Neurofibromatosis type 1 accompanied by acromelanoma: A case report.

IF 1.3 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Medicine Pub Date : 2025-03-28 DOI:10.1097/MD.0000000000041845

Shuai Dong, Mingrui Zhang, Yuanchen Zhang, Yuan Ma, Yan Mou

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引用次数: 0

Abstract

Rationale: Neurofibromatosis is an autosomal dominant genetic disorder characterized by developmental abnormalities of the nervous system, skin, and bones. Clinically, it is relatively rare and is often associated with various benign and malignant tumors.

Patient concerns: However, reports of its association with malignant melanoma are scarce, and has been reported as a case report in this study. Case reports and treatment options are discussed below.

Diagnoses: A 71-year-old male presented with long-standing skin nodules and plaques including a growing and itchy black patch on his left heel. Pathological examination revealed neurofibroma in the nodules and malignant melanoma in the heel lesion. The diagnosis was neurofibromatosis type l with acromelanoma.

Interventions: Due to financial constraints, the patient refused surgical excision of the tumor and opted for conservative treatment with interferon injections.

Outcomes: The patient is currently under follow-up observation.

Lessons: This rare case underscores the importance of monitoring genetic disorder patients for tumor risk, emphasizing timely intervention.

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理论依据：神经纤维瘤病是一种常染色体显性遗传疾病，以神经系统、皮肤和骨骼发育异常为特征。在临床上，该病相对罕见，通常与各种良性和恶性肿瘤相关：然而，有关该病与恶性黑色素瘤相关的报道很少，本研究将其作为病例报告。下面将讨论病例报告和治疗方案：一名 71 岁的男性患者出现了长期的皮肤结节和斑块，包括左脚脚后跟上一块不断增大且瘙痒的黑色斑块。病理检查显示，结节处为神经纤维瘤，脚后跟病变处为恶性黑色素瘤。诊断结果为神经纤维瘤病 l 型伴肢端黑色素瘤：由于经济拮据，患者拒绝手术切除肿瘤，选择注射干扰素进行保守治疗：目前患者正在接受后续观察：这一罕见病例强调了监测遗传性疾病患者肿瘤风险的重要性，并强调了及时干预的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Medicine 医学-医学：内科

CiteScore

2.80

自引率

0.00%

发文量

4342

审稿时长

>12 weeks

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