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Hereditary mucoepithelial dysplasia
Other Names for this Disease
- Mucoepithelial dysplasia, hereditary
- Urban-Schosser-Spohn syndrome
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mucosa (areas of the body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.Hereditary mucoepithelial dysplasia (HMD) is a condition that affects the skin, hair,
Last updated: 11/18/2010
- Urban MD, Schosser R, Spohn W, Wentling WO, Robinow M. New Clinical Aspects of Hereditary Mucoepithelial Dysplasia. American Journal of Medical Genetics. June 1, 1991; 39(3):338-341.
- Cassandra L. Kniffin. Mucoepithelial Dysplasia, Hereditary. OMIM. May 20, 2010; http://www.ncbi.nlm.nih.gov/omim. Accessed 11/15/2010.
- C J Witkop, Jr, J G White, R A King, M V Dahl, W G Young, and J J Sauk, Jr. Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation.. American Journal of Human Genetics. July 1979; 31(4):414-427.
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In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hereditary mucoepithelial dysplasia. Click on the link to go to OMIM and review these resources.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary mucoepithelial dysplasia. Click on the link to view a sample search on this topic.