Service de Dermatologie, Hôpital Larrey, CHU de Toulouse, Toulouse, France.
Service de Génétique et Biologie Moléculaires, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France.
Orphanet J Rare Dis. 2019 Aug 22;14(1):207. doi: 10.1186/s13023-019-1176-4.
Segmental schwannomatosis is characterized by multiple schwannomas affecting one-limb or less than 5 contiguous segments of spine. Its characteristics are not well described in the literature. Our objective was to better describe the demographic and clinical characteristics of this condition.
This was a retrospective, bi-center study conducted in two French expert centers for neurofibromatosis and schwannomatosis. The clinical, radiographic, pathological and molecular aspects were extracted from patients' clinical records.
Twelve patients with segmental schwannomatosis were identified. Eight were female and 4 were male. The median age at initial symptom was 29 years (range: 6-60 years) and the median age at diagnosis was 34.5 years (range: 13-65 years). Pain was the initial symptom for the majority of patients (7 of 12). The number of tumors was variable with six patients having more than 10 tumors. Peripheral distribution was seen in all patients. Quality of life could be impaired (median Dermatology Life Quality Index score was 4.5 (range: 2-13). The median duration of follow up was 3 years (range: 1-26). Chronic pain was the main complication (9 of 12 patients). Surgical intervention to control chronic pain was performed for 9 patients of whom 5 experienced recurrence of tumors. Molecular investigations revealed heterozygous LZTR1 variants in 3 of 9 patients.
Segmental schwannomatosis is a rare condition that may start early in life and often remains undiagnosed for many years. Pain is the main symptom and consequently could impair the quality of life. Surgery seems to be effective, but recurrences are frequent. Some patients carried heterozygous LZTR1 variants. Further studies are needed to better understand this rare condition.
节段性 schwannomatosis 的特征是多发性 schwannoma 影响一条肢体或少于 5 个连续的脊柱节段。其特征在文献中描述得并不完善。我们的目的是更好地描述这种疾病的人口统计学和临床特征。
这是一项在法国两个神经纤维瘤病和 schwannomatosis 专家中心进行的回顾性、双中心研究。从患者的临床记录中提取了临床、放射学、病理学和分子方面的信息。
确定了 12 例节段性 schwannomatosis 患者。8 例为女性，4 例为男性。首发症状的中位年龄为 29 岁（范围：6-60 岁），诊断时的中位年龄为 34.5 岁（范围：13-65 岁）。疼痛是大多数患者的首发症状（12 例中有 7 例）。肿瘤数量不一，6 例患者有超过 10 个肿瘤。所有患者均有外周分布。生活质量可能受损（中位皮肤病生活质量指数评分 4.5（范围：2-13）。中位随访时间为 3 年（范围：1-26）。慢性疼痛是主要并发症（12 例中有 9 例）。为 9 例患者进行了手术干预以控制慢性疼痛，其中 5 例患者肿瘤复发。分子研究显示 3 例 9 例患者存在 LZTR1 杂合变异。
节段性 schwannomatosis 是一种罕见的疾病，可能在生命早期开始，并且常常多年未被诊断。疼痛是主要症状，因此可能会影响生活质量。手术似乎有效，但复发频繁。一些患者携带 LZTR1 杂合变异。需要进一步研究以更好地了解这种罕见疾病。
