Cutaneous Tumors in Patients with Multiple Endocrine Neoplasm Type 1 (MEN1) and Gastrinomas: Prospective Study of Frequency and Development of Criteria with High Sensitivity and Specificity for MEN1

Abstract

Multiple endocrine neoplasm type 1 (MEN1) is associated with parathyroid, pancreatic, and pituitary tumors. Although most patients present with hyperparathyroidism, the diagnosis can be difficult, because a significant proportion present with other endocrinopathies or may lack a family history, and other MEN1 manifestations may be mild. Recently, multiple cutaneous lesions (angiofibromas and collagenomas) were reported to be frequent in MEN1 patients, and it was proposed that their discovery suggested the diagnosis of MEN1. The purpose of this study was to prospectively assess the frequency and sensitivity/specificity of various cutaneous criteria for MEN1 in 110 consecutive patients with gastrinomas with or without MEN1. All patients had hormonal and functional studies to determine MEN1 status (48 with MEN1, 62 without MEN1), dermatological evaluation, and tumor imaging studies. Angiofibromas and collagenomas were more frequent in MEN1 patients (64% vs. 8% and 62% vs. 5%; P < 0.00001) and were multiple in 77-81% of the MEN1 patients. Lipomas occurred in 17%. The presence of these skin lesions did not correlate with age, disease duration, or other MEN1 features. Angiofibromas or collagenomas (single or multiple) had 50-65% sensitivity for MEN1 and 92-100% specificity. The combination criterion of multiple angiofibromas (more than three) and any collagenomas had the highest sensitivity (75%) and specificity (95%). This criterion has greater sensitivity than pituitary or adrenal disease and is comparable to hyperparathyroidism in some studies of patients with MEN1 with gastrinoma. This criterion should have sufficient sensitivity/specificity to be clinically useful.

Facial Angiofibroma as an Initial Manifestation in Multiple Endocrine Neoplasia Type 1

“…1B-D). The frequency of angiofibroma among Japanese patients is also lower than that of Caucasian patients (1)(2)(3) …”

Multiple endocrine neoplasia type 1 (MEN1)

“…Up to 88% of patients have facial angiofibromas (50% have five or more), which are generally rare except in conjunction with tuberous sclerosis. [45][46][47][48] These red papules are frequently located around the nose and cheeks or on the lips. Collagenomas, found in areas of friction such as the feet, are noted in up to 72% of MEN1 patients, 45,46 while lipomas are seen in 17-34%.…”

“…[45][46][47][48] These red papules are frequently located around the nose and cheeks or on the lips. Collagenomas, found in areas of friction such as the feet, are noted in up to 72% of MEN1 patients, 45,46 while lipomas are seen in 17-34%. 45,46,48 The presence of three or more facial angiofibromas and one or more collagenomas is 75% sensitive and 95% specific for the diagnosis of MEN1 and compares favorably to other diagnostic criteria, including the presence of pituitary tumors in patients with known pancreatic tumors and the presence of adrenal tumors in patients with a major criterion tumor (parathyroid, pituitary, pancreas).…”

“…Collagenomas, found in areas of friction such as the feet, are noted in up to 72% of MEN1 patients, 45,46 while lipomas are seen in 17-34%. 45,46,48 The presence of three or more facial angiofibromas and one or more collagenomas is 75% sensitive and 95% specific for the diagnosis of MEN1 and compares favorably to other diagnostic criteria, including the presence of pituitary tumors in patients with known pancreatic tumors and the presence of adrenal tumors in patients with a major criterion tumor (parathyroid, pituitary, pancreas). 46 Lipomas are usually solitary in the context of MEN1 A review of the management of MEN1 and, unlike angiofibromas and collagenomas, are frequently encountered in the general population (up to 16%).…”

THORACIC SURGERY Results of the surgical treatment of patients suffering from bronchopulmonary carcinoid tumors in the Department of Thoracic Surgery in Bystra in the period 1990-2011

“…Coexisting endocrine (bronchopulmonary, thymic and gastric carcinoids, tumors of adrenal and thyroid glands) and non-endocrine diseases (myoma, lipoma, CNS tumors and various skin lesions) are being diagnosed with increasing frequency [16,17]. In the analyzed material, bronchopulmonary carcinoid tumors occurred in 18 patients with diseases of the thyroid gland (non-toxic nodular goiter, Hashimoto's struma, hyper-and hypothyroidism, follicular carcinoma), in 3 patients with CNS tumors (meningioma of the brain and glioma of the cerebellum) and in one female patient with hyperparathyroidism and pituitary prolactinoma treated conservatively with quinagolide (Norprolac -Novartis Pharma AG).…”