■皮肤平滑肌瘤,平滑肌纤维良性肿瘤,约占所有平滑肌瘤的5%。它们表现出不同的遗传模式,并可能与系统性恶性肿瘤有关。胃肠道间质瘤(GIST),来自Cajal的间质细胞,是胃肠道中最常见的间质瘤。尽管流行,同时发生的皮肤平滑肌瘤和GIST是罕见的,有必要探索他们的潜在关系。
方法:一名25岁男性,无明显病史,胸部有多个疼痛性红斑结节,上背部,和手臂。组织病理学分析诊断为多发性皮肤毛囊肌瘤病。尽管有手术干预的建议,患者选择了药物治疗,硝苯地平明显缓解了疼痛。稍后,腹部症状的发展导致发现多个胃部病变,诊断为良性梭形细胞肿瘤,需要部分胃切除术。
■皮肤平滑肌瘤的鉴别诊断包括各种软组织肿瘤,需要组织病理学确认。影响对细胞能量产生和肿瘤抑制至关重要的蛋白质的基因突变是这些疾病的基础。治疗选择包括药物治疗和手术切除。在该患者中发现GIST与罕见的文献报道一致,强调需要对平滑肌瘤病患者的系统性恶性肿瘤进行警惕评估。
结论:该病例强调了皮肤平滑肌瘤可能提示较深的恶性肿瘤,如GIST,强调诊断和治疗中跨学科合作的重要性。它强调了良性皮肤病和内部恶性肿瘤的相互联系,提倡对平滑肌瘤病患者进行综合评估。
方法:本病例报告严格遵循SCARE2023指南:更新共识外科病例报告指南(Sohrabi等人。,2023年[1])。这些指南确保手术病例报告的高质量报告。报告详细介绍了评估情况,诊断,并对与胃肠道间质瘤相关的多发性皮肤平滑肌瘤患者的文献进行了全面回顾。通过采用多学科方法,本报告实现了对案件的全面和标准化介绍,作为提高对这种罕见情况的认识的额外工具。
UNASSIGNED: Cutaneous leiomyomas, benign tumors from smooth muscle fibers, constitute about 5 % of all leiomyomas. They exhibit diverse inheritance patterns and can be linked to systemic malignancies. Gastrointestinal stromal tumors (GISTs), arising from the interstitial cells of Cajal, are the most common mesenchymal tumors in the gastrointestinal tract. Despite their prevalence, simultaneous occurrences of cutaneous leiomyomas and GISTs are rare, necessitating exploration of their potential relationship.
METHODS: A 25-year-old male with no significant medical history presented with multiple painful erythematous nodules on his chest, upper back, and arms. Histopathological analysis diagnosed these as multiple cutaneous piloleiomyomatosis. Despite recommendations for surgical intervention, the patient chose medical management and experienced significant pain relief with nifedipine. Later, the development of abdominal symptoms led to the discovery of multiple gastric lesions, diagnosed as benign spindle cell neoplasms, necessitating partial gastrectomy.
UNASSIGNED: The differential diagnosis of cutaneous leiomyomas includes various soft tissue tumors, requiring histopathological confirmation. Genetic mutations affecting proteins critical to cellular energy production and tumor suppression underlie these conditions. Treatment options include pharmacological management and surgical excision. The discovery of GISTs in this patient aligns with rare literature reports, emphasizing the need for vigilant evaluation of systemic malignancies in patients with leiomyomatosis.
CONCLUSIONS: This case highlights the potential of cutaneous leiomyomas to indicate deeper malignancies like GISTs, stressing the importance of interdisciplinary collaboration in diagnosis and treatment. It underscores the interconnectedness of benign dermatological conditions and internal malignancies, advocating for comprehensive evaluation in patients with leiomyomatosis.
METHODS: This case report meticulously follows the SCARE 2023 guidelines: updating consensus Surgical Case Report guidelines (Sohrabi et al., 2023 [1]). These guidelines ensure high-quality reporting in surgical case reports. The report details the evaluation, diagnosis, and a comprehensive review of the literature pertaining to a patient with multiple leiomyoma cutis associated with gastrointestinal stromal tumors. By employing a multidisciplinary approach, this report achieves a thorough and standardized presentation of the case, serving as an additional tool for raising awareness regarding such rare conditions.