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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| Format: | Article |
| Language: | English |
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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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| _version_ | 1849689626814447616 |
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| author | Emily Saurborn William Snider Charles Meadows |
| author_facet | Emily Saurborn William Snider Charles Meadows |
| author_sort | Emily Saurborn |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-8eed9087630d43d1913033da18beef7a |
| institution | DOAJ |
| issn | 2767-7664 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | American College of Physicians |
| record_format | Article |
| series | Annals of Internal Medicine: Clinical Cases |
| spelling | doaj-art-8eed9087630d43d1913033da18beef7a2025-08-20T03:21:34ZengAmerican College of PhysiciansAnnals of Internal Medicine: Clinical Cases2767-76642025-06-014610.7326/aimcc.2024.1087Intraocular Melanoma as an Initial Presentation of Birt–Hogg–Dubé SyndromeEmily Saurborn0William Snider1Charles Meadows21Department of Internal Medicine, Joan C. Edwards School of Medicine, Marshall University, Huntington, West Virginia1Department of Internal Medicine, Joan C. Edwards School of Medicine, Marshall University, Huntington, West Virginia1Department of Internal Medicine, Joan C. Edwards School of Medicine, Marshall University, Huntington, West VirginiaBirt–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.https://www.acpjournals.org/doi/10.7326/aimcc.2024.1087 |
| spellingShingle | Emily Saurborn William Snider Charles Meadows Intraocular Melanoma as an Initial Presentation of Birt–Hogg–Dubé Syndrome Annals of Internal Medicine: Clinical Cases |
| title | Intraocular Melanoma as an Initial Presentation of Birt–Hogg–Dubé Syndrome |
| title_full | Intraocular Melanoma as an Initial Presentation of Birt–Hogg–Dubé Syndrome |
| title_fullStr | Intraocular Melanoma as an Initial Presentation of Birt–Hogg–Dubé Syndrome |
| title_full_unstemmed | Intraocular Melanoma as an Initial Presentation of Birt–Hogg–Dubé Syndrome |
| title_short | Intraocular Melanoma as an Initial Presentation of Birt–Hogg–Dubé Syndrome |
| title_sort | intraocular melanoma as an initial presentation of birt hogg dube syndrome |
| url | https://www.acpjournals.org/doi/10.7326/aimcc.2024.1087 |
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