Schopf-Schulz-Passarge syndrome

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Schopf-Schulz-Passarge syndrome2016-11-28T02:42:06+00:00

Schopf-Schulz-Passarge syndrome

DERMATOLOGY

A rare autosomal recessive ectodermal dysplasia (OMIM:224750) and genodermatosis characterised by cysts and apocrine hidrocystomas of the eyelid margins, palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy and skin appendage tumours–e.g., eccrine syringofibroadenoma.

Molecular pathology Defects in WNT10A—which encodes a WNT family protein and ligand for the frizzled family of 7 transmembrane receptors, that is thought to act as a signaling molecule in CNS development—cause Schopf-Schulz-Passarge syndrome.

Synonyms Eccrine tumours with ectodermal dysplasia—keratosis palmoplantaris with cystic eyelids—hypodontia—and hypotrichosis 

References http://www.uniprot.org/uniprot/Q9GZT5

http://www.omim.org/entry/224750

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