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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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Your Question

How many individuals in the United States have been diagnosed with hereditary mucoepithelial dysplasia (HMD)? Is there any research on HMD in progress? Are there any HMD support groups?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is hereditary mucoepithelial dysplasia (HMD)?

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

How many individuals in the United States have been diagnosed with hereditary mucoepithelial dysplasia (HMD)?

Hereditary mucoepithelial dysplasia (HMD) is a very rare condition.  Because of this, there has been little research on HMD, including the prevalence of the condition. It is not currently known how many individuals have been diagnosed with HMD, or how many individuals may have the condition and have not been diagnosed.
Last updated: 11/17/2010

Is research on hereditary mucoepithelial dysplasia (HMD) currently being performed?

The National Institutes of Health, through the National Library of Medicine, developed to provide patients, family members, and members of the public with current information on clinical research studies. No studies involving hereditary mucoepithelial dysplasia are listed at this time, but check this site often for updates. To search for a study, use "mucoepithelial dysplasia" as your search term.
Last updated: 11/17/2010

Are there any support groups for individuals or families that have hereditary mucoepithelial dysplasia (HMD)?

At this time there are no specific support organizations for individuals or families that have hereditary mucoepithelial dysplasia. For a listing of groups that provide a wide range of services, supportive resources and information, click here.
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; 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.