Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions

July 2003 in “ Journal of Investigative Dermatology ”

Amy S. Paller, George Varigos, Arye Metzker, Robert C. Bauer, Jacinta Opie, Amalia Martı́nez-Mir, Angela M. Christiano, Abraham Zlotogorski

hairless gene atrichia with papular lesions alopecia universalis compound heterozygous mutations nonsense mutation missense mutation genetic testing HR gene APL AU

TLDR Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.

The study identified compound heterozygous mutations in the hairless (HR) gene in three individuals from nonconsanguineous families, leading to atrichia with papular lesions (APL), a condition often misdiagnosed as alopecia universalis (AU). The research highlighted the importance of distinguishing between APL and AU, as APL did not respond to treatments effective for AU. The study found recurrent mutations, such as the nonsense mutation Q478X and the missense mutation C622G, suggesting these might have been mutational hotspots. The findings suggested that APL might have been more common than previously thought, especially in nonconsanguineous families, and recommended genetic testing for HR mutations in infants with presumed AU before starting ineffective treatments.