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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]
Ichthyosis vulgaris (also known as "autosomal dominant ichthyosis" [1] and "Ichthyosis simplex" [1]) is a skin disorder causing dry, scaly skin. It is the most common form, and one of the mildest forms, of ichthyosis, [2] [3]: 486 affecting around 1 in 250 people. [4] For this reason it is known as common ichthyosis.
A child with Harlequin-type ichthyosis. 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] Sufferers feature severe cranial and facial deformities.
X-linked ichthyosis (abbreviated XLI) is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. [2] XLI manifests with dry, scaly skin [ 3 ] and is due to deletions [ 4 ] [ 5 ] or mutations [ 6 ] in the STS gene.
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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is an extremely rare genetic syndrome caused by mutations in the MBTPS2 gene. [ 2 ] : 564 It is extremely rare: there were only 40 known cases (all male) until 2011.
Ichthyosis hystrix is a group of rare skin disorders in the ichthyosis family of skin disorders characterized by massive hyperkeratosis with an appearance like spiny scales. [1] This term is also used to refer to a type of epidermal nevi with extensive bilateral distribution.
Sjögren–Larsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms. [1]: 485 [2]: 564 [3] It can be identified by a triad of medical disorders. The first is ichthyosis, which is a buildup of skin to form a scale-like covering that causes dry skin and other problems.