Although researchers have been able to establish a clear syndrome with characteristic or “core” symptoms, much about de Barsy syndrome is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is import  Read More

Although researchers have been able to establish a clear syndrome with characteristic or “core” symptoms, much about de Barsy syndrome is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is import  Read More

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin infants need to be cared for in the neonatal intensive care unit immediately. Harlequin ichthyosis is inherited as an autosomal recessive trait.  Read More

Irritation felt due to breathing or exposure to a chemical called formaldehyde results in Formaldehyde Poisoning.Burning sensation and redness in the eye, stomach, food pipe, skin, and other body parts are the impacts of Formaldehyde Poisoning.Incidence:It can happen to both genders with no age bar set. Anyone with ample exposure to this chemical can get affected. People working at chemical plants  Read More

Damaged tissue from gangrene cannot be saved. However, medication is available to help avoid gangrene from worsening. The sooner you receive therapy, the greater your chances of recovery.Gangrene treatment may comprise one or more of the following: Medication: Antibiotics are administered intravenously or orally to treat bacterial infections. To alleviate discomfort, pain medicines may be admini  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

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin infants need to be cared for in the neonatal intensive care unit immediately. Harlequin ichthyosis is inherited as an autosomal recessive trait.  Read More

Harley syndrome or Harlequin syndrome is a rare dysautonomic syndrome caused by the unilateral blockade of the T2-T3 fibers carrying sudomotor and vasomotor supply to the face.The autonomic nervous system is responsible for regulating the natural processes of the body, including sweating, skin flushing, and the response of the pupils to any stimuli. The exact cause of the condition is not found yet.The sym  Read More

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin infants need to be cared for in the neonatal intensive care unit immediately. Harlequin ichthyosis is inherited as an autosomal recessive trait.  Read More

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin infants need to be cared for in the neonatal intensive care unit immediately. Harlequin ichthyosis is inherited as an autosomal recessive trait.  Read More

Impetigo is a commonly transmitted skin infection. Bacteria such as Staphylococcus aureus and Streptococcus pyogenes infect the epidermis, or outer layers of the skin. The face, arms, and legs are the most commonly affected areas.Impetigo can affect anyone, although it is more frequent in children, particularly those aged 2 to 5.Minor cuts, bug bites, or a rash like eczema — any spot where the skin is damaged  Read More

Apnea is a term used to describe the temporary absence of spontaneous breathing. Infantile apnea occurs in children under the age of one year. Apnea may occur because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms of infantile apnea include the stoppage of breathing during sleep, an abnormal bluish discoloration to the skin (cyanosis) and sometimes an unusually slow heartb  Read More

Latex allergy is an allergic reaction to specific proteins found in natural rubber latex, which is derived from the rubber tree. When People have a latex allergy, their body misidentifies latex as a potentially hazardous substance.Latex allergy can cause itchy skin, hives, and even anaphylaxis, a potentially fatal illness characterised by throat swelling and significant trouble breathing.The specialist can  Read More

A chronic inflammatory disorder that affects the skin and mucosal membranes is Lichen Annularis.Inflammation (swelling and irritation) on the skin or within the mouth is a common symptom of lichen planus.Your skin develops an itchy rash as a result of Lichen Annularis.Your mouth may become painful or burn.An unidentified protein in the skin and mucosal keratinocytes is the target of infla  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

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

The symptoms, progression and severity of Parry-Romberg syndrome are highly variable from one person to another and range from mild to severe. It is important to note that affected individuals will not have all the symptoms discussed below. It seems likely that individuals with milder symptoms are much more common than severely affected individuals. Affected individuals should talk to their physician and medical team about their specific case  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

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 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

An uncommon congenital skin condition known as Van Lohuizen Syndrome, is marked by discoloured patches of skin (livedo reticularis) brought on by dilated surface blood vessels (telangiectases), which give the skin a ""fishnet"" or blue or purple appearance. This condition is commonly accompanied by skin sores (Ulcers) that resemble craters. At least 50% of those with the condition also have other congenital  Read More