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Darier's disease (DD) is a rare, genetic skin disorder. It is an autosomal dominant disorder, that is, if one parent has DD, there is a 50% chance than a child will inherit DD. It was first reported by French dermatologist Ferdinand-Jean Darier in 1889.
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 ...
Ichthyosis (also named fish scale disease) [1] is a family of genetic skin disorders characterized by dry, thickened, scaly skin. [2] The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). [3]
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.
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]
Kindler syndrome is an autosomal recessive genodermatosis.The KIND1 gene mutated in Kindler syndrome codes for the protein kindlin-1, which is thought to be active in the interactions between actin and the extracellular matrix (focal adhesion plaques). [6]
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 ]