U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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).
 
Gene (location): 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
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.
Sparse eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
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).
Leukonychia
MedGen UID:
68698
Concept ID:
C0240182
Finding
White discoloration of the nails.
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.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Sparse axillary hair
MedGen UID:
348975
Concept ID:
C1858574
Finding
Reduced number or density of axillary hair.
Sparse body hair
MedGen UID:
350775
Concept ID:
C1862863
Finding
Sparseness of the body hair.
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.
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.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary 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

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: 19765682Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • 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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...