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Hypotrichosis 2(HYPT2)

MedGen UID:
374435
Concept ID:
C1840299
Disease or Syndrome
Synonyms: HYPOTRICHOSIS SIMPLEX OF THE SCALP 1; HYPOTRICHOSIS, SPANISH TYPE; HYPT2
SNOMED CT: Hereditary hypotrichosis simplex of scalp (717256009); Hypotrichosis simplex of scalp (717256009)
 
Gene (location): CDSN (6p21.33)
 
Monarch Initiative: MONDO:0007805
OMIM®: 146520

Definition

Hypotrichosis simplex can affect all body hair or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by Betz et al., 2000). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389. [from OMIM]

Clinical features

From HPO
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
Abnormal nail morphology
MedGen UID:
163115
Concept ID:
C0853087
Anatomical Abnormality
Abnormal structure or appearance of the nail.

Professional guidelines

PubMed

Rudnicka L, Arenbergerova M, Grimalt R, Ioannides D, Katoulis AC, Lazaridou E, Olszewska M, Ovcharenko YS, Piraccini BM, Prohic A, Rakowska A, Reygagne P, Richard MA, Soares RO, Starace M, Vañó-Galvan S, Waskiel-Burnat A
J Eur Acad Dermatol Venereol 2024 Apr;38(4):687-694. Epub 2024 Jan 2 doi: 10.1111/jdv.19768. PMID: 38169088
Barton VR, Toussi A, Awasthi S, Kiuru M
J Am Acad Dermatol 2022 Jun;86(6):1318-1334. Epub 2021 Apr 30 doi: 10.1016/j.jaad.2021.04.077. PMID: 33940103Free PMC Article
Zhou C, Li X, Wang C, Zhang J
Clin Rev Allergy Immunol 2021 Dec;61(3):403-423. Epub 2021 Aug 17 doi: 10.1007/s12016-021-08883-0. PMID: 34403083

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