Global InformationHereditary mucoepithelial dysplasia information
| Hereditary mucoepithelial dysplasia | |
|---|---|
| Other names | Urban-Schosser-Spohn syndrome, HMD |
 Structure and location of desmosomes  Gap junctions, connecting the interior of two cells | |
| Malformation of desmosomes and gap junctions are caused in this condition | |
| Specialty | Dermatology  |
Hereditary mucoepithelial dysplasia (HMD), or simply mucoepithelial dysplasia,[1][2] is a rare autosomal dominant multiepithelial disorder causing systemic maldevelopment of the epithelia and mucous membranes that line the surface of tissues and structures throughout the body, particularly affecting systems affiliated with mucosa, which includes the respiratory, digestive, urinary, reproductive and immune systems.[2][3][4][5][6] The disorder is attributed to improper formation of desmosomes and gap junctions, which prevents proper cornification of the epithelial layer of the skin.[5][7]
- ^ Online Mendelian Inheritance in Man (OMIM): 158310
- ^ a b Bredrup, C.; Knappskog, P. M.; Majewski, J.; Rødahl, E.; Boman, H. (February 2005). "Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene". Invest Ophthalmol Vis Sci. 46 (2): 420–426. doi:10.1167/iovs.04-0804. PMID 15671264.
- ^ Putran J, S. C.; Sowden, C. (October 2007). "Abnormal cervical smear in hereditary mucoepithelial dysplasia: a case report". Journal of Lower Genital Tract Disease. 11 (4): 274–275. doi:10.1097/LGT.0b013e31803c4de0. ISSN 1089-2591. PMID 17917573.
- ^ Scheman, A.; Ray, D.; Witkop Jr, C.; Dahl, M. (Aug 1989). "Hereditary mucoepithelial dysplasia. Case report and review of the literature". Journal of the American Academy of Dermatology. 21 (2 Pt 2): 351–357. doi:10.1016/S0190-9622(89)80033-7. ISSN 0190-9622. PMID 2666466.
- ^ a b Witkop Jr, C. J.; White, J. G.; King, R. A.; Dahl, M. V.; Young, W. G.; Sauk Jr, J. J. (Jul 1979). "Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation". American Journal of Human Genetics. 31 (4): 414–427. ISSN 0002-9297. PMC 1685894. PMID 484550.
- ^ Rogers, M.; Kourt, G.; Cameron, A. (Jun 1994). "Hereditary mucoepithelial dysplasia". Pediatric Dermatology. 11 (2): 133–138. doi:10.1111/j.1525-1470.1994.tb00567.x. ISSN 0736-8046. PMID 8041653. S2CID 39481017.
- ^ Witkop Jr, C. J.; White, J. G.; Waring, G. O. (1982). "Hereditary mucoepithelial dysplasia, a disease of gap junction and desmosome formation". Birth Defects Original Article Series. 18 (6): 493–511. ISSN 0547-6844. PMID 7171771.