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Division

Capital

Hospital

LewisGale-Salem

Specialty

Dermatology

Document Type

Poster

Publication Date

6-2020

Keywords

x-linked genetic diseases, simpson syndrome, SGBS, Simpson-Golabi-Behmel Syndrome

Disciplines

Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Dermatology

Abstract

Simpson-Golabi-Behmelsyndrome is a rare, X-linked recessive syndrome associated with mutations in the genes encoding glypican 3 (GPC3). The majority of cases have been described in pediatric males, with those affected showing manifestations of overgrowth, congenital heart defects, and increased incidence of neoplasia. Due to the X-linked nature of this disorder, penetrance is not well understood in female cases. Very few cases of female presentations of Simpson-Golabi-Behmelsyndrome have been described. We present a case of GPC3 gene mutation suggestive of Simpson-Golabi-Behmelsyndrome in an adult female patient, diagnosed based on genetic testing performed due to a diagnosis of sebaceous carcinoma.

A Case of Simpson-Golabi-Behmel Syndrome Presenting with Cutaneous Findings

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