Phenotypic Expansion of Autosomal Dominant SREBF1-Related Ichthyosis Follicularis, Atrichia, Photophobia: It Is in Fact the Same Condition as Hereditary Mucoepithelial Dysplasia.

Abstract excerpt

Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant disorder characterized by non-scarring alopecia, skin and mucosal lesions, and keratitis. Autosomal dominant SREBF1-related Ichthyosis Follicularis, Atrichia, Photophobia (IFAP) syndrome is another rare, similar disorder. Both are now known to be caused by the same NM_004176.5(SREBF1):c.1579C>T variant, but were previously described as...

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• Adolescent
• Alopecia
• Child
• Genes, Dominant
• Ichthyosis