Intraocular Melanoma as an Initial Presentation of Birt–Hogg–Dubé Syndrome
Birt–Hogg–Dubé syndrome is a rare autosomal-dominant genodermatosis that affects approximately 2 in every 1 million people. A 68-year-old man presented to his yearly wellness visit with concerns of intermittent sensations and blurriness in his left eye, prompting referral to the ophthalmology depart...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
American College of Physicians
2025-06-01
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| Series: | Annals of Internal Medicine: Clinical Cases |
| Online Access: | https://www.acpjournals.org/doi/10.7326/aimcc.2024.1087 |
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| Summary: | Birt–Hogg–Dubé syndrome is a rare autosomal-dominant genodermatosis that affects approximately 2 in every 1 million people. A 68-year-old man presented to his yearly wellness visit with concerns of intermittent sensations and blurriness in his left eye, prompting referral to the ophthalmology department. Fundoscopic examination revealed an intraocular mass and a diagnosis of choroidal melanoma in the left eye was made. The patient received radiation therapy. The patient was referred to a geneticist, who detected a heterozygous germline pathogenic variant in FLCN: c.1389C>G (p.Tyr463*). It is important to incorporate a multidisciplinary approach, including a geneticist, to appropriately manage further work-up. |
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| ISSN: | 2767-7664 |