Atrichia With Papular Lesions Confirmed Via Genetic Testing: A Case Report

December 2022 in “ Curēus ”

Julie Boisen, Jade Lewis, Sophia J. Hendrick

Atrichia with Papular Lesions alopecia keratotic papules milia-like cysts hairless gene HR gene zinc finger domain chromosome 8p12 APL hair loss skin cysts

Studysummary This case report describes a 5-year-old girl with atrichia with papular lesions, whose diagnosis was confirmed through genetic testing identifying mutations in the hairless gene. Our plain-language summary of this paper — not a Tressless recommendation.

The document reports on a case of a 5-year-old girl diagnosed with Atrichia with Papular Lesions (APL), a rare and irreversible form of alopecia that manifests shortly after birth and is characterized by a complete loss of hair, keratotic papules, and milia-like cysts. The diagnosis was confirmed through genetic testing, which identified mutations in the hairless gene (HR) located on the zinc finger domain of chromosome 8p12, known to be associated with APL. This case underscores the importance of genetic testing in confirming the diagnosis of APL.

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research The Hairless Gene Mutated in Congenital Hair Loss Disorders Encodes a Novel Nuclear Receptor Corepressor

178 citations , October 2001 in “Genes & Development”

This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.