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GTR Home > Conditions/Phenotypes > Hereditary hypotrichosis with recurrent skin vesicles

Hereditary hypotrichosis with recurrent skin vesicles

Synonyms
Hypotrichosis and recurrent skin vesicles
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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]

Available tests

3 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDHF3, DSC, DSC1, DSC2, DSC4, HT-CP, DSC3
    Summary: desmocollin 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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