Darling T N, Skarulis M C, Steinberg S M, Marx S J, Spiegel A M, Turner M
Dermatology Branch, National Cancer Institute, National Institutes of Health Bethesda, MD, USA.
Arch Dermatol. 1997 Jul;133(7):853-7.
To evaluate patients with multiple endocrine neoplasia type 1 (MEN 1) for cutaneous manifestations.
Survey during a 3-year period.
The National Institutes of Health, a tertiary referral research hospital in Bethesda Md.
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.
Lesions were identified by clinical appearance, photographed, and confirmed histologically.
To determine the frequency of skin lesions in patients with MEN1.
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%).
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 of 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.
评估1型多发性内分泌腺瘤病（MEN 1）患者的皮肤表现。
为期3年的调查。
位于马里兰州贝塞斯达的国立卫生研究院，一家三级转诊研究医院。
连续抽取32例先前诊断为MEN1的患者样本，这些患者未因皮肤病变而预先筛选，检查其皮肤异常情况。患者及其家庭成员均未被诊断为患有结节性硬化症。
通过临床表现识别病变，拍照，并进行组织学确认。
确定MEN1患者皮肤病变的发生率。
在32例MEN1患者中，28例（88%）观察到多发性面部血管纤维瘤，其中16例（50%）有5个或更多。血管纤维瘤在临床和组织学上与结节性硬化症患者的相同。23例患者（72%）观察到胶原瘤。还观察到12例患者（38%）有咖啡斑，11例患者（34%）有脂肪瘤，2例患者（6%）有五彩纸屑样色素减退斑，2例患者（6%）有多个牙龈丘疹。
多发性血管纤维瘤、胶原瘤、脂肪瘤、五彩纸屑样色素减退斑和多个牙龈丘疹是MEN1的皮肤表现，在MEN1患者的家庭成员以及患有其他MEN1相关肿瘤的甲状旁腺功能亢进患者中均应予以关注。多发性血管纤维瘤不能再被视为结节性硬化症的特征性表现。在无结节性硬化症的个体中观察到血管纤维瘤需要对MEN1进行进一步的生化检测。
