Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1
Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1
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DOI：
10.1001/archderm.133.7.853
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发表时间：
1997-07-01
影响因子：
--
通讯作者：
Turner, M
中科院分区：
文献类型：
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作者：
Darling, TN;Skarulis, MC;Turner, M
目的：探讨多发性内分泌肿瘤1型（MEN1）患者的皮肤表现。设计：为期3年的调查。背景：美国国立卫生研究院，位于马里兰州贝塞斯达的一家三级转诊研究医院。患者：连续取样32例先前诊断为MEN1的患者，未预先选择是否存在皮肤病变，检查皮肤异常。患者及其家属均未被诊断为结节性硬化症。干预措施：通过临床表现、拍照和组织学确认病变。主要观察指标：确定MEN1患者皮肤病变的发生频率。结果：多发性面部血管纤维瘤28例（88%），5例及以上16例（50%）。血管纤维瘤在临床和组织学上与结节性硬化症相同。胶原瘤23例（72%）。此外，还观察到12例（38%）的咖啡样斑点，11例（34%）的脂肪瘤，2例（6%）的纸屑样低色素斑点，2例（6%）的多发牙龈丘疹。结论：多发性血管纤维瘤、胶原瘤、脂肪瘤、五彩纸屑样低色素斑、多发牙龈丘疹是MEN1的皮肤表现，应在MEN1患者的家庭成员和甲状旁腺功能亢进或其他MEN1相关肿瘤患者中寻找。多发性血管纤维瘤不再被认为是结节性硬化症的典型症状。在没有结节性硬化症的个体中观察血管纤维瘤需要进一步的MEN1生化检测。
Objective: To evaluate patients with multiple endocrine neoplasia type 1 (MEN1) for cutaneous manifestations.Design: Survey during a 3-year period.Setting: The National Institutes of Health, a tertiary referral research hospital in Bethesda, Md.Patients: A consecutive sample of 32 individuals with previously diagnosed MEN1 who were not preselected for the presence of skin lesions were examined for cutaneous abnormalities. None of the patients or family members were diagnosed as having tuberous sclerosis.Interventions: lesions were identified by clinical appearance, photographed, and confirmed histologically.Main Outcome Measure: To determine the frequency of skin lesions in patients with MEN1.Results: Multiple facial angiofibromas were observed in 28 (88%) of the patients with MEN1, with 16 patients (50%) having 5 or more. Angiofibromas were clinically and histologically identical to those in individuals with tuberous sclerosis. Collagenomas were observed in 23 patients (72%). Also observed were cafe au lait macules in 12 patients (38%), lipomas in 11 patients (34%), confetti-like hypopigmented macules in 2 patients (6%), and multiple gingival papules in 2 patients (6%).Conclusions: Multiple angiofibromas, collagenomas, lipomas, confetti-like hypopigmented macules, and multiple gingival papules are cutaneous manifestations of MEN1 and should be looked for in both family members of patients with MEN1 and individuals with hyperparathyroidism or other MEN1-associated tumors. Multiple angiofibromas can no longer be considered pathognomonic for tuberous sclerosis. The observation of angiofibromas in individuals without tuberous sclerosis necessitates further biochemical testing for MEN1.