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This case report presents a 28-year-old woman with alopecia universalis and macular dystrophy, highlighting a potential new linkage between these conditions without previously identified associated genes.

This report discusses the accurate diagnosis of atrichia with papular lesions, emphasizing its distinction from alopecia universalis to prevent unnecessary steroid treatment, and presents a case matching APL diagnostic criteria.

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.

This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.

This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.