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[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]
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]
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.
Mutations in the ABCA12 gene also cause another severe skin disorder, lamellar ichthyosis type 2. [ 8 ] [ 9 ] People with this disorder have red, scaly, plate-like skin covering most of their bodies. The ABCA12 mutations that cause this disorder substitute one amino acid (a building block of proteins) for another amino acid in the ABCA12 protein.
Mutations in this gene account for 16% of autosomal recessive congenital ichthyosis (ARCI) cases, making it the 2nd most common gene involved with this disease. [9] Since its first identification in 2004, 18 disease‐causing mutations have been reported in NIPAL4 .
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.
Netherton syndrome is a severe, autosomal recessive [1] form of ichthyosis associated with mutations in the SPINK5 gene. [2] [3] It is named after Earl W. Netherton (1910–1985), an American dermatologist who discovered it in 1958. [4]
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 ]