Choroidal Melanoma and Lid Fibrofolliculomas in Birt-Hogg-Dubé Syndrome
March 2011
in “
Ophthalmic genetics
”
TLDR A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
In a case report from 2011, researchers described a 63-year-old patient with Birt-Hogg-Dubé Syndrome (BHDS), a rare inherited condition, who developed choroidal melanoma in addition to multiple lid fibrofolliculomas. BHDS typically predisposes individuals to skin fibrofolliculomas, lung cysts, pneumothorax, and bilateral renal cancer. This report marked the first documented instance of a patient with BHDS also presenting with choroidal melanoma. The findings underscored the importance of thorough examination of the eyelids in patients with BHDS to identify fibrofolliculomas and potentially other associated tumors.
