Supplementary Material for: A Fatal Case of Infection-Induced Neurofibromatosis Type 1 in an Adult

Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary tumor disorder caused by mutations in the NF1 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.
Case Description: A 61-year-old male presented with a two-month history of fever, abdominal pain, and bloating, which worsened over four 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 (ICU) 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.
Conclusion: 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.

背景：1型神经纤维瘤病（Neurofibromatosis type 1, NF1）是一种由NF1基因突变引起的常染色体显性遗传性肿瘤疾病。该病通常在儿童期发病，临床表现多样，而成年起病的病例相对少见。多数情况下，即使在疾病进展晚期，未经治疗的神经纤维瘤也仅带来极低的生命威胁风险。然而，严重的多系统并发症可能发生，进而导致致命结局。

病例描述：一名61岁男性患者因发热、腹痛及腹胀2个月就诊，症状在4天内加重，并伴有红斑性皮肤病变及水疱。尽管经过多次医疗咨询和对症治疗，患者病情仍恶化，出现反复发热和腹泻。急诊入院时，观察到皮肤病变进展迅速。初步考虑诊断为肠梗阻、脓毒症及固定性药疹，患者被转入重症监护病房（Intensive Care Unit, ICU）进一步治疗。随后进行了全面评估，包括胸腹部计算机断层扫描（CT）成像、微生物检测及皮肤病变活检。启动经验性抗菌治疗和支持治疗，但微生物检测结果持续阴性。多次皮肤活检的组织病理学检查证实为神经纤维瘤。患者皮肤病变进行性增大，炎症标志物持续升高，临床状况迅速恶化，最终死亡。

结论：本病例展示了成年起病NF1的一种罕见表现形式，其病程进展迅速且伴有严重的全身炎症反应。这种快速进展凸显了成年NF1患者中被低估的严重并发症及死亡风险。