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首页> 外文期刊>Retinal cases & brief reports >CHOROIDAL MELANOMA, SECTOR MELANOCYTOSIS, AND RETINAL PIGMENT EPITHELIAL MICRODETACHMENTS IN BIRT-HOGG DUBé SYNDROME
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CHOROIDAL MELANOMA, SECTOR MELANOCYTOSIS, AND RETINAL PIGMENT EPITHELIAL MICRODETACHMENTS IN BIRT-HOGG DUBé SYNDROME

机译：Birt-HoggDubé综合征中的脉络膜黑色素瘤，扇形素细胞瘤和视网膜色素上皮微量术

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Purpose: Birt-Hogg-Dubé Syndrome (BHDS) is a rare autosomal dominant condition that can predispose patients to numerous cutaneous fibrofolliculomas and other cutaneous lesions, pulmonary cysts with spontaneous pneumothorax, and multifocal renal tumors and cancer. The genetic mutations responsible for BHDS are related to tumor suppression and the mammalian target of rapamycin (mTOR) pathway. Previous reports of the ocular findings in BHDS include eyelid fibrofolliculomas, "flecked chorioretinopathy," and one report of choroidal melanoma. We report a patient with BHDS who presented with choroidal melanoma, sector melanocytosis, and retinal pigment epithelial microdetachments. Methods: Observational case report. Results: A 38-year-old man with BHDS manifesting with facial fibrofolliculomas/ tricodiscomas and pulmonary cysts with previous pneumothorax of both lungs was noted to have a large choroidal nevus, managed with observation elsewhere. On referral 1 year later, photopsia and visual field defect were noted, and the patient was discovered to have subtle patchy sector ocular melanocytosis of the iris and choroid with choroidal melanoma and dependent subretinal fluid. The melanoma measured 14 mm in basal dimension and 6.8 mm in thickness. In addition, pinpoint retinal pigment epithelial microdetachments were observed in both eyes at the equator and confirmed on optical coherence tomography. Custom-fit plaque radiotherapy was provided for tumor control. Conclusion: The BHDS can be associated with tumors of the skin and kidney. In this case, we noted ocular melanocytosis, malignant choroidal melanoma, and bilateral pinpoint retinal pigment epithelial detachments.
机译：目的：BIRT-HOGG-DUBÉ综合征（BHDS）是一种稀有的常血剂占主导地质，可以使患者促使患者患有无数的皮肤纤维素和其他皮肤病变，具有自发性气胸和多焦肾肿瘤和癌症的肺囊肿。负责BHD的遗传突变与肿瘤抑制和哺乳动物的哺乳动物靶标有关。之前的BHD中眼镜发现的先前报道包括眼睑纤维素瘤，“Flecked ChorioreTinopathy”，以及脉络膜瘤的一份报告。我们向患有脉络膜瘤，扇形黑肾病和视网膜色素上皮微透射运动呈现的BHD的患者。方法：观察病例报告。结果：一名38岁的男子患有面部纤维素瘤/三胞菌瘤和肺囊肿的BHDS两种肺部的肺囊肿有一个大型脉络膜痣，在其他地方观察。在转诊1年后，注意到，监检和视野缺陷已被发现，并且发现患者对虹膜黑色素瘤和依赖性沉积型脉络膜和脉络膜具有微妙的斑块裂片。黑色素瘤在基底尺寸下测量为14毫米，厚度为6.8mm。此外，在赤道的两者眼中观察到精确的视点色素上皮微孔，并在光学相干断层扫描上确认。为肿瘤对照提供定制斑块放射疗法。结论：BHDS可以与皮肤和肾脏的肿瘤有关。在这种情况下，我们注意到眼睑细胞症，恶性脉络膜细胞瘤和双侧定位视网膜色素上皮脱离。

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