U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypotrichosis

MedGen UID:
6993
•Concept ID:
C0020678
•
Disease or Syndrome; Finding
Synonym: Hypotrichoses
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

Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors.
Vastarella M, Martora F, Ocampo-Garza S, Patri A, Battista T, Nappa P, Fabbrocini G, Cantelli M
Dermatol Ther 2022 Sep;35(9):e15671. Epub 2022 Jul 4 doi: 10.1111/dth.15671. PMID: 35761391Free PMC Article
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
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

Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4.
Peled A, Sarig O, Mohamad J, Eskin-Schwartz M, Vodo D, Bochner R, Malchin N, Isakov O, Shomron N, Fainberg G, Bertolini M, Paus R, Sprecher E
Am J Med Genet A 2023 Dec;191(12):2806-2812. Epub 2023 Sep 19 doi: 10.1002/ajmg.a.63408. PMID: 37724761
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
The genetics of cognitive epigenetics.
Kleefstra T, Schenck A, Kramer JM, van Bokhoven H
Neuropharmacology 2014 May;80:83-94. Epub 2014 Jan 13 doi: 10.1016/j.neuropharm.2013.12.025. PMID: 24434855
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
Hallermann-Streiff syndrome: a review.
Cohen MM Jr
Am J Med Genet 1991 Dec 15;41(4):488-99. doi: 10.1002/ajmg.1320410423. PMID: 1776643

Diagnosis

Hyperpigmented Flexural Plaques, Hypohidrosis, and Hypotrichosis.
Loyd IA, Weissman AS, Levin J
Cutis 2023 Nov;112(5):E29-E31. doi: 10.12788/cutis.0908. PMID: 38091441
Bazex syndrome.
Shikino K, Ikusaka M
CMAJ 2017 May 1;189(17):E639. doi: 10.1503/cmaj.160912. PMID: 28461377Free PMC Article
The cutaneous manifestations of gastrointestinal malignancy.
Schadt CR
Semin Oncol 2016 Jun;43(3):341-6. Epub 2016 Feb 23 doi: 10.1053/j.seminoncol.2016.02.028. PMID: 27178686
Hair loss in women.
Harfmann KL, Bechtel MA
Clin Obstet Gynecol 2015 Mar;58(1):185-99. doi: 10.1097/GRF.0000000000000081. PMID: 25517757
Steatocystoma multiplex.
Cole LA
Arch Dermatol 1976 Oct;112(10):1437-9. PMID: 962340

Therapy

Revisiting the Safety of Prostaglandin Analog Eyelash Growth Products.
Steinsapir KD, Steinsapir SMG
Dermatol Surg 2021 May 1;47(5):658-665. doi: 10.1097/DSS.0000000000002928. PMID: 33625141
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
Hair loss in women.
Harfmann KL, Bechtel MA
Clin Obstet Gynecol 2015 Mar;58(1):185-99. doi: 10.1097/GRF.0000000000000081. PMID: 25517757
Introduction.
Beer KR
J Drugs Dermatol 2014 Jan;13(1 Suppl):s6. PMID: 24385128
Hallermann-Streiff syndrome: a review.
Cohen MM Jr
Am J Med Genet 1991 Dec 15;41(4):488-99. doi: 10.1002/ajmg.1320410423. PMID: 1776643

Prognosis

Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4.
Peled A, Sarig O, Mohamad J, Eskin-Schwartz M, Vodo D, Bochner R, Malchin N, Isakov O, Shomron N, Fainberg G, Bertolini M, Paus R, Sprecher E
Am J Med Genet A 2023 Dec;191(12):2806-2812. Epub 2023 Sep 19 doi: 10.1002/ajmg.a.63408. PMID: 37724761
SAM syndrome is characterized by extensive phenotypic heterogeneity.
Taiber S, Samuelov L, Mohamad J, Barak EC, Sarig O, Shalev SA, Lestringant G, Sprecher E
Exp Dermatol 2018 Jul;27(7):787-790. doi: 10.1111/exd.13551. PMID: 29604126
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
Genetic hair and nail disorders.
Sprecher E
Clin Dermatol 2005 Jan-Feb;23(1):47-55. doi: 10.1016/j.clindermatol.2004.09.009. PMID: 15708289

Clinical prediction guides

Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4.
Peled A, Sarig O, Mohamad J, Eskin-Schwartz M, Vodo D, Bochner R, Malchin N, Isakov O, Shomron N, Fainberg G, Bertolini M, Paus R, Sprecher E
Am J Med Genet A 2023 Dec;191(12):2806-2812. Epub 2023 Sep 19 doi: 10.1002/ajmg.a.63408. PMID: 37724761
Comparative study of the efficacy and safety of topical minoxidil 2% versus topical bimatoprost 0.01% versus topical bimatoprost 0.03% in treatment of eyebrow hypotrichosis: a randomized controlled trial.
Zaky MS, Hashem OA, Mahfouz SM, Elsaie ML
Arch Dermatol Res 2023 Nov;315(9):2635-2641. Epub 2023 Jul 30 doi: 10.1007/s00403-023-02679-2. PMID: 37517060Free PMC Article
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
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.
Bonnemason-Carrere P, Morice-Picard F, Pennamen P, Arveiler B, Fergelot P, Goizet C, Hellegouarch M, Lacombe D, Plaisant C, Raclet V, Rooryck C, Lasseaux E, Trimouille A
Am J Med Genet A 2019 Jun;179(6):1030-1033. Epub 2019 Mar 23 doi: 10.1002/ajmg.a.61127. PMID: 30903679
SAM syndrome is characterized by extensive phenotypic heterogeneity.
Taiber S, Samuelov L, Mohamad J, Barak EC, Sarig O, Shalev SA, Lestringant G, Sprecher E
Exp Dermatol 2018 Jul;27(7):787-790. doi: 10.1111/exd.13551. PMID: 29604126

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
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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...