Isolated Autosomal Recessive Woolly Hair/Hypotrichosis: Genetics, Pathogenesis, and Therapies

May 2021 in “ JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology ”

Masashi Akiyama

autosomal recessive woolly hair hypotrichosis LPAR6 LIPH KRT25 C3ORF52 LIPH-LPA-LPAR6 signaling topical minoxidil minoxidil Rogaine

Studysummary This study suggests that topical minoxidil may be a promising treatment for isolated autosomal recessive woolly hair due to LIPH mutations, although effective treatments are not yet established.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

Isolated autosomal recessive woolly hair/hypotrichosis (ARWH) is a rare genetic condition characterized by tightly curled, sparse hair from birth or early infancy. It is caused by mutations in genes such as LPAR6, LIPH, KRT25, and C3ORF52, with the prevalence of these mutations varying by ethnicity and region. For instance, LIPH mutations are common in Japanese, Pakistani, and certain Russian populations. The condition results from disrupted LIPH-LPA-LPAR6 signaling, leading to underdeveloped hair. While no definitive treatment exists, a recent study suggests that topical minoxidil may be promising for ARWH due to LIPH mutations.

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