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Hereditary hypotrichosis with recurrent skin vesicles(HYPTSV)

MedGen UID:: 442697
•Concept ID:: C2751292
•: Congenital Abnormality; Disease or Syndrome

Synonym:	Hypotrichosis and recurrent skin vesicles
SNOMED CT:	Hereditary hypotrichosis with recurrent skin vesicles syndrome (724350009); Hypotrichosis and recurrent skin vesicles (724350009)
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 recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	DSC3 (18q12.1)

Monarch Initiative:	MONDO:0013136
OMIM®:	613102
Orphanet:	ORPHA217407

Definition

Hypotrichosis and recurrent skin vesicles (HYPTSV) is characterized by sparse to absent scalp hair, eyebrows, eyelashes, and body hair, as well as recurrent vesicles of scalp and skin. Some patients also exhibit trauma-induced blistering, and anomalies of dental enamel and of nails may be observed (Ayub et al., 2009; Onoufriadis et al., 2020). [from OMIM]

Clinical features

From HPO

Abnormal EKG

MedGen UID:: 105507
•Concept ID:: C0522055
•: Finding

Abnormal rhythm of the heart.

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Angular cheilitis

MedGen UID:: 526202
•Concept ID:: C0221237
•: Disease or Syndrome

A type of inflammation of the lips involving one or both of the corners of the mouth.

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Abnormality of the dentition

MedGen UID:: 78084
•Concept ID:: C0262444
•: Finding

Any abnormality of the teeth.

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Sparse eyebrow

MedGen UID:: 371332
•Concept ID:: C1832446
•: Finding

Decreased density/number of eyebrow hairs.

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Sparse scalp hair

MedGen UID:: 346499
•Concept ID:: C1857042
•: Finding

Decreased number of hairs per unit area of skin of the scalp.

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Epidermal acanthosis

MedGen UID:: 65136
•Concept ID:: C0221270
•: Finding

Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).

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Leukonychia

MedGen UID:: 68698
•Concept ID:: C0240182
•: Finding

White discoloration of the nails.

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Phrynoderma

MedGen UID:: 83101
•Concept ID:: C0334013
•: Disease or Syndrome

A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.

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Sparse eyelashes

MedGen UID:: 375151
•Concept ID:: C1843300
•: Finding

Decreased density/number of eyelashes.

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Sparse axillary hair

MedGen UID:: 348975
•Concept ID:: C1858574
•: Finding

Reduced number or density of axillary hair.

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Sparse body hair

MedGen UID:: 350775
•Concept ID:: C1862863
•: Finding

Sparseness of the body hair.

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Abnormal blistering of the skin

MedGen UID:: 412159
•Concept ID:: C2132198
•: Finding

The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.

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Skin vesicle

MedGen UID:: 818976
•Concept ID:: C3814530
•: Finding

A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.

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Sparse hair

MedGen UID:: 1790211
•Concept ID:: C5551005
•: Finding

Reduced density of hairs.

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Abnormality of head or neck
Abnormality of the cardiovascular system
- Abnormal EKG
Abnormality of the integument

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary hypotrichosis with recurrent skin vesicles

Phenotypic abnormality
- Abnormality of the integument
  - Abnormal skin adnexa morphology
    - Abnormal hair morphology
      - Abnormal hair quantity
        Alopecia
        Hereditary hypotrichosis with recurrent skin vesicles

Follow this link to review classifications for Hereditary hypotrichosis with recurrent skin vesicles in Orphanet.

Recent clinical studies

Clinical prediction guides

A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.

Ayub M, Basit S, Jelani M, Ur Rehman F, Iqbal M, Yasinzai M, Ahmad W
Am J Hum Genet 2009 Oct;85(4):515-20. Epub 2009 Sep 17 doi: 10.1016/j.ajhg.2009.08.015. PMID: 19765682 Free PMC Article

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Hereditary hypotrichosis with recurrent skin vesicles(HYPTSV)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

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Molecular resources

Consumer resources

Reviews

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