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Hypotrichosis simplex

MedGen UID:
344257
Concept ID:
C1854310
Disease or Syndrome
Synonym: Hereditary hypotrichosis simplex
SNOMED CT: Hereditary hypotrichosis simplex (723362004); Hypotrichosis simplex (723362004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0018914
OMIM®: 605389
Orphanet: ORPHA55654

Definition

Disorder with characteristics of reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. Prevalence is unknown but numerous large pedigrees with several affected members have been described. Both men and women are equally affected. Hair loss is diffuse and progressive and usually begins during early childhood. Body hair may also be sparse with variable involvement of the eyebrows, eyelashes, and pubic and axillary hair. There are no anomalies of the skin, nails or teeth. A scalp-limited form has also been reported with mutations in the corneodesmosin (CDSN) gene. Both autosomal dominant and recessive modes of transmission have been reported for this disorder. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypotrichosis simplex
Follow this link to review classifications for Hypotrichosis simplex in Orphanet.

Professional guidelines

PubMed

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
Wang S, Yang Z, Liu Y, Zhao MT, Zhao J, Zhang H, Liu ZY, Wang XL, Ma L, Yang YH
World J Pediatr 2021 Dec;17(6):568-575. Epub 2021 Nov 17 doi: 10.1007/s12519-021-00469-2. PMID: 34787828

Recent clinical studies

Etiology

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
Kolb-Mäurer A, Betz RC, Hamm H
JAMA Dermatol 2014 May;150(5):567-8. doi: 10.1001/jamadermatol.2013.8078. PMID: 24647624
Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schäfer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrándiz C, Nöthen MM, Fischer U, Betz RC
Am J Hum Genet 2013 Jan 10;92(1):81-7. Epub 2012 Dec 13 doi: 10.1016/j.ajhg.2012.10.022. PMID: 23246290Free PMC Article
Pasternack SM, von Kügelgen I, Müller M, Oji V, Traupe H, Sprecher E, Nöthen MM, Janecke AR, Betz RC
J Invest Dermatol 2009 Dec;129(12):2772-6. Epub 2009 Jun 18 doi: 10.1038/jid.2009.154. PMID: 19536142
Pasternack SM, Murugusundram S, Eigelshoven S, Müller M, Kruse R, Lehmann P, Betz RC
Arch Dermatol Res 2009 Sep;301(8):621-4. Epub 2009 Jun 16 doi: 10.1007/s00403-009-0971-5. PMID: 19529952

Diagnosis

Ramadan WM, Hassan AM, El-Hawary EE, Gomaa NS
J Dermatolog Treat 2023 Dec;34(1):2169575. Epub 2023 Mar 2 doi: 10.1080/09546634.2023.2169575. PMID: 36651821
Hua S, Ding Y, Zhang J, Qian Q, Li M
J Dermatol 2021 Mar;48(3):408-412. Epub 2020 Nov 22 doi: 10.1111/1346-8138.15697. PMID: 33222230
van der Velden JJAJ, van Geel M, Engelhart JJ, Jonkman MF, Steijlen PM
J Dermatol 2020 Jan;47(1):3-7. Epub 2019 Oct 29 doi: 10.1111/1346-8138.15136. PMID: 31663161Free PMC Article
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
Just M, Ribera M, Fuente MJ, Bielsa I, Ferrándiz C
Dermatology 1998;196(3):339-42. doi: 10.1159/000017909. PMID: 9621144

Therapy

Ramadan WM, Hassan AM, El-Hawary EE, Gomaa NS
J Dermatolog Treat 2023 Dec;34(1):2169575. Epub 2023 Mar 2 doi: 10.1080/09546634.2023.2169575. PMID: 36651821
Wang S, Yang Z, Liu Y, Zhao MT, Zhao J, Zhang H, Liu ZY, Wang XL, Ma L, Yang YH
World J Pediatr 2021 Dec;17(6):568-575. Epub 2021 Nov 17 doi: 10.1007/s12519-021-00469-2. PMID: 34787828
Peled A, Samuelov L, Sarig O, Bochner R, Malki L, Pavlovsky M, Pichinuk E, Weil M, Sprecher E
Br J Dermatol 2020 Jul;183(1):114-120. Epub 2019 Dec 26 doi: 10.1111/bjd.18718. PMID: 31746457

Prognosis

Kolb-Mäurer A, Betz RC, Hamm H
JAMA Dermatol 2014 May;150(5):567-8. doi: 10.1001/jamadermatol.2013.8078. PMID: 24647624
Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schäfer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrándiz C, Nöthen MM, Fischer U, Betz RC
Am J Hum Genet 2013 Jan 10;92(1):81-7. Epub 2012 Dec 13 doi: 10.1016/j.ajhg.2012.10.022. PMID: 23246290Free PMC Article
Nahum S, Morice-Picard F, Taieb A, Sprecher E
Clin Exp Dermatol 2011 Mar;36(2):188-94. Epub 2010 Nov 10 doi: 10.1111/j.1365-2230.2010.03944.x. PMID: 21070332
Caubet C, Bousset L, Clemmensen O, Sourigues Y, Bygum A, Chavanas S, Coudane F, Hsu CY, Betz RC, Melki R, Simon M, Serre G
FASEB J 2010 Sep;24(9):3416-26. Epub 2010 May 6 doi: 10.1096/fj.10-155622. PMID: 20448140

Clinical prediction guides

Peled A, Samuelov L, Sarig O, Bochner R, Malki L, Pavlovsky M, Pichinuk E, Weil M, Sprecher E
Br J Dermatol 2020 Jul;183(1):114-120. Epub 2019 Dec 26 doi: 10.1111/bjd.18718. PMID: 31746457
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
Zhou C, Zang D, Jin Y, Wu H, Liu Z, Du J, Zhang J
Hum Mutat 2011 Jul;32(7):710-4. Epub 2011 Apr 26 doi: 10.1002/humu.21503. PMID: 21412954
Caubet C, Bousset L, Clemmensen O, Sourigues Y, Bygum A, Chavanas S, Coudane F, Hsu CY, Betz RC, Melki R, Simon M, Serre G
FASEB J 2010 Sep;24(9):3416-26. Epub 2010 May 6 doi: 10.1096/fj.10-155622. PMID: 20448140
Pasternack SM, von Kügelgen I, Müller M, Oji V, Traupe H, Sprecher E, Nöthen MM, Janecke AR, Betz RC
J Invest Dermatol 2009 Dec;129(12):2772-6. Epub 2009 Jun 18 doi: 10.1038/jid.2009.154. PMID: 19536142

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