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The skin weighs an average of four kilograms, covers an area of two square metres, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. [1] The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin. [3]
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]
Symptoms: Very thick skin which cracks, abnormal facial features [3] [4] Complications: Breathing problems, infection, problems with body temperature, dehydration [4] Usual onset: Present from birth [3] Causes: Genetic (autosomal recessive) [3] Diagnostic method: Based on appearance and genetic testing [5] Differential diagnosis
For years, a man from Bangladesh lived with "tree man" syndrome.. Abul Bajandar's hands and feet grew foot-long "roots" that left him unable to feed himself, move around, work or wear normal clothing.
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.
PAPA syndrome is inherited in an autosomal dominant fashion, which means that if one parent is affected, there is a 100% chance that a child will inherit the disease from a homozygous affected parent and a 50% chance that a child will inherit the disease from an affected heterozygous parent. [citation needed]
Generalized Pustular Psoriasis (GPP) is a rare skin disease, in which pus-filled blisters often cover large areas of the body and typically cause fever, shivers, intense itching and joint pain.
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]
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