Schöpf-schulz-passarge syndromeQ87.8
Synonym(s)
MIM 224750; Palmoplantar keratosis with eyelid cysts, hypodentia and hypotrichosis; Schöpf-Schulz-Passarge Syndrome; Schöpf Syndrome; syndrome of cystic eyelids, palmoplantar keratoses, hypodontia and hypotrichosis
HistoryThis section has been translated automatically.
Schöpf, 1971
DefinitionThis section has been translated automatically.
Very rare syndrome belonging to the group of ectodermal dysplasias with cysts of the apocrine glands along the edges of the eyelids, palmoplantar keratosis, hypotrichosis and hypodontia.
Furthermore, the following have been described, depending on the mutation: palmoplatar hyperkeratosis, nail dystrophies, hypoplastic mammilla, rosacea-like facial changes.
EtiopathogenesisThis section has been translated automatically.
Unknown. Autosomal recessive mode of inheritance. The syndrome is caused, similar to onto-oncho-dermal dysplasia (OODD; OMIM 277980), by a mutation of the WNT10A gene located on chromosome 2a35. The WNT10A gene plays an important role in the signalling pathways of the developmental processes of hair follicles, skin and tame morphology.
Differential diagnosisThis section has been translated automatically.
Papillon-Lefèvre syndrome; in the Schöpf syndrome there is no peridontopathy.
TherapyThis section has been translated automatically.
Externally according to the keratosis palmoplantaris diffusa circumscripta.
Progression/forecastThis section has been translated automatically.
Development of squamous cell carcinomas in the infected skin has been described.
LiteratureThis section has been translated automatically.
- Logan CY et al (2004) The Wnt signaling pathway in development and disease. Ann Rev Cell Dev Biol 20:781-810.
- Pauly KJ (2018) Schöpf-Schulz-Passarge syndrome associated with two new missense mutations of the WTNT10A gene. J Dtsch Dermatol Ges 16: 66-69
- Schöpf E et al (1971) Syndromes of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. Birth Defects 8: 219-221