Ichthyosis Follicularis with Alopecia and Photophobia Syndrome(IFAP): A Case Report and Review of the Literature
DOI:
https://doi.org/10.47363/JDMRS/2020(1)109Keywords:
Ichthyosis Follicularis, Atrichia, Photophobia, X-linked, MBTPS2 gene, IFAP syndromeAbstract
IFAP syndromeis 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.
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Published
2020-07-13
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