Overview
What is multiple endocrine neoplasia type 1 (MEN1)?
What is the pathophysiology of multiple endocrine neoplasia type 1 (MEN1)
What is the prevalence of multiple endocrine neoplasia type 1 (MEN1)?
Which patient groups have the highest prevalence of multiple endocrine neoplasia type 1 (MEN1)?
What is the morbidity and mortality associated with multiple endocrine neoplasia type 1 (MEN1)?
Presentation
Which physical findings are characteristic of multiple endocrine neoplasia type 1 (MEN1)?
DDX
Workup
What is the role of lab tests in the diagnosis of multiple endocrine neoplasia type 1 (MEN1)?
What is the role of biopsy in the workup of multiple endocrine neoplasia type 1 (MEN1)?
Which histologic findings are characteristic of multiple endocrine neoplasia type 1 (MEN1)?
What is the role of imaging studies in the workup of multiple endocrine neoplasia type 1 (MEN1)?
Treatment
How is multiple endocrine neoplasia type 1 (MEN1) treated?
What is the role of surgery in the treatment of multiple endocrine neoplasia type 1 (MEN1)?
Guidelines
Follow-up
What are the possible complications of multiple endocrine neoplasia type 1 (MEN1) endocrine tumors?
What are the possible complications of multiple endocrine neoplasia type 1 (MEN1) cutaneous tumors?
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A 27-year-old man has telangiectatic, red papules on the nose, the nasolabial fold, and the upper lip. Histologic examination of one of these lesions confirmed the clinical diagnosis of angiofibroma. In addition to multiple facial angiofibromas, this patient has multiple collagenomas and gingival papules, as well as hyperparathyroidism and a positive family history for multiple endocrine neoplasia type 1.
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The shoulder of a 65-year-old man shows multiple firm, skin-colored to slightly hypopigmented papules. Biopsy results of the largest lesion revealed collagenoma. Endocrinologic features of multiple endocrine neoplasia type 1 in this patient are hyperparathyroidism and Zollinger-Ellison syndrome. Note that the photograph was taken with side lighting to accentuate the lesions.
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A close-up view of a large collagenoma on the shoulder of a 65-year-old man shows multiple firm, skin-colored to slightly hypopigmented papules. Endocrinologic features of multiple endocrine neoplasia type 1 in this patient are hyperparathyroidism and Zollinger-Ellison syndrome.
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A 39-year-old woman with multiple endocrine neoplasia type 1 has a soft nodule on the forehead that is consistent with lipoma. Lipomas in patients with multiple endocrine neoplasia type 1 can be single or multiple, and they are sometimes large.
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On the attached gingiva of a 27-year-old man with multiple endocrine neoplasia type 1, a few small, whitish papules are present. Gingival papules are a rare and subtle finding in multiple endocrine neoplasia type 1. In addition to multiple facial angiofibromas, this patient has multiple collagenomas, hyperparathyroidism, and a positive family history for multiple endocrine neoplasia type 1.
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Light microscopic evaluation of a section of an angiofibroma shows prominent vessels and concentric rings of collagen around vessels and adnexal structures (hematoxylin and eosin, original magnification X100). These findings are indistinguishable from those observed in angiofibromas in patients with tuberous sclerosis.
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Histologic examination of a collagenoma reveals dense, thick collagen in the reticular dermis (hematoxylin and eosin, original magnification X40). An elastic stain showed reduced elastic fibers (not shown). Biopsy samples of collagenomas can be mistaken for healthy skin unless an elliptical excision containing surrounding healthy skin is obtained for comparison. The contrast with healthy skin accentuates the thickened dermis and collagen alterations seen in collagenomas.