Konigsmark-Hollander-Berlin syndrome
| Classification according to ICD-10 | |
|---|---|
| H90 | Hearing loss due to conductive or sensory sound disorder |
| ICD-10 online (WHO version 2019) | |
The Konigsmark-Hollander-Berlin syndrome is a very rare congenital disease with the main features of a non-progressive inner ear hearing loss combined with atopic dermatitis .
Synonyms are: deafness dermatitis syndrome; english Konigsmark syndrome
The name refers to the first authors of the first description from 1967 and 1968 by the US ENT doctors Bruce W. Konigsmark (1928–1973), Mark B Hollander and Charles I Berlin .
distribution
Inheritance is autosomal - recessive .
Clinical manifestations
Clinical criteria are:
- non- progressive inner ear hearing loss from childhood
- atopic dermatitis with papular , erythematous , itchy changes on the elbow joint and hands
- possibly ichthyosiform changes
Individual evidence
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ^ BW Konigsmark, CI Berlin, MB Hollander, VA McKusick: Study of familial deafness: Hearing loss associated with dermatitis. In: Excerpta med Int Congr Series No 175 (Progress in Neurogenetics) Vol I of the 2nd Internat Congr of neuro-Genetics and Neuro-Ophthalmology, Montreal, 1967.
- ^ Who named it Konigsmark-Hollander-Berlin syndrome
- ^ Who named it Konigsmark
- ^ BW Konigsmark, MB Hollander, CI Berlin: Familial neural hearing loss and atopic dermatitis. In: JAMA . Vol. 204, No. 11, June 1968, pp. 953-957, PMID 5694684 .
- ↑ DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS. In: Online Mendelian Inheritance in Man . (English)
