Ichthyosis-hypotrichosis syndrome Q80.8

Lestringant et al. 1998

Prevalence: <1 / 1 000 000

In an Arab family, the cause was a missense mutation in the ST14 gene (chromosome region 11q24-q25), which codes for the transmembrane serine protease matriptase-1 (see matriptases below). Another "p.Asp482Asn" mutation in the ST14 gene has recently been detected in ichthyosis-hypotrichosis syndrome (Youssefian L et al. 2017).

Matriptase-1 plays a major role in the proteolytic exfoliation process of the stratum corneum. The consequence of a loss of function of this protease is a retention hyperkeratosis of the epidermis.

Clinically this autosomal recessive genodermatosis shows besides a moderate or mild lamellar ichthyosis with hypohidrosis a clinically conspicuous hypotrichosis, also with missing eyebrows and eyelashes.

1. Alef T et al (2009) Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. J Invest Dermatol 129:862-869.
2. Lestringant GG et al (1998) Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis? At J Med Genet 75:186-189.
3. Youssefian L et al (2017) A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome. Orphanet J Rare Dis 12:176.