Literature DB >> 28329493

Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP): A Case Report.

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.

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Year:  2017        PMID: 28329493

Source DB:  PubMed          Journal:  Dermatol Online J        ISSN: 1087-2108


  1 in total

1.  Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome: A Case Report and Review of Cases Reported from India.

Authors:  Anupama Bains; Deepak Vedant; Anurag Verma; Abhishek Bhardwaj; Aasma Nalwa
Journal:  Indian Dermatol Online J       Date:  2019-11-01
  1 in total

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