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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

Eyebrow growth pattern analysis in patients with eyebrow hypotrichosis after receiving topical treatment: A retrospective study.
Suchonwanit P, Thammarucha S
J Cosmet Dermatol 2020 Jun;19(6):1404-1408. Epub 2019 Sep 21 doi: 10.1111/jocd.13167. PMID: 31541563
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
Optimal management of hair loss (alopecia) in children.
Harrison S, Sinclair R
Am J Clin Dermatol 2003;4(11):757-70. doi: 10.2165/00128071-200304110-00004. PMID: 14572298

Recent clinical studies

Etiology

Hypohidrotic ectodermal dysplasia: clinical and molecular review.
Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, Méndez-Catalá CF, Méndez-Cruz AR, Pozo-Molina G
Int J Dermatol 2018 Aug;57(8):965-972. Epub 2018 May 31 doi: 10.1111/ijd.14048. PMID: 29855039
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):302-14. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31409. PMID: 25169058
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

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
Bazex syndrome.
Shikino K, Ikusaka M
CMAJ 2017 May 1;189(17):E639. doi: 10.1503/cmaj.160912. PMID: 28461377Free PMC Article
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):302-14. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31409. PMID: 25169058
Hair loss in infancy.
Moreno-Romero JA, Grimalt R
G Ital Dermatol Venereol 2014 Feb;149(1):55-78. PMID: 24566566
Common hair loss disorders.
Springer K, Brown M, Stulberg DL
Am Fam Physician 2003 Jul 1;68(1):93-102. PMID: 12887115

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
Imatinib mesylate-induced lichenoid drug eruption.
Penn EH, Chung HJ, Keller M
Cutis 2017 Mar;99(3):189-192. PMID: 28398413
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
Supernumeraries in Nicolaides-Baraitser Syndrome.
Al-Tamimi B, Abela S, Jeremiah HG, Evans RD
Int J Paediatr Dent 2017 Nov;27(6):583-587. Epub 2017 Jun 21 doi: 10.1111/ipd.12309. PMID: 28635076
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
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
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
Pigors M, Schwieger-Briel A, Cosgarea R, Diaconeasa A, Bruckner-Tuderman L, Fleck T, Has C
Acta Derm Venereol 2015 Mar;95(3):337-40. doi: 10.2340/00015555-1974. PMID: 25227139
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
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.
Pantel JT, Zhao M, Mensah MA, Hajjir N, Hsieh TC, Hanani Y, Fleischer N, Kamphans T, Mundlos S, Gurovich Y, Krawitz PM
J Inherit Metab Dis 2018 May;41(3):533-539. Epub 2018 Apr 5 doi: 10.1007/s10545-018-0174-3. PMID: 29623569Free PMC Article
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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