Hereditary mucoepithelial dysplasia is a dominantly inherited disease, mainly characterized by chronic mucosal lesions associated with keratitis, non-scarring alopecia, keratosis pilaris and perineal intertrigo.
Since the original report by Witkop, this condition has been considered to be a disorder of desmosome/gap junction formation, but there has been no ex vivo investigation of these components using genetic and immunolabelling techniques.
Differential diagnosis
chronic mucocutaneous candidiasis
other follicular keratosis syndromes
- ichthyosis follicularis-alopecia-photophobia (IFAP)
- keratitis-ichthyosis-deafness (KID)
- Siemens syndrome
See also
oral mucosa
Skin
electron microscopy
immunocytochemistry
microsatellite genotyping
References
Boralevi F, Haftek M, Vabres P, Lepreux S, Goizet C, Leaute-Labreze C, Taieb A. Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review. Br J Dermatol. 2005 Aug;153(2):310-8. PMID: 16086741