Woolly Hair, Autosomal Recessive

Last update 08 May 2025

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Synonyms

Woolly Hair, Autosomal Recessive, 毛发，常染色体隐性遗传, 羊毛状发

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100 Clinical Results associated with Woolly Hair, Autosomal Recessive

100 Translational Medicine associated with Woolly Hair, Autosomal Recessive

0 Patents (Medical) associated with Woolly Hair, Autosomal Recessive

Literatures (Medical) associated with Woolly Hair, Autosomal Recessive

01 Jan 2025·The Keio Journal of Medicine

Molecular Basis of Hereditary Hair Diseases

Review

Author: Shimomura, Yutaka

The hair follicle is an appendage of the skin that undergoes hair cycles throughout life. Recently, numerous genes expressed in the hair follicles have been identified, and variants in some of these genes are now known to underlie hereditary hair diseases in humans. Hereditary hair diseases are classified into non-syndromic and syndromic forms. In the Japanese population, the non-syndromic form of autosomal recessive woolly hair, which is caused by founder pathogenic variants in the lipase H (LIPH) gene, is the most prevalent hereditary hair disease. In addition, other types of hereditary hair diseases are known in Japan, such as Marie-Unna hereditary hypotrichosis, hypohidrotic ectodermal dysplasia, and tricho-rhino-phalangeal syndrome. To ensure correct diagnoses and appropriate patient care, dermatologists must understand the characteristics of each hair disorder. Elucidation of the molecular basis of hereditary hair diseases can directly tell us which genes are crucial for morphogenesis and development of hair follicles in humans. Therefore, continuation of "wet laboratory" research for these diseases remains important. To date, several syndromic forms of hereditary hair diseases have been approved as designated intractable diseases in Japan. As part of our efforts in the Project for Research on Intractable Diseases through the Ministry of Health, Labour, and Welfare of Japan, we anticipate that more hereditary hair diseases be recognized as designated intractable diseases in the future, which will be to the benefit of the affected individuals.

31 Dec 2024·Journal of Dermatological Treatment

Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report

Article

Author: Zhong, Shiyi ; Yang, Dingquan ; Zhuang, Mingyue ; Liu, Qingwu ; Huang, Chuhan ; Tian, Ziyuan

PURPOSEWe aim to explore a potential treatment strategy for hair loss.MATERIALS AND METHODSA male 6-year-old child was diagnosed with hidrotic ectodermal dysplasia 2 (HED2) caused by GJB6 (p.G11R) mutations. He presented at our clinic with diffuse thinning and fine and brittle hair since birth. Additionally, the child exhibited abnormal development of teeth, fingernails, and toenails. The condition of the child's hair had not improved significantly with age. He was treated with botanical extracts combined with Minoxidil.RESULTSAfter one and a half months of treatment, the patient showed remarkable hair growth.CONCLUSIONSOur team has previously used botanical extracts in combination for the treatment of autosomal recessive wooly hair in children. In the present case, treatment with botanical extract combined with minoxidil was found to be equally efficacious. This case report provides valuable information for future studies on the use of botanical extracts in treating hair loss, as well as a safe and effective potential treatment strategy for children with congenital alopecia.

01 Aug 2023·The Journal of Dermatology

Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case

Letter

Author: Okuyama, Ryuhei ; Katsuie, Shiho ; Yamaguchi, Natsuki ; Kiniwa, Yukiko ; Hayashi, Ryota ; Abe, Riichiro

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Woolly Hair, Autosomal Recessive

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