Files

Download

Download Poster or Presentation (406 KB)

Division

Capital

Hospital

LewisGale Medical Center

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
COinS
 
 

To view the content in your browser, please download Adobe Reader or, alternately,
you may Download the file to your hard drive.

NOTE: The latest versions of Adobe Reader do not support viewing PDF files within Firefox on Mac OS and if you are using a modern (Intel) Mac, there is no official plugin for viewing PDF files within the browser window.