García-Hafner-Happle syndrome
| Classification according to ICD-10 | |
|---|---|
| Q85.8 | Other phacomatoses, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The García-Hafner-Happle syndrome is a rare special form of the epidermal nevus syndrome .
Synonyms are: Fibroblast growth factor receptor 3 epidermal nevus syndrome; FGFR3 epidermal nevus syndrome
The name refers to the main authors of the first description from 2008 by the dermatologists Alejandro García-Vargas ( Mexico ), Christian Hafner and Rudolf Happle from Germany.
distribution
Frequency and mode of inheritance are unknown.
root cause
The disease are mosaic R248C- mutations in FGFR3 - gene on chromosome 4 locus p16.3 basis that for the FGF encoding receptor 3rd
Clinical manifestations
Clinical criteria are:
- Keratinocytic epidermal nevus
- neurological abnormalities such as seizures , intellectual disability , atrophy of the cerebral cortex and lack of bars
- no skeletal abnormalities
literature
- SD Desai, R. Vora, S. Bharani: Garcia-Hafner-Happle syndrome: A case report and review of a rare sub-type of epidermal nevus syndrome. In: Journal of pediatric neurosciences. Vol. 9, No. 1, January 2014, pp. 66-69, doi: 10.4103 / 1817-1745.131493 , PMID 24891911 , PMC 4040040 (free full text).
- R. Happle: The group of epidermal nevus syndromes Part I. Well defined phenotypes. In: Journal of the American Academy of Dermatology. Vol. 63, No. 1, July 2010, pp. 1-22, doi: 10.1016 / j.jaad.2010.01.017 , PMID 20542174 (review).
Individual evidence
- ↑ a b Rarediseases
- ^ A. García-Vargas, C. Hafner, AG Pérez-Rodríguez, LX Rodríguez-Rojas, P. González-Esqueda, R. Stoehr, M. Hernández-Torres, R. Happle: An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. In: American Journal of Medical Genetics. Part A. Vol. 146A, No. 17, September 2008, pp. 2275-2279, doi: 10.1002 / ajmg.a.32429 , PMID 18642369 .
- ↑ FGFR3. In: Online Mendelian Inheritance in Man . (English)
