Article
A Case of Simpson-Golabi-Behmel Syndrome Presenting with Cutaneous Findings
Capital Division GME Virtual Research Day 2020
Division
Capital
Hospital
LewisGale Medical Center
Specialty
Dermatology
Document Type
Poster
Publication Date
6-1-2020
Keywords
- x-linked genetic diseases,
- simpson syndrome,
- SGBS,
- Simpson-Golabi-Behmel Syndrome
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.
Citation Information
Tessa B Mullins, Abigail Russell and Chad Johnston. "A Case of Simpson-Golabi-Behmel Syndrome Presenting with Cutaneous Findings" (2020) Available at: http://works.bepress.com/chad-johnston2/3/