Ichthyosis-hypotrichosis syndrome

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Ichthyosis-hypotrichosis syndrome

Synonyms: Hypotrichosis-congenital ichthyosis syndrome | IFAH syndrome | IHS | Ichthyosis-follicular atrophoderma-hypotrichosis syndrome | Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome

Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene encoding the recently identified protease matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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