Atrichia with Papular Lesions in a Taiwanese Patient Without Hairless (HR) Gene Mutation
March 2010
in “
Dermatologica Sinica
”
TLDR A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
In 2010, researchers documented a case of atrichia with papular lesions (APL) in a 19-year-old Taiwanese male and his family, who displayed typical symptoms of APL such as hair loss from a young age and the development of scalp papules, but without any detectable mutations in the hairless (HR) gene. This was notable because APL is usually associated with mutations in the HR gene, which is crucial for hair follicle cycling. The absence of mutations in the sequenced regions of the HR gene led the researchers to propose that the causative mutation might be in non-sequenced regions of the HR gene or in another gene that interacts with the HR protein. They recognized the need for further research to explore these possibilities.
