Schöpf - Schulz - Passarge - Syndrome

Last Updated: 2023-07-07

Author(s): Anzengruber F., Navarini A.

ICD11: -

Entity described by

Schöpf et al. 1971

Definition

Palmoplantar keratosis, which is caused by a mutation in the WNT10A gene. In addition to the cutaneous manifestations, hypodonia and hypotrichosis are characteristic. Eyelid cysts are also present in most patients.

Etiopathogenesis

Autosomal – recessive mutation of the WNT10A gene.

Clinical features

Palmoplantar keratosis.

Hypotrichia.

Hypodentia.

Lid cysts.

Diagnosis

Anamnesis.

Clinical.

Genetic analysis.

Dental consultation.

Therapy

Keratolysis.

Refatting extender.

Dental or orthodontic check-ups.

References

Manchanda N, Anthonappa R, Al-Mulla H, King N. Long-term dental management of a patient with features of Schöpf-Schulz-Passargesyndrome. Spec Care Dentist. 2017 Jul;37(4):204-208.
Painsi C, Aubell K, Wolf P, Hügel R, Lange-Asschenfeldt B. A case of Schöpf-Schulz-Passarge syndrome caused by c.1135C>T WNT10A missense mutation. J Dtsch Dermatol Ges. 2017 Apr;15(4):455-457.