Diagnosis and Treatment of Isolated autosomal recessive woolly hair/ hypotrichosis

Ying Xie¹Sha Luo²Yumei Yang¹Xin Zou³Shuying Lv⁴Meijiao Du¹Yonglong Xu¹Xiaojuan Song⁵Changjie Qi⁵Nuo Li^6*Ding Quan Yang^6*

• ¹Beijing University of Chinese Medicine, Beijing, China
• ²The First Hospital of Hunan University of Chinese Medicine, Changsha, Hunan, China
• ³Dalian University of Foreign Languages, Dalian, Liaoning Province, China
• ⁴Capital Medical University, Beijing, Beijing Municipality, China
• ⁵Eighth Medical Center of the General Hospital of the Chinese People's Liberation Army, Beijing, Beijing, China
• ⁶China-Japan Friendship Hospital, Beijing, Beijing Municipality, China

Isolated autosomal recessive woolly hair/hypotrichosis (ARWH, OMIM:278150) is a rare congenital disorder marked by sparse, tightly curled "woolly" hair. ARWH is associated with mutations in LIPH, LPAR6/P2RY5, KRT25, and C3ORF52, with LIPH and LPAR6 as the primary causative genes. Mutation prevalence varies globally: in Japan, founder mutations c.736T>A (p.Cys246Ser) and c.742C>A (p.His248Asn) in LIPH are predominant; Pakistan reports a recurrent LIPH exon 5 deletion (c.659_660del); Russia's Volga-Ural region has an exon 4 deletion (c.527_628del); and 12 out of 19 Chinese ARWH cases are linked to LIPH c.742C>A. LPAR6 mutations are sporadic, with rare occurrences in Pakistani families and two Chinese cases.. KRT25 mutations include Russian founder variant c.712G>T (p.Val238Leu) and Pakistani c.950T>C (p.Leu317Pro). C3ORF52 mutations are newly identified, reported only in two U.S. cases. No definitive treatment exists, but minoxidil, gentamicin, regenerative therapies, and plant-derived compounds show potential. Regional mutation patterns highlight genetic founder effects and population-specific variations in ARWH pathogenesis.