Schöpf-Schulz-Passarge Syndrome
Classification according to ICD-10 | |
---|---|
Q82.8 | Other specified congenital skin malformations |
ICD-10 online (WHO version 2019) |
The Schöpf-Schulz-Passarge Syndrome (SSPS) is a very rare congenital skin disease ( genodermatosis ) and is counted among the hereditary palmoplantar keratoses as well as ectodermal dysplasia . Additional main characteristics are eccrine tumors , cysts of the eyelids , disorders of the tooth systems ( hypodontia ) and body hair ( hypotrichosis ).
Synonyms are: Schöpf syndrome ; Palmoplantar Ectodermal Dysplasia Type XXIX ; English KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS; ECCRINE TUMORS WITH ECTODERMAL DYSPLASIA
The name refers to the first authors of the first description from 1971 by the German dermatologist and human geneticist Erwin Schöpf , H.-J. Schulz and Eberhard Passarge .
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive or possibly also autosomal dominant .
root cause
The disease is based on mutations in the WNT10A gene at location 2q35.
Clinical manifestations
Clinical criteria are:
- Manifestation in childhood to adolescence
- Hidrocytomas
- Column epithelial cysts and apocrine gland cysts on the eyelids
- Hypotrichosis with lack of eyelashes and eyebrows
- Hypodontia
- Palmoplantar hyperkeratosis
- telangiectatic rosacea
- Nail dystrophy
therapy
Treatment consists of excision or laser treatment of troublesome cysts.
literature
- A. Vilas-Sueiro, B. Monteagudo, D. González-Vilas, A. Varela-Veiga, C. De las Heras: Genetic study in a suspected case of Schöpf-Schulz-Passarge syndrome. In: Indian Journal of Dermatology, Venereology and Leprology . Vol. 81, No. 4, 2015 Jul – Aug, pp. 408–410, doi: 10.4103 / 0378-6323.158657 , PMID 26087098 .
- P. Verplancke, L. Driessen, P. Wynants, JM Naeyaert: The Schöpf-Schulz-Passarge syndrome. In: Dermatology (Basel, Switzerland). Vol. 196, No. 4, 1998, pp. 463-466, PMID 9669133 .
Individual evidence
- ↑ a b c Schöpf-Schulz-Passarge syndrome. In: Orphanet (Rare Disease Database).
- ↑ a b c Altmeyer Encyclopedia Dermatology ( Memento of the original from January 14, 2016 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice.
- ↑ E. Schöpf, HJ Schulz, E. Passarge: Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. In: Birth defects original article series. Vol. 7, No. 8, June 1971, pp. 219-221, PMID 4281327 .
- ↑ SCHOPF-SCHULZ-PASSARGE SYNDROME. In: Online Mendelian Inheritance in Man . (English)