Ichthyosis with hypotrichosis

Definition:

Ichthyosis with hypotrichosis is a syndromic form of autosomal recessive congenital ichthyoses associated with abnormal hair. Sparse scalp hair, wrinkled skin, and corneal abnormalities are observed in patients with the disease. It is linked to ST14 encoding the matriptase serine protease.

References:

[1]. Karin List, et al. Autosomal ichthyosis with hypotrichosis syndrome displays low matriptase proteolytic activity and is phenocopied in ST14 hypomorphic mice. J Biol Chem. 2007 Dec 14;282(50):36714-23. [Content Brief]

[2]. L Avrahami, et al. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype. Clin Genet. 2008 Jul;74(1):47-53. [Content Brief]

[3]. Lina Basel-Vanagaite, et al. Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. Am J Hum Genet. 2007 Mar;80(3):467-77. [Content Brief]

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