Wrinkly Skin Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q82.8 | Other specified congenital malformations of the skin - cutis laxa (hyperelastica) |
| ICD-10 online (WHO version 2019) | |
The Wrinkly skin syndrome is a very rare, to the cutis laxa syndromes associated with congenital disease with the main features of sagging skin, joint instability and developmental delay .
Synonyms are: Autosomal recessive cutis laxa type 2; ARCL2
The name was suggested by the authors of the first description from 1973, E. Gazit et al .
distribution
The frequency is given as less than 1 in 1,000,000, so far about 30 affected people have been described. Inheritance is autosomal - recessive .
root cause
The disease are partly mutations in ATP6V0A2 - gene on chromosome 12 locus q24.31 basis, leading to a disorder of glycosylation leads. Mutations in this gene can also be found in the "classic" Cutis laxa type Debré .
Clinical manifestations
Clinical criteria are: Wrinkled skin on the backs of the hands and feet with increased furrows, also on the stomach
- Skeletal abnormalities such as hyperextensible joints, congenital hip dislocation
- later occlusion of the anterior fontanel , microcephaly
- Growth retardation already beginning intrauterine
- Facial abnormalities such as a wide bridge of the nose, downward eyelid slits, hypertelorism
Differential diagnosis
The following are to be distinguished:
literature
- I. Tantcheva-Poor, A. Schuster, U. Kornak, K. Chelius, C. Mauch: Congenital autosomal recessive cutis laxa type II A Wrinkly Skin Syndrome. In: Clinical Pediatrics. Vol. 224, No. 5, September 2012, pp. 322-323, doi: 10.1055 / s-0032-1312677 , PMID 22821296 .
- P. Arora, P. Chakravarty, D. Khanna, R. Gupta: Cutis laxa autosomal recessive type II or wrinkly skin syndrome? In: Indian dermatology online journal. Vol. 7, No. 5, 2016 Sep-Oct, pp. 440-442, doi: 10.4103 / 2229-5178.190512 , PMID 27730053 , PMC 5038118 (free full text).
Individual evidence
- ↑ a b c Wrinkly Skin Syndrome. In: Orphanet (Rare Disease Database).
- ^ E. Gazit, RM Goodman, MB Katznelson, Y. Rotem: The Wrinkly Skin Syndrome: a new heritable disorder of connective tissue. In: Clinical genetics. Vol. 4, No. 3, 1973, pp. 186-192, PMID 4765201 .
- ^ Wrinkly skin syndrome. In: Online Mendelian Inheritance in Man . (English)
