Premium
Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
Author(s) -
Avrahami L,
Maas S,
PasmanikChor M,
Rainshtein L,
Magal N,
Smitt JHS,
Van Marle J,
Shohat M,
BaselVanagaite L
Publication year - 2008
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2008.01006.x
Subject(s) - hypotrichosis , ichthyosis , congenital ichthyosis , dermatology , genetics , photophobia , consanguinity , phenotype , chondrodysplasia punctata , medicine , biology , gene , ophthalmology
Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase. No other families have so far been described since the original report. In this current report we describe a female patient from a second family with ARIH syndrome who carries a homozygous novel mutation, p.M1I. The patient has congenital ichthyosis, light brown, curly, sparse hair, improving with age, and sparse body hair, eyebrows and eyelashes. She does not suffer from photophobia, but has blepharitis. The phenotype of this patient closely resembles that of the affected individuals in the previously reported family, although she does not have tooth abnormalities and the ichthyosis is milder.