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GTR Home > Conditions/Phenotypes > Hereditary mucoepithelial dysplasia

Hereditary mucoepithelial dysplasia

Synonyms
Urban-Schosser-Spohn syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant genodermatosis characterized by onset in infancy of a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Patients develop cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses (Witkop et al., 1982). Although 1 family was reported to have progressive severe interstitial lung disease (Witkop et al., 1979), this feature has not been reported in other families and is not considered a criterion for diagnosis. However, the clinical triad of nonscarring alopecia, well-demarcated fiery red mucosa, and psoriasiform perineal involvement has been consistently observed (review by Boralevi et al., 2005). [from OMIM]

Available tests

1 test is in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HMD, IFAP2, SREBP1, bHLHd1, SREBF1
    Summary: sterol regulatory element binding transcription factor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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