Mucoepithelial hereditary dysplasia
| Classification according to ICD-10 | |
|---|---|
| L98.9 | Disease of the skin and subcutaneous tissue, unspecified |
| ICD-10 online (WHO version 2019) | |
The Mukoepitheliale hereditary dysplasia or urban bolters-Spohn syndrome is a rare congenital disorder with onset in childhood mucosal defects.
The name refers to the first description from 1991 by MD Urban and colleagues.
distribution
The frequency is unknown; the inheritance is autosomal dominant .
Clinical manifestations
Mucous membrane defects in the mouth, nose, conjunctiva, on the neck, in the vagina, perineal , in the urethra and bladder occur in early childhood . It comes to cataract , blindness, alopecia without scarring, follicular keratosis .
literature
- LA Leithauser, DF Mutasim: Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions. In: Journal of Cutaneous Pathology . Vol. 39, No. 4, April 2012, ISSN 1600-0560 , pp. 431-439, doi : 10.1111 / j.1600-0560.2011.01857.x , PMID 22443394 (review).
Individual evidence
- ↑ a b Mucoepithelial hereditary dysplasia. In: Orphanet (Rare Disease Database).
- ^ MD Urban, R. Schosser, W. Spohn, WO Wentling, M. Robinow: New clinical aspects of hereditary mucoepithelial dysplasia. In: American journal of medical genetics. Vol. 39, No. 3, June 1991, ISSN 0148-7299 , pp. 338-341, doi : 10.1002 / ajmg.1320390318 , PMID 1867287 .
- ^ Mucoepithelial hereditary dysplasia. In: Online Mendelian Inheritance in Man . (English)
