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. @1@ 2
↑ 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)

[Orpha-1] Schöpf-Schulz-Passarge syndrome. In: Orphanet (Rare Disease Database).

[Altmeyer-2] 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. @1@ 2

[3] 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 .

[4] SCHOPF-SCHULZ-PASSARGE SYNDROME. In: Online Mendelian Inheritance in Man . (English)