New clinical aspects of hereditary mucoepithelial dysplasia
| Autor: | W. Spohn, Meinhard Robinow, W. O. Wentling, M. D. Urban, R. Schosser |
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| Rok vydání: | 1991 |
| Předmět: |
Male
medicine.medical_specialty Pathology Hereditary mucoepithelial dysplasia Cataract Epithelium Lesion Internal medicine medicine Humans Restrictive lung disease Child Genetics (clinical) Keratoconjunctivitis Genes Dominant Mucous Membrane business.industry Respiratory disease Mouth Mucosa Autosomal dominant trait Alopecia medicine.disease Dyskeratosis Pedigree Endocrinology Esophageal Stenosis Female Differential diagnosis medicine.symptom business Darier Disease |
| Zdroj: | American Journal of Medical Genetics. 39:338-341 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320390318 |
| Popis: | Hereditary mucoepithelial dysplasia (HMD) is a multiepithelial disorder. It is transmitted as an autosomal dominant trait (McKusick: Mendelian Inheritance in Man—Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 8th edition. Baltimore: The Johns Hopkins University Press, pp 499, 1988). HMD is characterized by variable combinations of lesions of skin, hair, orificial mucosa, gingiva, eyes, and lungs. In some previously described patients, the corneal and pulmonary lesions were progressive and led to blindness, recurrent pneumonia, and/or premature death. On light microscopy, the lesion is characterized by dyskeratosis and, on electron microscopy, by a paucity of gap junctions and desmosomes. Here, we describe a new 5′generation kindred in which affected individuals had the same histologic characteristics but a some-what different clinical spectrum and a more benign course. HMD should be considered in the differential diagnosis of childhood alopecia, follicular hyperkeratosis, keratoconjunctivitis, juvenile cataracts, gingival hyperemia, restrictive lung disease, and esophageal stenosis or webs. |
| Databáze: | OpenAIRE |
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