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

Authors

Tessa B. Mullins, HCA HealthcareFollow
Abigail Russell, HCA HealthcareFollow
Chad Johnston, HCA HealthcareFollow

Files

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.

Recommended Citation

Mullins, Tessa B.; Russell, Abigail; and Johnston, Chad, "A Case of Simpson-Golabi-Behmel Syndrome Presenting with Cutaneous Findings" (2020). Capital Division Virtual Research Day 2020. 2.
https://scholarlycommons.hcahealthcare.com/capital2020/2