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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.
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 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.
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Most cases are caused by mutations in the EDA gene, which are inherited in an X-linked recessive pattern, called x-linked hypohidrotic ectodermal dysplasia (XLHED). A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes.
X-linked recessive inheritance. X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation (see zygosity).
The study found that 15.3% of participants had mild cognitive impairment, and that women with mild cognitive impairment were more likely to report more severe menopause symptoms.
Ichthyosis vulgaris (autosomal dominant ichthyosis, ichthyosis simplex) Ichthyosis with confetti; Neonatal ichthyosis–sclerosing cholangitis syndrome (ichthyosis–sclerosing cholangitis syndrome, NISCH syndrome) Incontinentia pigmenti achromians (hypomelanosis of Ito) Immune dysfunction–polyendocrinopathy–enteropathy–X-linked syndrome
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