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Genetic and Rare Diseases Information Center (GARD)

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Hereditary mucoepithelial dysplasia


Other Names for this Disease

  • Mucoepithelial dysplasia, hereditary
  • Urban-Schosser-Spohn syndrome
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Overview

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

References

  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; http://www.ncbi.nlm.nih.gov/omim. 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 a 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. 
  • 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.
Other Names for this Disease
  • Mucoepithelial dysplasia, hereditary
  • Urban-Schosser-Spohn syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.