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Items: 3

1.

Hereditary mucoepithelial dysplasia

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]

MedGen UID:
220887
Concept ID:
C1274795
Congenital Abnormality
2.

Candidiasis, familial, 3

MedGen UID:
335927
Concept ID:
C1843306
Disease or Syndrome
3.

Chronic monilial nail infection

Chronic infection of the nails by Candida species. [from HPO]

MedGen UID:
870245
Concept ID:
C4024683
Pathologic Function
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