchi (bronchospasm) and even hi  Read More

Since vaginitis can be caused by a variety of species and situations, treatment focuses on the specific cause:Vaginosis is caused by bacteriaFor this type of vaginitis, your doctor may prescribe metronidazole tablets (Flagyl) to take or metronidazole gel (MetroGel) to apply to the affected area. Other treatments include clindamycin (Cleocin) cream applied to the vagina, clindamycin tablets taken orally, or c  Read More

Because this condition affects your blood vessels, symptoms might occur in various parts of your body. There’s no single set of symptoms that can definitely indicate you have necrotizing vasculitis. You might notice initial symptoms on your own without a medical test. These include: chills fatigue fever weight loss Other early symptoms are only detectable through a bloo  Read More

Vitiligo has no known cure. The purpose of medical therapy is to achieve a consistent skin tone by restoring colour (repigmentation) or removing the remaining colour (depigmentation).SurgerySkin grafts obtained from the patient: Skin is taken from one portion of the patient and utilised to cover another. Scarring, infection, and inability to repigment are all possible problems. it can also be called mic  Read More

Vulgaris type Ichthyosis is an inherited skin condition where the surface of your skin develops thick, dry scales from the accumulation of dead skin cells.Vulgaris type Ichthyosis, also known as fish scale disease or fish skin disease, can cause scales to develop from birth, but this is typically when they first do.Since they are easily mistaken for cases of severely dry skin, modest occurrences of Vulgari  Read More

Weber-Christian disease facts Weber-Christian disease is an uncommon inflammatory condition of the fatty tissues of the body. It's a disease of unknown cause. It most commonly affects the thighs and legs of women. It's difficult to treat and may heal with permanent scars. What is Weber-Christian disease?  Weber-Christian disease is an uncommon inflammatory disease of the  Read More

Short stature, an unusually small head (microcephaly), and brain abnormalities that may cause intellectual incapacity are the hallmarks of the rare genetic illness weber-cockayne disease or cockayne Syndrome (CS).Children who have the condition may also experience photosensitivity, peripheral nerve inflammation, breakdown of the myelin sheath that protects nerve fibers, hearing loss, vision problems like cataracts,  Read More

Weil syndrome, a rare infectious disorder, is a severe form of the bacterial infection caused by Leptospira bacteria known as leptospirosis. Weil syndrome is characterized by dysfunction of the kidneys and liver, abnormal enlargement of the liver (hepatomegaly), persistent yellowing of the skin, mucous membranes, and whites of the eyes (jaundice), and/or alterations in consciousness. In most cases, Weil syndrome occurs among individuals who ar  Read More

Wells' syndrome, also named eosinophilic cellulitis, is a skin disease that is very rare. There occur rashes on the skin that are so painful that the touch may feel burning, raised, red, or swollen on the skin.The person affected by this skin condition may be because of bites from spiders, fleas, bees, mites, or ticks, i.e., arthropods.But the actual and exact cause is not yet known.The sympto  Read More

Wiskott Aldrich syndrome is a syndrome that contains various conditions resulting from a mutation in WAS gene. Mutation in WAS gene results in a deficiency in WASP protein then platelet count starts decreasing. That is called thrombocytopenia. This disease is of immunological deficiency and reduced ability to form blood clots.In this disease, the problems like bloody diarrhea, recurrent infections, scaling, itchy s  Read More