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 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	An 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	An 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	A rare autosomal dominant disorder due to germline mutation of PTEN, a tumor suppressor gene characterized by multiple tumor-like growths called hamartomas.
Cushing's syndrome	A disorder due to prolonged exposure to cortisol characterized by hypertension, abdominal obesity but with thin arms and legs, reddish stretch marks, a round red face, a fat lump between the shoulders, weak muscles, weak bones, acne, and fragile skin that heals poorly.
Acromegaly/gigantism	A rare syndrome due to excess growth hormone characterized by enlargement of the hands, feet, nose, lips and ears, and a general thickening of the skin, hypertrichosis, hyperpigmentation and hyperhidrosis and carpal tunnel syndrome.
Aldosteronoma	A disorder due to excess production of the aldosterone by the adrenal glands characterized by hypertension, muscular weakness, muscle spasms, tingling sensations, excessive urination.
Pituitary adenoma	A tumor in pituitary gland characterized by visual field defects, classically bitemporal hemianopsia, increased intracranial pressure, migraine and lateral rectus palsy.
Hyperparathyroidism	A disorder due to excess production of parathyroid hormone characterized by kidney stones, hypercalcemia, constipation and peptic ulcers, as well as depression.
Thyroid carcinoma	A tumor of the thyroid gland characterized by signs and symptoms of hyperthryroidism or hypothyroidism.
Pheochromocytoma/paraganglioma	A neuroendocrine tumor of the medulla of the adrenal glands characterized by episodic hypertension, palpitations, anxiety, diaphoresis and weight loss.
Adrenocortical carcinoma	An aggressive cancer originating in the cortex(steroid hormone-producing tissue) of the adrenal gland characterized by virilization, conn syndrome, weight gain, muscle wasting, purple lines on the abdomen, a fatty "buffalo hump" on the neck, a "moonlike" face, and thinning and fragile skin.
Adapted from Toledo SP, Lourenço DM, Toledo RA A differential diagnosis of inherited endocrine tumors and their tumor counterparts.