Stiff skin syndrome
| Classification according to ICD-10 | |
|---|---|
| Q82.8 | Other specified congenital skin malformations |
| L98.8 | Other specified diseases of the skin and subcutaneous tissue |
| ICD-10 online (WHO version 2019) | |
The Stiff skin syndrome , English "stiff skin" is a very rare congenital disease with a stiffening due to a hardening of the skin , especially on the joints .
Synonyms are: congenital pseudoscleroderma; english congenital fascial dystrophy; Easterly-McKusick syndrome; Stiff-man syndrome (see note on other disease of the same name, stiff-man syndrome, below)
The first description comes from the year 1968 by the Viennese pediatrician E. Pichler, the name refers to the authors of a report from 1971 by Nancy B. Esterly and Victor Almon McKusick .
The syndrome should not be confused with stiff-man syndrome , a rare neurological disorder.
distribution
The frequency is given as less than 1 in 1,000,000.
root cause
The disease are mutations in FBN1 - gene on chromosome 15 locus q21.1 based encoding fibrillin first
There is an autosomal dominant inherited form and an autosomal - recessive inherited (rare) form.
Clinical manifestations
Clinical criteria are:
- Manifestation at birth or in the first years of life
- Slowly increasing stone-hard induration and caking of the skin with the underlying connective tissue
- Restriction of movement in particular of the knee joints , hip joints , but also of the trunk
- tetanus-like very painful muscle spasms
- increased hairiness and hyperpigmentation of the particular affected areas of skin
In addition, there can be skin nodules, usually the finger or toe joints , compression of nerves , scoliosis and a narrow chest .
There are also primarily eye-related and segmental shapes.
Differential diagnosis
Must be distinguished is the Systemic scleroderma .
literature
- DJ Kurtzman, NA Wright, M. Patel, RA Vleugels: Segmental stiff skin syndrome (SSS): Two additional cases with a positive response to mycophenolate mofetil and physical therapy. In: Journal of the American Academy of Dermatology. Vol. 75, No. 6, December 2016, pp. E237 – e239, doi: 10.1016 / j.jaad.2016.05.047 , PMID 27846975 .
- K. Ogunmakin, R. Vangipuram, A. Sturgeon, I. Shimizu: A 7-year-old with indurated skin and unilateral progressive joint immobility: A case of stiff skin syndrome. In: Dermatology online journal. Vol. 21, No. 9, September 2015, p., PMID 26437281 (Review).
- X. Deng, F. Chen, Z. Song, H. Yan, Y. You, B. Zhong, X. Yang, F. Hao: Four new cases of stiff skin syndrome with unusual presentations. In: Journal of the European Academy of Dermatology and Venereology: JEADV. Vol. 30, No. 1, January 2016, pp. 163-165, doi: 10.1111 / jdv.12657 , PMID 2520030
Individual evidence
- ↑ a b c Stiff skin syndrome. In: Orphanet (Rare Disease Database).
- ↑ a b c d Encyclopedia Dermatology
- ↑ E. Pichler: Hereditary contractures with scleroderma-like skin changes. In: Zeitschrift für Kinderheilkunde, Vol. 104, 1968, pp. 349–361.
- ^ NB Esterly, VA McKusick: Stiff skin syndrome. In: Pediatrics. Vol. 47, No. 2, February 1971, pp. 360-369, PMID 5100776 .
- ↑ Stiff skin syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ Fascial dystrophy, congenital. In: Online Mendelian Inheritance in Man . (English)
- ↑ S. Chamney, B. Cartmill, O. Earley, V. McConnell, CE Willoughby: The ocular phenotype of stiff-skin syndrome. In: Eye. Vol. 30, No. 1, January 2016, pp. 156–159, doi: 10.1038 / eye.2015.183 , PMID 26471116 , PMC 4709530 (free full text).
- ^ KL Myers, A. Mir, JV Schaffer, SA Meehan, SJ Orlow, NK Brinster: Segmental stiff skin syndrome (SSS): A distinct clinical entity. In: Journal of the American Academy of Dermatology. Vol. 75, No. 1, July 2016, pp. 163-168, doi: 10.1016 / j.jaad.2016.01.038 , PMID 26944597 (review).
