Multiple endocrine neoplasia type 1 differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]

Overview

Multiple endocrine neoplasia type 1 must be differentiated from other diseases that cause hyperparathyroiodism, gastric ulcers, and neurological symptoms such as von Hippel-Lindau syndrome, tuberous sclerosis, carney complex, neurofibromatosis type 1, Li-Fraumeni syndrome, multiple endocrine neoplasia type 2, familial hyperparathyroidism, pheochromocytoma and acromegaly.

Differential Diagnosis

Disease	Definition
von Hippel-Lindau syndrome	Autosomal dominant genetic disorder causing abnormal growth of blood vessels in different parts of the body.
Tuberous sclerosis	A rare multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin
Carney complex	Autosomal dominant conditions comprising myxomas of the heart and skin, hyperpigmentation of the skin (lentiginosis), and endocrine overactivity.
Neurofibromatosis type 1	An autosomal dominant tumor disorder of central nervous system due to germline mutations in neurofibromin manifesting as scoliosis (curvature of the spine), learning disabilities, vision disorders, cutaneous lesions and epilepsy.
Li-Fraumeni syndrome	AN autosomal dominant rare disorder due to germline mutations of the TP53 tumor suppressor gene characterized by early onset of diverse amount of cancers such as sarcoma, cancers of the breast, brain and adrenal glands.
Gardner's syndrome	Familial colorectal polyposis is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon.
Multiple endocrine neoplasia type 2	An autosomal dominent disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism.
Cowden syndrome
Cushing's syndrome
Acromegaly/gigantism
Aldosteronoma
Pituitary adenoma
Hyperparathyroidism
Thyroid carcinoma
Pheochromocytoma/paraganglioma
Adrenocortical carcinoma
Adapted from Toledo SP, Lourenço DM, Toledo RA A differential diagnosis of inherited endocrine tumors and their tumor counterparts.