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New mutations in the hairless gene may cause hair loss and affect bone development.

This case report describes a 4-year-old boy with congenital alopecia characterized by complete irreversible hair loss and papular lesions associated with keratin-filled cysts.

In this report, a 1-year-old boy with congenital atrichia with papular lesions was found to have a complete absence of scalp and body hair and keratin-filled cysts due to a mutation in the hairless gene.

This case report describes an 8-year-old girl with atrichia congenita characterized by complete hair loss and papular lesions, attributed to an insertion mutation in the hairless gene.

This case study suggests that atrichia with papular lesions associated with common variable immunodeficiency may follow an autosomal-dominant inheritance pattern, differing from previous reports of autosomal recessive inheritance.