Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Mutations: A Case Report

July 2025 in “ Frontiers in Medicine ”

Ying Xie, Sha Luo, Yumei Yang, Xin Zou, Shuying Lv, Meijiao Du, Yonglong Xu, Xiaojuan Song, Cancan Qi, Nuo Li, Dingquan Yang

LIPH gene autosomal recessive woolly hair hypotrichosis frameshift mutation

Studysummary This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.

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

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

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.

research Woolly Hair Nevus: A Rare Case with Late Onset in Adolescence

40 citations , February 1990 in “Journal of The American Academy of Dermatology”

This study presents the first reported case of woolly hair nevus appearing during adolescence, with significant improvement observed 5 years later and structural changes in the hair documented.