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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]
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
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
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]
List of conditions associated with café au lait macules; List of contact allergens; List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer; List of cutaneous conditions associated with internal malignancy; List of cutaneous conditions caused by mutations in keratins
A single-gene disorder (or monogenic disorder) is the result of a single mutated gene. Single-gene disorders can be passed on to subsequent generations in several ways. Genomic imprinting and uniparental disomy, however, may affect inheritance patterns.
Cutaneous conditions caused by mutations in structural proteins within the epidermis, excluding keratin proteins Defective protein Conditions(s) Loricrin: Vohwinkel syndrome [nb 1] Progressive symmetric erythrokeratodermia: Filaggrin: Ichthyosis vulgaris Atopic dermatitis
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