Ichthyosis-hypotrichosis syndrome

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Name:
Ichthyosis-hypotrichosis syndrome
Description:
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.
ORPHAcode:
91132
Synonyms:
Hypotrichosis-congenital ichthyosis syndrome
IFAH syndrome
IHS
Ichthyosis-follicular atrophoderma-hypotrichosis syndrome
Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14