Darie H, Veran Y, Le Guyadec T, Gros P, Millet P
Service de Dermatologie, Hôpital d'Instruction des Armées Bégin, Saint-Mandé.
Ann Dermatol Venereol. 1998 Aug;125(8):509-11.
Segmental neurofibromatosis (NF V) is ten times less frequent than Recklinghausen disease. Would the risk of visceral involvement in this uncommon form of neurofibromatosis warrant systematic imaging procedures?
A 31-year-old man consulted for a voluminous plexiform neurofibroma in the left lumbar area. More ventrally, on the left side, there was also a café au lait spot. There were no Lisch nodules. The chest and abdominopelvic computed tomography and magnetic resonance imaging showed intramuscular tumoral extension, two neurofibromas in the 9th intercostal space and a voluminous 5-cm tumor situated in the left adrenal area. After resection pathology examination of the surgical specimen confirmed the diagnosis of ganglioneuroma.
In this patient, all the neurofibromas and the café of lait spot developed in the territories of the left T10 and adjacent spinal roots. This was also true for the ganglioneuroma which developed on the deep sympathetic ramus to the adrenal gland which originates essentially from roots T8 to T11. This would place this case in the second subgroup of NF V in Roth's classification. Only six other cases have been reported in the literature. Such deep localizations are very likely to be underestimated, raising the problem of their detection and the correct protocol to follow asymptomatic forms, especially to detect disease progression to malignant degeneration which has a poor prognosis. Patients with a NF V should receive genetic counselling with a search for a family history, other signs of neurofibromatosis and Lisch nodules. In young patients, the risk of deep asymptomatic spread underlines the importance of regional computed tomographic or magnetic resonance explorations.
节段性神经纤维瘤病（NF V）的发病率比冯雷克林霍增氏病低十倍。这种罕见形式的神经纤维瘤病发生内脏受累的风险是否需要进行系统的影像学检查？
一名31岁男性因左侧腰部巨大丛状神经纤维瘤前来就诊。在更靠前的左侧，还有一个咖啡牛奶斑。没有Lisch结节。胸部及腹盆腔计算机断层扫描和磁共振成像显示肿瘤向肌肉内延伸，在第9肋间间隙有两个神经纤维瘤，左侧肾上腺区有一个5厘米的巨大肿瘤。手术标本切除后的病理检查证实为神经节瘤。
在该患者中，所有神经纤维瘤和咖啡牛奶斑均出现在左侧T10及相邻脊神经根的分布区域。起源于T8至T11脊神经根的肾上腺深部交感神经支上发生的神经节瘤也是如此。这将使该病例属于Roth分类中NF V的第二个亚组。文献中仅报道了另外6例。这种深部定位很可能被低估，这就引发了其检测问题以及针对无症状形式应遵循的正确检查方案问题，尤其是要检测疾病进展至预后不良的恶性变情况。NF V患者应接受遗传咨询，询问家族病史、神经纤维瘤病的其他体征以及Lisch结节情况。在年轻患者中，深部无症状扩散的风险凸显了区域计算机断层扫描或磁共振检查的重要性。
