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Autosomal Recessive Hypotrichosis with Woolly Hair

MedGen UID:
891550
•Concept ID:
CN237175
•
Disease or Syndrome

Professional guidelines

PubMed

Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.
Tanahashi K, Sugiura K, Kono M, Takama H, Hamajima N, Akiyama M
PLoS One 2014;9(2):e89261. Epub 2014 Feb 19 doi: 10.1371/journal.pone.0089261. PMID: 24586639Free PMC Article

Recent clinical studies

Etiology

Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies.
Akiyama M
J Eur Acad Dermatol Venereol 2021 Sep;35(9):1788-1796. Epub 2021 Jun 4 doi: 10.1111/jdv.17350. PMID: 33988877
Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants.
Taki T, Tanahashi K, Takeichi T, Yoshikawa T, Murase Y, Sugiura K, Akiyama M
JAMA Dermatol 2020 Oct 1;156(10):1030-1032. doi: 10.1001/jamadermatol.2020.2195. PMID: 32667621Free PMC Article
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
Schlaweck AE, Tazi-Ahnini R, Ü Basmanav FB, Mohungoo J, Pasternack-Ziach SM, Mattheisen M, Oprisoreanu AM, Humbatova A, Wolf S, Messenger A, Betz RC
PLoS One 2019;14(12):e0225943. Epub 2019 Dec 2 doi: 10.1371/journal.pone.0225943. PMID: 31790498Free PMC Article
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.
Zernov NV, Skoblov MY, Marakhonov AV, Shimomura Y, Vasilyeva TA, Konovalov FA, Abrukova AV, Zinchenko RA
J Invest Dermatol 2016 Jun;136(6):1097-1105. Epub 2016 Feb 20 doi: 10.1016/j.jid.2016.01.037. PMID: 26902920
Genetics of human isolated hereditary hair loss disorders.
Basit S, Khan S, Ahmad W
Clin Genet 2015 Sep;88(3):203-12. Epub 2014 Nov 22 doi: 10.1111/cge.12531. PMID: 25350920

Diagnosis

Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.
Lv H, Li M, Cheng R
J Dermatol 2020 Dec;47(12):1445-1449. Epub 2020 Sep 9 doi: 10.1111/1346-8138.15581. PMID: 32901930
Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants.
Taki T, Tanahashi K, Takeichi T, Yoshikawa T, Murase Y, Sugiura K, Akiyama M
JAMA Dermatol 2020 Oct 1;156(10):1030-1032. doi: 10.1001/jamadermatol.2020.2195. PMID: 32667621Free PMC Article
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
Schlaweck AE, Tazi-Ahnini R, Ü Basmanav FB, Mohungoo J, Pasternack-Ziach SM, Mattheisen M, Oprisoreanu AM, Humbatova A, Wolf S, Messenger A, Betz RC
PLoS One 2019;14(12):e0225943. Epub 2019 Dec 2 doi: 10.1371/journal.pone.0225943. PMID: 31790498Free PMC Article
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.
Ahmad F, Sharif S, Furqan Ubaid M, Shah K, Khan MN, Umair M, Azeem Z, Ahmad W
Congenit Anom (Kyoto) 2018 Jan;58(1):24-28. Epub 2017 Jun 12 doi: 10.1111/cga.12226. PMID: 28425126
Genetics of human isolated hereditary hair loss disorders.
Basit S, Khan S, Ahmad W
Clin Genet 2015 Sep;88(3):203-12. Epub 2014 Nov 22 doi: 10.1111/cge.12531. PMID: 25350920

Therapy

Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report.
Zhong S, Huang C, Zhuang M, Liu Q, Tian Z, Yang D
J Dermatolog Treat 2024 Dec;35(1):2378163. Epub 2024 Jul 11 doi: 10.1080/09546634.2024.2378163. PMID: 38991555
Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants.
Taki T, Tanahashi K, Takeichi T, Yoshikawa T, Murase Y, Sugiura K, Akiyama M
JAMA Dermatol 2020 Oct 1;156(10):1030-1032. doi: 10.1001/jamadermatol.2020.2195. PMID: 32667621Free PMC Article
Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation.
Kinoshita-Ise M, Kubo A, Sasaki T, Umegaki-Arao N, Amagai M, Ohyama M
Br J Dermatol 2017 Jan;176(1):138-144. Epub 2016 Dec 19 doi: 10.1111/bjd.14836. PMID: 27375176
Clinical effects of non-ablative and ablative fractional lasers on various hair disorders: a case series of 17 patients.
Cho S, Choi MJ, Zheng Z, Goo B, Kim DY, Cho SB
J Cosmet Laser Ther 2013 Apr;15(2):74-9. Epub 2013 Mar 6 doi: 10.3109/14764172.2013.764436. PMID: 23464363

Prognosis

Clinical effects of non-ablative and ablative fractional lasers on various hair disorders: a case series of 17 patients.
Cho S, Choi MJ, Zheng Z, Goo B, Kim DY, Cho SB
J Cosmet Laser Ther 2013 Apr;15(2):74-9. Epub 2013 Mar 6 doi: 10.3109/14764172.2013.764436. PMID: 23464363
Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.
Tanahashi K, Sugiura K, Takeichi T, Takama H, Shinkuma S, Shimizu H, Akiyama M
J Eur Acad Dermatol Venereol 2013 Sep;27(9):1182-4. Epub 2012 Mar 26 doi: 10.1111/j.1468-3083.2012.04526.x. PMID: 22449147

Clinical prediction guides

Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.
Lv H, Li M, Cheng R
J Dermatol 2020 Dec;47(12):1445-1449. Epub 2020 Sep 9 doi: 10.1111/1346-8138.15581. PMID: 32901930
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
Schlaweck AE, Tazi-Ahnini R, Ü Basmanav FB, Mohungoo J, Pasternack-Ziach SM, Mattheisen M, Oprisoreanu AM, Humbatova A, Wolf S, Messenger A, Betz RC
PLoS One 2019;14(12):e0225943. Epub 2019 Dec 2 doi: 10.1371/journal.pone.0225943. PMID: 31790498Free PMC Article
Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families.
Khan GM, Hassan N, Khan N, Humayun M, Khan K, Khaliq S, Rehman FU, Ahmed S, Shah K, Khan SA, Muhammad N, Wali A, Khan S, Basit S, Ayub M
Int J Dermatol 2019 Aug;58(8):946-952. Epub 2019 May 11 doi: 10.1111/ijd.14480. PMID: 31077348
Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation.
Kinoshita-Ise M, Kubo A, Sasaki T, Umegaki-Arao N, Amagai M, Ohyama M
Br J Dermatol 2017 Jan;176(1):138-144. Epub 2016 Dec 19 doi: 10.1111/bjd.14836. PMID: 27375176
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).
Azeem Z, Jelani M, Naz G, Tariq M, Wasif N, Kamran-Ul-Hassan Naqvi S, Ayub M, Yasinzai M, Amin-Ud-Din M, Wali A, Ali G, Chishti MS, Ahmad W
Hum Genet 2008 Jun;123(5):515-9. Epub 2008 May 7 doi: 10.1007/s00439-008-0507-7. PMID: 18461368

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