Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
September 2020
TLDR The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
The document reports on a case of Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP), a rare X-linked autosomal recessive disease characterized by a triad of symptoms: alopecia universalis, severe photophobia, and follicular ichthyosis. The condition is caused by a loss of function in the MBTPS2 gene. The severity of IFAP syndrome can vary, and there are only a few cases documented in the literature. The case presented in the document features a patient with the characteristic clinical features of IFAP syndrome.
