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Hypotrichosis

MedGen UID:
6993
•Concept ID:
C0020678
•
Disease or Syndrome; Finding
Synonym: Congenital hypotrichosis
SNOMED CT: Hypotrichosis (53602002)
 
Monarch Initiative: MONDO:0003037
OMIM® Phenotypic series: PS605389

Definition

A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypotrichosis

Professional guidelines

PubMed

Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management.
Vakkilainen S, Taskinen M, Mäkitie O
Scand J Immunol 2020 Oct;92(4):e12913. Epub 2020 Jun 22 doi: 10.1111/sji.12913. PMID: 32506568
Therapeutic potential of bimatoprost for the treatment of eyebrow hypotrichosis.
Chanasumon N, Sriphojanart T, Suchonwanit P
Drug Des Devel Ther 2018;12:365-372. Epub 2018 Feb 22 doi: 10.2147/DDDT.S156467. PMID: 29503529Free PMC Article
Bimatoprost for the treatment of eyelash, eyebrow and scalp alopecia.
Barrón-Hernández YL, Tosti A
Expert Opin Investig Drugs 2017 Apr;26(4):515-522. Epub 2017 Mar 16 doi: 10.1080/13543784.2017.1303480. PMID: 28264599

Recent clinical studies

Etiology

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
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
Alopecia in genetic diseases.
Calvieri S, Rossi A
G Ital Dermatol Venereol 2014 Feb;149(1):1-13. PMID: 24566562
Cutaneous paraneoplasia.
Ramos-E-Silva M, Carvalho JC, Carneiro SC
Clin Dermatol 2011 Sep-Oct;29(5):541-7. doi: 10.1016/j.clindermatol.2010.09.022. PMID: 21855730
Ectodermal dysplasias.
Itin PH, Fistarol SK
Am J Med Genet C Semin Med Genet 2004 Nov 15;131C(1):45-51. doi: 10.1002/ajmg.c.30033. PMID: 15468153

Diagnosis

A review of genotrichoses and hair pathology associated with inherited skin diseases.
Doolan BJ, Rayinda T, Chiu FP, McGrath JA, Onoufriadis A
Br J Dermatol 2023 Jul 17;189(2):154-160. doi: 10.1093/bjd/ljad102. PMID: 36978220
Congenital Hypotrichosis and Congenital Atrichia.
Al-Dawsari NA, Kaliyadan F
Skinmed 2018;16(1):27-32. Epub 2018 Feb 1 PMID: 29551108
Hair loss in women.
Harfmann KL, Bechtel MA
Clin Obstet Gynecol 2015 Mar;58(1):185-99. doi: 10.1097/GRF.0000000000000081. PMID: 25517757
Cutaneous paraneoplasia.
Ramos-E-Silva M, Carvalho JC, Carneiro SC
Clin Dermatol 2011 Sep-Oct;29(5):541-7. doi: 10.1016/j.clindermatol.2010.09.022. PMID: 21855730
Congenital atrichia and hypotrichosis.
Bennàssar A, Ferrando J, Grimalt R
World J Pediatr 2011 May;7(2):111-7. Epub 2011 May 15 doi: 10.1007/s12519-011-0262-z. PMID: 21574026

Therapy

Uses of eye drops in dermatology, literature review.
Sarsik SM, El-Amawy HS
J Dermatolog Treat 2022 Sep;33(6):2758-2770. Epub 2022 Jun 2 doi: 10.1080/09546634.2022.2079598. PMID: 35652324
Off-Label Use of Topical Minoxidil in Alopecia: A Review.
Stoehr JR, Choi JN, Colavincenzo M, Vanderweil S
Am J Clin Dermatol 2019 Apr;20(2):237-250. doi: 10.1007/s40257-018-0409-y. PMID: 30604379
Therapeutic potential of bimatoprost for the treatment of eyebrow hypotrichosis.
Chanasumon N, Sriphojanart T, Suchonwanit P
Drug Des Devel Ther 2018;12:365-372. Epub 2018 Feb 22 doi: 10.2147/DDDT.S156467. PMID: 29503529Free PMC Article
Bimatoprost for the treatment of eyelash, eyebrow and scalp alopecia.
Barrón-Hernández YL, Tosti A
Expert Opin Investig Drugs 2017 Apr;26(4):515-522. Epub 2017 Mar 16 doi: 10.1080/13543784.2017.1303480. PMID: 28264599
Introduction.
Beer KR
J Drugs Dermatol 2014 Jan;13(1 Suppl):s6. PMID: 24385128

Prognosis

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
Liu Y, Banka S, Huang Y, Hardman-Smart J, Pye D, Torrelo A, Beaman GM, Kazanietz MG, Baker MJ, Ferrazzano C, Shi C, Orozco G, Eyre S, van Geel M, Bygum A, Fischer J, Miedzybrodzka Z, Abuzahra F, Rübben A, Cuvertino S, Ellingford JM, Smith MJ, Evans DG, Weppner-Parren LJMT, van Steensel MAM, Chaudhary IH, Mangham DC, Lear JT, Paus R, Frank J, Newman WG, Zhang X
Br J Dermatol 2022 Dec;187(6):948-961. Epub 2022 Sep 12 doi: 10.1111/bjd.21842. PMID: 35986704
Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management.
Vakkilainen S, Taskinen M, Mäkitie O
Scand J Immunol 2020 Oct;92(4):e12913. Epub 2020 Jun 22 doi: 10.1111/sji.12913. PMID: 32506568
Acrokeratosis paraneoplastica (Bazex syndrome) - a systematic review on risk factors, diagnosis, prognosis and management.
Räßler F, Goetze S, Elsner P
J Eur Acad Dermatol Venereol 2017 Jul;31(7):1119-1136. Epub 2017 Apr 19 doi: 10.1111/jdv.14199. PMID: 28273374
Bazex syndrome.
Rodrigues IA Jr, Gresta LT, Cruz RC, Carvalho GG, Moreira MH
An Bras Dermatol 2013 Nov-Dec;88(6 Suppl 1):209-11. doi: 10.1590/abd1806-4841.20132488. PMID: 24346922Free PMC Article
Cutaneous paraneoplasia.
Ramos-E-Silva M, Carvalho JC, Carneiro SC
Clin Dermatol 2011 Sep-Oct;29(5):541-7. doi: 10.1016/j.clindermatol.2010.09.022. PMID: 21855730

Clinical prediction guides

Biomarker Signature in Aqueous Humor Mirrors Lens Epithelial Cell Activation: New Biomolecular Aspects from Cataractogenic Myopia.
De Piano M, Cacciamani A, Balzamino BO, Scarinci F, Cosimi P, Cafiero C, Ripandelli G, Micera A
Biomolecules 2023 Aug 29;13(9) doi: 10.3390/biom13091328. PMID: 37759728Free PMC Article
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
Liu Y, Banka S, Huang Y, Hardman-Smart J, Pye D, Torrelo A, Beaman GM, Kazanietz MG, Baker MJ, Ferrazzano C, Shi C, Orozco G, Eyre S, van Geel M, Bygum A, Fischer J, Miedzybrodzka Z, Abuzahra F, Rübben A, Cuvertino S, Ellingford JM, Smith MJ, Evans DG, Weppner-Parren LJMT, van Steensel MAM, Chaudhary IH, Mangham DC, Lear JT, Paus R, Frank J, Newman WG, Zhang X
Br J Dermatol 2022 Dec;187(6):948-961. Epub 2022 Sep 12 doi: 10.1111/bjd.21842. PMID: 35986704
LEF1 haploinsufficiency causes ectodermal dysplasia.
Lévy J, Capri Y, Rachid M, Dupont C, Vermeesch JR, Devriendt K, Verloes A, Tabet AC, Bailleul-Forestier I
Clin Genet 2020 Apr;97(4):595-600. Epub 2020 Feb 17 doi: 10.1111/cge.13714. PMID: 32022899
Bimatoprost for the treatment of eyelash, eyebrow and scalp alopecia.
Barrón-Hernández YL, Tosti A
Expert Opin Investig Drugs 2017 Apr;26(4):515-522. Epub 2017 Mar 16 doi: 10.1080/13543784.2017.1303480. PMID: 28264599
Cutaneous effects of smoking.
Freiman A, Bird G, Metelitsa AI, Barankin B, Lauzon GJ
J Cutan Med Surg 2004 Nov-Dec;8(6):415-23. doi: 10.1007/s10227-005-0020-8. PMID: 15988548

Recent systematic reviews

Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
Simmers R, Goodwin A, Al Saif H, Couser N
Ophthalmic Genet 2022 Oct;43(5):699-702. Epub 2022 Jun 27 doi: 10.1080/13816810.2022.2089358. PMID: 35762114
Hallermann Streiff syndrome: Cranio-facial manifestations systematic review and report of two cases.
Preudhomme R, Veyssiere A, Ambroise B, Benateau H
J Stomatol Oral Maxillofac Surg 2022 Sep;123(4):e219-e223. Epub 2021 Nov 17 doi: 10.1016/j.jormas.2021.11.002. PMID: 34800747
The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X-linked hypohidrotic ectodermal dysplasia: A systematic review.
Anbouba GM, Carmany EP, Natoli JL
Am J Med Genet A 2020 Apr;182(4):831-841. Epub 2020 Jan 25 doi: 10.1002/ajmg.a.61493. PMID: 31981414
Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review.
Schnabl D, Grunert I, Schmuth M, Kapferer-Seebacher I
J Oral Rehabil 2018 Jul;45(7):555-570. Epub 2018 May 9 doi: 10.1111/joor.12638. PMID: 29679503
Acrokeratosis paraneoplastica (Bazex syndrome) - a systematic review on risk factors, diagnosis, prognosis and management.
Räßler F, Goetze S, Elsner P
J Eur Acad Dermatol Venereol 2017 Jul;31(7):1119-1136. Epub 2017 Apr 19 doi: 10.1111/jdv.14199. PMID: 28273374

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