Schopf-Schulz-Passarge syndrome

Definition

Schopf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia resulted from mutations in the WNT10A. The combination of multiple eyelid apocrine hidrocystomas, hypodontia, palmoplantar keratoderma, hypotrichosis and nail dystrophy characterize the disease.

References:

[1]. Gabriela Petrof, et al. Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A. Australas J Dermatol. 2011 Aug;52(3):224-6. [Content Brief]

[2]. M Castori, et al. Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. Clin Genet. 2011 Jan;79(1):92-5. [Content Brief]

[3]. Marco Castori, et al. Schöpf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations. Acta Derm Venereol. 2008;88(6):607-12. [Content Brief]

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