先天性眼部黑色素细胞增多症1例

Thiago Sande Miguel, Fernanda Bekman Diniz Mitleg Rocha, Tais Cristina Rossett, Felipe Bekman Diniz Mitleg Rocha, Eduardo F Damasceno, Daniel Almeida da Costa
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摘要

目的:描述先天性眼部黑色素细胞增多症。病例介绍:LPC, 7岁,男性,棕色皮肤,以前没有合并症,被父母带到巴西Pedro医院Universitário Antônio眼科门诊,他们声称孩子的右眼巩膜自出生以来就存在蓝色病变。讨论:先天性眼部黑色素细胞增多症是一种罕见的病理,其特征是黑色素细胞的数量、大小和色素沉着增加。其病理生理机制尚不清楚,但据信是由于胚胎过程中黑素细胞从神经嵴向表皮的迁移发生了改变。这种情况可并发青光眼和葡萄膜黑色素瘤。在这些病例中,角膜镜检查对于评估小梁是否有色素沉着至关重要,因此在这些患者中,青光眼的研究变得至关重要,因为10%的病例会使这种情况复杂化。结论:先天性眼部黑素细胞增多症在早期发病,应重视对这些患者的监测。为了改善预后和避免比黑素细胞增多症更严重的后果,全面的检查对于早期发现和治疗非常重要。
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Congenital Ocular Melanocytosis: Case Report
Aims: To describe Congenital Ocular Melanocytosis. Presentation of Case: LPC, 7 years old, male, brown, with no previous comorbidities, was taken to the ophthalmology outpatient clinic of the Hospital Universitário Antônio Pedro, Brazil by parents who alleged the presence of bluish-looking lesions in the sclera of the child's right eye since birth. Discussion: Congenital Ocular Melanocytosis is a rare pathology characterized by an increase in the number, size and pigmentation of melanocytes. Its pathophysiological picture is unknown, but it is believed to be due to an alteration in the migration of melanocytes from the neural crest to the epidermis during the embryonic process. This condition can be complicated by glaucoma and uveal melanoma. Gonioscopy is essential in these cases to assess whether there is pigmentation of the trabeculae, so that the propaedeutics of investigation of glaucoma becomes essential in these patients, since 10% of cases can complicate this condition. Conclusions: Congenital Ocular Melanocytosis early in life and the importance of monitoring these patients should be emphasized. Comprehensive tests are important for early detection and treatment, in order to improve the prognosis and avoid more severe consequences than what can happen from melanocytosis.
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