| Literature DB >> 28329493 |
Bruno Ferrari1, Lucila Morita, Keith Choate, Rong-Hua Hu.
Abstract
IFAP syndrome is a rare autosomal recessive X-linked disease characterized by the triad of alopecia universalis, severe photophobia, and follicular ichthyosis. It is caused by loss of function of the gene MBTPS2. Its severity varies and there are only a few reports in the literature. We present a patient with characteristic clinical features and a mutation not previously reported.Entities:
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Year: 2017 PMID: 28329493
Source DB: PubMed Journal: Dermatol Online J ISSN: 1087-2108