Dong Shuai, Zhang Mingrui, Zhang Yuanchen, Ma Yuan, Mou Yan
Department of Dermatology, The Second Hospital of Jilin University, Changchun, Jilin Province, China.
Department of Dermatology, Women and Children's Hospital of Ningbo University, Ningbo, China.
Medicine (Baltimore). 2025 Mar 28;104(13):e41845. doi: 10.1097/MD.0000000000041845.
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.
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.
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.
Due to financial constraints, the patient refused surgical excision of the tumor and opted for conservative treatment with interferon injections.
The patient is currently under follow-up observation.
This rare case underscores the importance of monitoring genetic disorder patients for tumor risk, emphasizing timely intervention.
神经纤维瘤病是一种常染色体显性遗传病，其特征为神经系统、皮肤和骨骼的发育异常。临床上，它相对罕见，常与各种良性和恶性肿瘤相关。
然而，关于其与恶性黑色素瘤关联的报道很少，本研究将其作为一例病例报告进行了报道。以下讨论病例报告及治疗方案。
一名71岁男性，有长期存在的皮肤结节和斑块，包括左脚跟处一个不断增大且瘙痒的黑色斑块。病理检查显示结节为神经纤维瘤，足跟病变为恶性黑色素瘤。诊断为1型神经纤维瘤病合并肢端黑色素瘤。
由于经济限制，患者拒绝手术切除肿瘤，选择了注射干扰素的保守治疗。
患者目前正在接受随访观察。
这个罕见病例强调了监测遗传病患者肿瘤风险以及强调及时干预的重要性。
