Article
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
Orphanet journal of rare diseases - 21 May 2011
Mégarbané Hala, Mégarbané André
Abstract excerpt
The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis Follicularis, Alopecia, and Photophobia from birth. Other features such as short stature, intellectual disability, and seizures may develop in the first few years of life. Skin histopathology is non-specific and consists of dilated hair follicles with keratin plugs extending above...
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