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Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. [1] [2] "Butterfly child" is the colloquial name for children born with the disease, as their skin is seen to be as delicate and fragile as the wings of a butterfly. [3]
Schamberg's disease, (also known as "progressive pigmentary dermatosis of Schamberg", [1] "purpura pigmentosa progressiva" (PPP), [1] and "Schamberg's purpura" [1]) is a chronic discoloration of the skin found in people of all ages, usually only affecting the feet, legs or thighs or a combination. It may occur as a single event or subsequent ...
Epidermodysplasia verruciformis (EV) is a skin condition characterised by warty skin lesions. [1] It results from an abnormal susceptibility to HPV infection (HPV). It is associated with a high lifetime risk of squamous cell carcinomas in skin. [1]
Diagnosis is based on symptoms, supported by a skin biopsy or blood tests. [6] While no cure is known, treatment may improve symptoms. [2] Medications used include corticosteroids, methotrexate, and non-steroidal anti-inflammatory drugs (NSAIDs). [2] Outcome depends on the extent of disease. [3]
Genodermatosis is a hereditary skin disease with three inherited modes including single gene inheritance, multiple gene inheritance and chromosome inheritance. [1] There are many different types of genodermatosis; the prevalence of genodermatosis ranges from 1 per 6000 people to 1 per 500,000 people. [2]
The basal cells show more pigmentation (blue arrows). [6] The disease is most often diagnosed as an infant, when parents take their baby in for what appears to be bug bites. The bug bites are actually the clumps of mast cells. Doctors can confirm the presence of mast cells by rubbing the baby's skin.
Visible plates on the skin and changes in the appearance of the ears and fingers, are symptoms of Harlequin-type ichthyosis. [ 10 ] Newborns with harlequin-type ichthyosis present with thick, fissured armor-plate hyperkeratosis . [ 11 ]
It is a multisystem disorder characterized primarily by skin manifestations to the atrophic and hypoplastic areas of skin which are present at birth. These defects manifest as yellow-pink bumps on the skin and pigmentation changes. [2] The disorder is also associated with shortness of stature and some evidence suggests that it can cause ...