Mucoepithelial dysplasia hereditary

Common Name(s)

Mucoepithelial dysplasia hereditary

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. 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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucoepithelial dysplasia hereditary" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Mucoepithelial dysplasia hereditary" returned 1 free, full-text research articles on human participants. First 3 results:

Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation.
 

Author(s): C J Witkop, J G White, R A King, M V Dahl, W G Young, J J Sauk

Journal: Am. J. Hum. Genet.. 1979 Jul;31(4):414-27.

 

A previously unrecognized autosomal dominant syndrome affecting oral, nasal, vaginal, urethral, anal, bladder, and conjunctival mucosa with cataracts, follicular keratosis, nonscarring alopecia, and terminal lung disease is described in a four-generation kindred of German extraction. ...

Last Updated: 28 Nov 1979

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The terms "Mucoepithelial dysplasia hereditary" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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