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Skin conditions resulting from errors in metabolism are caused by enzymatic defects that lead to an accumulation or deficiency of various cellular components, including, but not limited to, amino acids, carbohydrates, and lipids. [16] Acute intermittent porphyria; Adrenoleukodystrophy (Schilder's disease) Alkaptonuria
Signs and symptoms of this progressive disease tend to become more marked as the child ages. Later, the condition causes wrinkled skin, kidney failure, loss of eyesight, and atherosclerosis and other cardiovascular problems. [12] Scleroderma, a hardening and tightening of the skin on trunk and extremities of the body, is prevalent.
[4] [5] The condition is the most severe form of ichthyosis (except for syndromes that include ichthyosis, for example, Neu–Laxova syndrome), a group of genetic disorders characterised by scaly skin. [8] Harlequin-type ichthyosis is caused by mutations in the ABCA12 gene. [4]
Wrinkly skin syndrome (WSS) is a rare genetic condition characterized by sagging, wrinkled skin, low skin elasticity, and delayed fontanelle (soft spot) closure, along with a range of other symptoms. [1] The disorder exhibits an autosomal recessive inheritance pattern with mutations in the ATP6V0A2 gene, leading to abnormal glycosylation events ...
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]
“Toasted skin syndrome is the non-medical term for a skin condition that is caused by chronic exposure to low levels of heat or specific types of radiation," explains Dr. Rachel Nazarian, MD ...
Schamberg's disease is a skin disorder that causes a discoloration of the lower extremities. [4] It usually occurs in the lower extremities and rarely elsewhere. [4] This condition is caused by leaky blood vessels near the surface of the skin. [7] The cause of the leaky capillaries is usually not known. [7]
The skin weighs an average of 4 kg (8.8 lb), covers an area of about 2 m 2 (22 sq ft), 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 nonhairy skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin. [16]