genetic diseases, X-linked; Simpson Golabi Behmel syndrome; gigantism; congential, hereditary, and neonatal diseases and abnormalities; sebaceous carcinoma; Muir-Torre syndrome; heterozygous GPC3 mutation; biopsy; neoplasms; sebaceous gland neoplasms


Dermatology | Genetic Processes | Medical Genetics


Simpson-Golabi-Behmel syndrome 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-Behmel syndrome have been described, and this case highlights that there may be an association between mutated GPC3 carrier status and other cancers. We present a case of GPC3 gene mutation suggestive of Simpson-Golabi-Behmel syndrome in an adult female patient, diagnosed based on genetic testing performed due to a diagnosis of sebaceous carcinoma.