Cui Lingyun, Guo Yi
Medical Center of Trauma and War Injury, State Key Laboratory of Trauma and Chemical Poisoning, Research Institute of Surgery, Daping Hospital, Army Medical University, Chongqing, China.
Case Rep Oncol. 2025 Jun 17;18(1):979-987. doi: 10.1159/000546973. eCollection 2025 Jan-Dec.
Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary tumor disorder caused by mutations in the gene. It typically manifests in childhood with diverse clinical features, while adult-onset cases are relatively uncommon. In most instances, untreated neurofibromas pose minimal life-threatening risks even in the late stages of disease progression. However, severe multisystem complications may arise, leading to fatal outcomes.
A 61-year-old male presented with a 2-month history of fever, abdominal pain, and bloating, which worsened over 4 days, accompanied by erythematous skin lesions and blisters. Despite multiple medical consultations and symptomatic treatment, his condition deteriorated, with recurrent fever and diarrhea. Upon admission to the emergency department, rapidly progressing skin lesions were noted. A preliminary diagnosis of intestinal obstruction, sepsis, and fixed drug eruption was considered, and the patient was transferred to the intensive care unit for further management. Comprehensive assessments, including thoracoabdominal CT imaging, microbiological testing, and skin lesion biopsy, were performed. Empirical antimicrobial therapy and supportive care were initiated, but microbiological tests remained negative. Histopathological examination of multiple skin biopsies confirmed neurofibromas. The patient experienced progressive enlargement of skin lesions, persistently elevated inflammatory markers, and rapid clinical deterioration, ultimately resulting in death.
This case illustrates a rare presentation of adult-onset NF1 with an aggressive disease course and a severe systemic inflammatory response. The rapid progression underscores the underestimated risk of critical complications and mortality in adult patients with NF1.
1型神经纤维瘤病（NF1）是一种由该基因突变引起的常染色体显性遗传性肿瘤疾病。它通常在儿童期出现，具有多样的临床特征，而成人发病的病例相对少见。在大多数情况下，即使在疾病进展的晚期，未经治疗的神经纤维瘤对生命构成的威胁也极小。然而，可能会出现严重的多系统并发症，导致致命后果。
一名61岁男性，有2个月的发热、腹痛和腹胀病史，在4天内病情加重，伴有皮肤红斑和水疱。尽管多次就医并接受了对症治疗，但其病情仍恶化，出现反复发热和腹泻。急诊入院时，发现皮肤病变迅速进展。考虑初步诊断为肠梗阻、败血症和固定性药疹，患者被转入重症监护病房进行进一步治疗。进行了包括胸腹部CT成像、微生物检测和皮肤病变活检在内的全面评估。开始了经验性抗菌治疗和支持治疗，但微生物检测结果仍为阴性。多次皮肤活检的组织病理学检查证实为神经纤维瘤。患者皮肤病变逐渐增大，炎症指标持续升高，临床病情迅速恶化，最终死亡。
本病例说明了成人发病的NF1的一种罕见表现，其病程侵袭性强，伴有严重的全身炎症反应。疾病的快速进展凸显了成人NF1患者严重并发症和死亡风险被低估的情况。
