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Hereditary mucoepithelial dysplasia

Other Names for this Disease
  • Mucoepithelial dysplasia, hereditary
  • Urban-Schosser-Spohn syndrome
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Hereditary mucoepithelial dysplasia (HMD) is a condition that affects the skin, hair, mucosa (areas of the body that are lined with mucus), gums (gingiva), eyes, nose and lungs.[1] 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.[2] The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact.[3] 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.
Last updated: 11/18/2010


  1. 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.
  2. Cassandra L. Kniffin. Mucoepithelial Dysplasia, Hereditary. OMIM. May 20, 2010; Accessed 11/15/2010.
  3. 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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  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
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