Hereditary mucoepithelial dysplasia Q82.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Dysplasia hereditary mucoepithelial; hereditary mucoepithelial dysplasia; HMD; mucoepithelial dysplasia hereditary; mucoepithelial dysplasia syndrome; OMIM 158130

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A structural one of the desmosomes and gap junctions is present.

Clinical features
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Non-scarring alopecia, focal mucosal erythema, psoriasiforme perinal intertrigo, cataracts and involvement of the conjunctiva. Involvement of the mucous membranes of the respiratory tract was observed in one family. It usually appears later (recurrent pneumonia, pulmonary fibrosis, pneumothorax (overview see Boralevi et al., 2005).

Urban et al. (1991) described a family over 5 generations in which the affected persons showed the characteristic histological and electron microscopic findings (lack of gap junctions and desmosomes). A bright red colouring of the gingiva and the adjacent hard palate was striking.

Rogers et al (1994) reported a 20-year-old Australian man with sporadic progressive HMD. Clinically noticeable were conjunctivitis, corneal opacities. Further signs of diffuse alopecia, psoriasiform plaques over the joint surfaces, keratosis pilaris as well as a bright red tongue.

Boralevi et al (2005) also reported a family in which 5 patients had hereditary mucoepithelial dysplasia. Lung involvement was absent in this family. The working group of Halawa M et al (2015) reported on lung involvement.

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  1. Boralevi F et al (2005) Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review. Brit J Derm 153: 310-318
  2. Halawa M et al (2015) Hereditary mucoepithelial dysplasia and severe respiratory distress.
    Respir Med Case Rep 15:27-9.
  3. Rogers M et al (1994) Hereditary mucoepithelial dysplasia. Pediatrics Derm 11: 133-138
  4. Urban M D et al (1991) New clinical aspects of hereditary mucoepithelial dysplasia. At J Med Genet 39: 338-341
  5. Witkop C J et al (1979) Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation. At J Hum Genet 31: 414-427

Outgoing links (2)

Desmosomes; Gap junctions;


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Last updated on: 29.10.2020