The following Conditions are related to Abnormal

Select a specific condition below to view its details.

  • Acanthotic nevus

    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

  • Black tongue

    Hairy tongue is an uncommon, benign condition that is also known as black hairy tongue or lingua nigra. It is characterized by abnormal elongation and blackish or dark brownish discoloration or "staining" of the thread-like elevations (filiform papillae) that cover most of the tongue's surface (dorsum linguae). Such changes often begin at the back (posterior) region of the top of the tongue and extend toward the front (anterior) of the tongue'  Read More

  • Blue rubber bleb nevus

    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

  • Branchiooculofacial syndrome

    Infants with BOFS may have a low birth weight and may continue to experience abnormally slow growth after birth (postnatal growth retardation). “B” refers to “branchial” skin defects, although a more accurate term is pharyngeal. The skin defects are not true hemangiomas, but unfortunately, the description as hemangiomatous has persisted. They are usually dark pink or red, may be moist, weep, or have atrophic ski  Read More

  • Chanarin dorfman disease

    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

  • De barsy syndrome

    De barsy syndrome is a rare genetic disorder that affects the skin, eyes, skeletomuscular and nervous system.It is so rare that only 27 cases have been reported worldwide. It is a genetic disorder, and the conditions are very similar to those of cutis laxa syndrome.The disease has multiple other names; De Barsy-Moens-Diercks syndrome, corneal clouding-cutis laxa-mental retardation, and progeroid syndrome o  Read More

  • De barsy-moens-diercks syndrome

    De Barsy Moens-Diercks syndrome is a rare genetic disorder that affects the body's connective tissue. It is distinguished by short stature, developmental delays, and lax cutis (saggy skin that lacks elasticity). The syndrome is named after Dr. Georges de Barsy, who described the condition for the first time in 1931. It usually affects men and women equally. The severity and specific symptoms of De Barsy Moens-Diercks syndrome  Read More

  • De santis cacchione syndrome

    De Sanctis-Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with neurological abnormalities, mental retardation, unusually short stature (dwarfism), and underdevelopment of the testes or ovaries (hypogonadism). Xeroderma pigmentosum is a group of rare inherited skin disorders characterized by a heightened reaction to ultraviolet light (photosensit  Read More

  • Deciduous skin

    Deciduous skin is defined as the periodic, continuous, or seasonal peeling or shedding of the epidermal skin layer considering a generalized distribution.Deciduous skin is also referred to as the peeling skin syndrome (PSS), which is a rare autosomal recessive form of ichthyosis.This is clinically characterized by asymptomatic, superficial, and spontaneous peeling of the skin.It is also histologic  Read More

  • Doc 10 (sjogren-larsson type)

    Sjogren-Larsson syndrome is an inherited disorder characterized by scaling skin (ichthyosis), mental retardation, speech abnormalities, and spasticity. Affected infants develop various degrees of reddened skin with fine scales soon after birth. After infancy, the skin loses its redness and dark scales often appear on the neck and under the arms. Additionally, larger plate-like thick scales may develop on the lower legs. Developmental delay, sp  Read More

  • Dyschromatosis universalis hereditaria

    Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. First described in the medical literature in 1906, dyskeratosis congenita was originally thought to be a skin disease that also affects the nails and the mouth. Only later in the sixties was it realized that  Read More

  • Ectodermal dysplasias

    Johanson-Blizzard syndrome (JBS) is an extremely rare genetic disorder that affects multiple organ systems of the body. Many symptoms are present at birth (congenital) or early childhood. The spectrum of potential features and physical findings associated with JBS is wide and varied and can differ dramatically from one person to another. However, characteristic features include insufficient intestinal absorption (malabsorption) of fats and oth  Read More

  • Epidermal nevus syndrome

    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

  • Epidermolysis bullosa acquisita

    Epidermolysis bullosa acquisita is an uncommon autoimmune blistering disorder characterized by tight subepithelial blisters at trauma sites. Epidermolysis bullosa acquisita, unlike Epidermolysis bullosa, is not hereditary and usually manifests in adulthood.Epidermolysis bullosa acquisita blisters are typically found in vulnerable locations like the hands, feet, elbows, knees, and buttocks. Mucosal involvement occas  Read More

  • Epiloia

    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

  • Erythema multiforme bullosum

    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

  • Familial continuous skin peeling

    Skin peeling syndrome or familial continuous skin peeling happens on its own, is painless, and can last a lifetime while gradually getting better. Like skin peeling after a severe sunburn, affected people and/or their caretakers might frequently manually remove sheets of skin.Applying skin-softening (emollient) ointments to treat peeling skin syndrome, particularly after a bath when the skin is moist, may provide s  Read More

  • Focal dermal dysplasia syndrome

    Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare skin disorder that can also affect bone and eye development. If is a type of ectodermal dysplasia, a group of heritable disorders causing the hair, teeth, nails, and glands to develop and function abnormally. Most cases (about 90 percent) are seen in females. This disorder is characterized by skin abnormalities that develop into streaks or lines of tumor-like lumps on vario  Read More

  • Focal dermal hypoplasia

    Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare skin disorder that can also affect bone and eye development. If is a type of ectodermal dysplasia, a group of heritable disorders causing the hair, teeth, nails, and glands to develop and function abnormally. Most cases (about 90 percent) are seen in females. This disorder is characterized by skin abnormalities that develop into streaks or lines of tumor-like lumps on vario  Read More

  • Fraser syndrome

    Fraser syndrome is a rare genetic disorder characterized by partial webbing of the fingers and/or toes (partial syndactyly), kidney (renal) abnormalities, genital malformations, and/or, in some cases, complete fusion of the eyelids (cryptophthalmos) that may be associated with malformation of the eyes, causing blindness. In infants with Fraser syndrome, renal malformations may include improper development (dysplasia), underdevelopment (hypopla  Read More

  • Ganglioside sialidase deficiency

    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

  • Hallermann streiff syndrome (hss)

    Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; sparse hair (hypotrichosis); eye abnormalities; dental defects; degenerative skin changes (atrophy), particularly in the scalp and nasal regions; and proportionate short stature. Characteristic craniofacial features include a short, broad head (brachycephaly) with an unusually  Read More

  • Hallermann-streiff-francois syndrome

    Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; sparse hair (hypotrichosis); eye abnormalities; dental defects; degenerative skin changes (atrophy), particularly in the scalp and nasal regions; and proportionate short stature. Characteristic craniofacial features include a short, broad head (brachycephaly) with an unusually  Read More

  • Harlequin fetus

    A defect caused with birth that affects the skin and results in scaly, dry skin over the body is called Harlequin Fetus or Ichthyosis. It happens due to genetic mutations and wrong combinations in an infant’s body from parents.Difficulties in Children and Adults:Although the disease occurs in infancy, it is necessary to prepare for growing a child with this defect. These are the problems that could occu  Read More

  • Hay-wells syndrome

    The symptoms of AEC syndrome are highly variable, even among members of the same family. In addition, the small number of identified cases, the lack of large clinical studies, and the possibility of other genes or factors influencing the disorder prevent physicians from developing a completely accurate picture of associated symptoms and prognosis. Affected individuals or their parents should talk to their physician and medical team about their  Read More

  • Ichthyosis sjogren larsson syndrome

    Sjogren-Larsson syndrome is an inherited disorder characterized by scaling skin (ichthyosis), mental retardation, speech abnormalities, and spasticity. Affected infants develop various degrees of reddened skin with fine scales soon after birth. After infancy, the skin loses its redness and dark scales often appear on the neck and under the arms. Additionally, larger plate-like thick scales may develop on the lower legs. Developmental delay, sp  Read More

  • Kabuki make-up syndrome

    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

  • Keratolytic winter erythema

    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

  • Keratosis follicularis

    Keratosis follicularis is a genetic condition that emerges at random as a consequence of a sudden genetic alteration or as an autosomal dominant feature.Genetic disorders are caused by the combination of genes for a specific trait on the chromosomes inherited from both parents.Dominant genetic illnesses develop when only one copy of a defective gene is required for the disease to manifest.The faul  Read More

  • Lipoma

    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

  • Malignant melanoma dysplastic nevus type

    Atypical mole syndrome, also called dysplastic nevus syndrome, is a disorder of the skin characterized by the presence of many mole-like tumors (nevi). Most people have 10-20 moles over their bodies. People with this syndrome often have more than 100 moles, at least some of which are unusual (atypical) in size and structure. These moles vary in size, location, and coloring. They are usually larger than normal moles (5mm or more in diameter) an  Read More

  • Nail patella syndrome

    Nail changes are the most constant feature of NPS (98%). In most individuals with NPS, improper development (dysplasia) of the nails is apparent at birth or early infancy. While the thumbnails are almost always affected, the other fingernails may be more mildly affected or not at all. Typically the severity of the nail dysplasia decreases from the thumb toward the 5th digit. The nails may be abnormally small and narrow (i.e., one half to one t  Read More

  • Nodular nonsuppurative panniculitis

    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

  • Nonthrombocytopenic idiopathic purpura

    Nonthrombocytopenic idiopathic purpura is a generally self-limited and inflammatory disease of small blood vessels.In mild conditions, no treatment requires just regular monitoring and platelet checking needed, and without treatment, it improves in children, but in some cases, it takes long-term treatment.In that case, some medications are required and some surgeries are also required.Some medicat  Read More

  • Rothmund thomson syndrome

    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

  • Scalp defect congenital

    Individuals born with Aplasia Cutis Congenita lack skin (and therefore hair), in localized areas of the body, usually, but not always, on the scalp (70 percent of cases). In some cases, the trunk, arms, and/or legs may also be involved. Sometimes, the underlying bone may be missing as well as the skin. The affected area(s) are usually replaced with a thin transparent membrane. In some cases, these affected structures and other organs may be se  Read More

  • Systemic elastorrhexis (obsolete)

    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

  • Trichorhinophalangeal syndrome type ii

    The range and severity of symptoms varies among individuals with trichorhinophalangeal syndrome type II. Affected individuals will not have all of the symptoms listed below. The most common symptoms include fine, thin hair; unusual facial features; short stature; abnormalities of the hands and feet; and/or development of multiple bony growths (exostoses) projecting outward from the surfaces of various bones of the body. Additional characterist  Read More

  • Urod deficiency

    UROD deficiency means a Lack of the enzyme uroporphyrinogen decarboxylase (UROD), which is a basic cause of porphyria cutanea tarda (PCT).This is a type of porphyria in which affected individuals are sensitive to sunlight. PCT is caused by a deficiency of UROD enzymes in the liver.There are three types of PCT that can be classified as type-1, type-2, and type-3.To cure these conditions, sunlight a  Read More

  • Wells' syndrome

    The symptoms of AEC syndrome are highly variable, even among members of the same family. In addition, the small number of identified cases, the lack of large clinical studies, and the possibility of other genes or factors influencing the disorder prevent physicians from developing a completely accurate picture of associated symptoms and prognosis. Affected individuals or their parents should talk to their physician and medical team about their  Read More