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Schöpf-Schulz-Passarge syndrome
Other Resources UpToDate PubMed

Schöpf-Schulz-Passarge syndrome

Contributors: Regina Parker, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Schöpf‐Schulz‐Passarge syndrome (SSPS) is a rare type of ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, hypodontia, palmoplantar keratoderma (PPK), hypotrichosis, and onychodystrophy.

SSPS is inherited in an autosomal recessive fashion. The disorder is caused by mutations in the WNT10A gene on chromosome 2q35, which codes for a signaling molecule involved in the regulation of cell to cell interactions, a key player in embryogenesis. Sporadic cases have also been reported.

The diagnosis of SSPS is often delayed, as numerous features of the syndrome present after childhood.

Eyelid apocrine hidrocystomas are the most consistent finding of SSPS. They are reported to develop predominantly in adulthood with a mean age of 60 years at diagnosis. There is wide variation in syndrome phenotype, and these hidrocystomas may rarely be the sole manifestation.

The majority of individuals with SSPS have abnormal dentition. Hypodontia is the most frequent finding, but oligodontia, anodontia, conical teeth, and/or hypoplasia of the alveolar processes may be seen. Deciduous teeth may be normal, and onset of hypodontia may therefore occur when deciduous teeth are lost.

The onset of PPK, hypotrichosis, and onychodystrophy is variable; cases with onset in childhood through early adulthood have been reported.

While SSPS has been associated with eccrine syringofibroadenoma, basal cell carcinoma, porocarcinoma, squamous cell carcinoma, and a single case of malignant eccrine syringofibroadenoma, the neoplastic risk of SSPS is debatable. Patients with SSPS have normal life expectancy, and SSPS is generally not considered a cancer-prone syndrome.

For more information on SSPS, see OMIM.

Codes

ICD10CM:
Q82.8 – Other specified congenital malformations of skin

SNOMEDCT:
700062000 – Schöpf-Schulz-Passarge syndrome

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Last Reviewed:07/14/2020
Last Updated:08/18/2020
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Schöpf-Schulz-Passarge syndrome
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Schöpf-Schulz-Passarge syndrome
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