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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]
Harlequin-type ichthyosis is a genetic disorder that results in thickened skin over nearly the entire body at birth. [4] The skin forms large, ...
Ichthyosis vulgaris is a common genetic disorder caused by a single gene. [7] This disorder is thought to happen because of changes in the gene responsible for making a protein called profilaggrin, which later turns into filaggrin. Filaggrin plays a crucial role in how our skin is built. [15]
Harper Ly Foy was born with harlequin ichthyosis, a rare genetic skin disorder in which the skin is covered in thick plates that crack and split, according to the National Organization of Rare ...
A corn or clavus (plural clavi or clavuses) is an often painful, cone-shaped, inwardly directed callus of dead skin that forms at a pressure point near a bone, or on a weight-bearing part of the body. When on the feet, corns can be so painful as to interfere with walking.
Both the familial type and Fish-eye disease are autosomal recessive disorders caused by mutations of the LCAT gene located on chromosome 16q22.1, which is the long (q) arm of chromosome 16 a position 22.1. [7] Both diseases are very rare with ~70 reported cases of familial LCAT deficiency [9] and ~30 cases of fish-eye disease. [10]
In around 10% of cases the baby sheds this layer of skin and has normal skin for the rest of its life. [2] [5] This is known as self-healing collodion baby. The remaining 15% of cases are caused by a variety of diseases involving keratinization disorders. [5] Known causes of collodion baby include ichthyosis vulgaris and trichothiodystrophy. [3]
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]