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

  • Author(s): Ferrari, Bruno
  • Morita, Lucila
  • Choate, Keith
  • Hu, Rong-Hua
  • et al.
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Public License
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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