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Hypotrichosis simplex of the scalp

MedGen UID:
977122
•Concept ID:
CN294233
•
Disease or Syndrome
Synonyms: Hereditary hypotrichosis simplex of the scalp; hereditary hypotrichosis simplex of the scalp; hypotrichosis simplex of the scalp
Modes of inheritance:
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.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019575
Orphanet: ORPHA90368

Definition

Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypotrichosis simplex of the scalp

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
Application of topical gentamicin-a new era in the treatment of genodermatosis.
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

Diagnosis

Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.
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
A sporadic case of congenital hypotrichosis simplex of the scalp: difficulties in diagnosis and classification.
Cambiaghi S, Barbareschi M
Pediatr Dermatol 1999 Jul-Aug;16(4):301-4. doi: 10.1046/j.1525-1470.1999.00079.x. PMID: 10469417
Hereditary hypotrichosis simplex of the scalp.
Rodríguez Díaz E, Fernández Blasco G, Martín Pascual A, Armijo M
Dermatology 1995;191(2):139-41. doi: 10.1159/000246532. PMID: 8520061

Therapy

Application of topical gentamicin-a new era in the treatment of genodermatosis.
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
Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin.
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

A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.
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

Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin.
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
A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.
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
A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.
Betz RC, Lee YA, Bygum A, Brandrup F, Bernal AI, Toribio J, Alvarez JI, Kukuk GM, Ibsen HH, Rasmussen HB, Wienker TF, Reis A, Propping P, Kruse R, Cichon S, Nöthen MM
Am J Hum Genet 2000 Jun;66(6):1979-83. Epub 2000 May 2 doi: 10.1086/302934. PMID: 10793007Free PMC Article

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