Humpath.com - Human pathology

Home > E. Pathology by systems > Skin > hereditary mucoepithelial dysplasia

hereditary mucoepithelial dysplasia

MIM.158310

Sunday 5 February 2006

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