" /> Mucoepithelial dysplasia, hereditary - CISMeF





Preferred Label : Mucoepithelial dysplasia, hereditary;

Symbol : HMD;

CISMeF acronym : HMD;

Type : Phenotype, molecular basis known;

Description : 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 (review by Boralevi et al., 2005).;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Eosinophilia, mild;

Prefixed ID : #158310;

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29/07/2025


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