Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 <i>ST14</i> gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation. Disease data Classification Disease Synonyms Hypotrichosis-congenital ichthyosis syndrome IHS Zespół hipotrichozy i rybiej łuski wrodzonej Zespół IFAH Zespół rybiej łuski, atrofodermii mieszkowej i hipotrichozy Zespół rybiej łuski, atrofodermii mieszkowej, hipotrichozy i hipohydrozy IFAH syndrome IHS Ichthyosis-follicular atrophoderma-hypotrichosis syndrome Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ORPHA code 91132 OMIM code 602400 ICD10 code Q80.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl