A 9-year-old boy is brought to the office for evaluation of oral lesions. He had been living in a children's home until he was adopted 3 months ago. He believes the tongue nodules have always been present. They do not hurt or itch. He has no taste disturbance and eats a variety of solids and liquids. He is not bothered by drinking hot or cold liquids. Vital signs are stable. He is tall for his age with long arms and fingers. Tongue examination is shown below. On palpation, the tongue nodules feel discrete, firm, and rubbery. They are not tender. This patient is at greatest risk from which of the following conditions?

Question

A 9-year-old boy is brought to the office for evaluation of oral lesions.  He had been living in a children's home until he was adopted 3 months ago.  He believes the tongue nodules have always been present.  They do not hurt or itch.  He has no taste disturbance and eats a variety of solids and liquids.  He is not bothered by drinking hot or cold liquids.  Vital signs are stable.  He is tall for his age with long arms and fingers.  Tongue examination is shown below.  On palpation, the tongue nodules feel discrete, firm, and rubbery.  They are not tender.  This patient is at greatest risk from which of the following conditions?

Quizplus · Accepted Answer

11ec25c8_d662_f880_bc81_7f572401ea19_MD0003_00 This patient with an unknown family history, marfanoid habitus (eg, long arms and fingers), and mucosal neuromas (eg, painless, rubbery tongue nodules) likely has type 2B multiple endocrine neoplasia (MEN2B). MEN2B is caused by a germline RET mutation and is often identified via family history or genetic screening. Family members of a patient with a known germline RET mutation should undergo genetic testing. The greatest threat to this patient's life is from medullary thyroid cancer (MTC). MTC associated with MEN2B tends to occur at a very young age. Due to this risk, in patients with known MEN2B, prophylactic thyroidectomy is often performed in infancy (eg, age <1 year). Half of MEN2B patients also have pheochromocytoma, which needs to be evaluated (ie, with plasma-fractionated metanephrines). (Choice A) Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) leads to diffuse arteriovenous malformations, sometimes with life-threatening complications (eg, massive hemoptysis, gastrointestinal bleeding), and often presents with mucosal telangiectasias. However, these typically appear as ruby-colored papules that blanch with pressure rather than firm, rubbery neuromas. ruby-colored papules that blanch with pressure (Choice B) Peutz-Jeghers syndrome is characterized by gastrointestinal tract hamartomatous polyposis. Although patients develop oral lesions, these are typically perioral mucocutaneous pigmented macules rather than mucosal neuromas. perioral mucocutaneous pigmented macules (Choice C) MEN type 1 is characterized by primary hyperparathyroidism, pituitary tumors, and gastrointestinal/pancreatic endocrine tumors (eg, gastrinomas). It is not associated with marfanoid habitus or mucosal neuromas. (Choice D) Tuberous sclerosis is an inherited neurocutaneous syndrome that often includes seizures that gradually worsen over time. Although it can present with benign tumors, these are typically skin tumors (eg, "ash-leaf spots", facial angiofibromas, shagreen patches) rather than mucosal neuromas. "ash-leaf spots" facial angiofibromas Educational objective: Type 2B multiple endocrine neoplasia (MEN2B) is characterized by medullary thyroid cancer (MTC), pheochromocytoma, marfanoid habitus, and mucosal neuromas. MTC associated with MEN2B is often very aggressive, and thyroidectomy is often recommended in infancy. References: Genetic and clinical features of multiple endocrine neoplasia types 1 and 2. (http://www.ncbi.nlm.nih.gov/pubmed/23209466) Multiple endocrine neoplasia type 2B: more than an endocrine disorder. (http://www.ncbi.nlm.nih.gov/pubmed/7491537) Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study. (http://www.ncbi.nlm.nih.gov/pubmed/30660595)

A 9-Year-Old Boy Is Brought to the Office for Evaluation