Atrichia With Papular Lesions Resulting From a Novel Homozygous Missense Mutation in the Hairless Gene

August 2003 in “ Clinical and Experimental Dermatology ”

M. Paradisi, Gary S. Chuang, C. Angelo, Cristina Pedicelli, Amalia Martı́nez-Mir, Angela M. Christiano

atrichia with papular lesions hairless gene missense mutation keratin-filled follicular cysts LXXLL motif zinc-finger motif

Studysummary In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.

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Atrichia with papular lesions (APL) was identified as a rare autosomal recessive disorder characterized by complete and irreversible hair loss shortly after birth, along with the development of papular lesions of keratin-filled follicular cysts. This study reported a novel missense mutation, E583V, in the hairless gene in an Italian family affected by APL. The mutation was located between the LXXLL motif in exon 5 and the zinc-finger motif in exon 6, regions that were highly conserved across several species. This finding contributed to the understanding of the critical role of these domains in the function of the hairless protein and highlighted the occurrence of APL in small, non-consanguineous families globally.

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