Visual Diagnosis: An 11-year-old Girl with Swollen Lips and Oral Bumps

1. Matthias Kochmann, MD* 2. Shipra Bansal, MBBS*† 3. Vatcharapan Umpaichitra, MD*† 4. Sheila Perez-Colon, MD*† 1. *Department of Pediatrics, SUNY Downstate Medical Center, Brooklyn, NY 2. †Division of Pediatric Endocrinology, SUNY Downstate Medical Center and Kings County Hospital Center, Brooklyn, NY An 11-year-old girl with a normal medical history is referred by her pediatrician to the pediatric endocrinology clinic due to progressive lip enlargement for the past 4 years, which led to being bullied at school. The upper and lower lips have been increasing in size symmetrically. The lip swelling is painless, persistent, and not associated with weather or food consumption. There is no history of trauma, voice change, or difficulty swallowing. She denies chest pain, palpitation, tremors, syncope, anxiety, tingling, or muscle spasms. She also denies headaches or sweating. There is no history of high blood pressure. She has regular bowel movements and denies abdominal pain or distention. There is no family history of similar symptoms or medical conditions. Her physical examination reveals a thin girl (height, 60 in \[153 cm\] \[64th percentile\]; weight, 75 lb \[34 kg\] \[17th percentile\]; BMI, 14.5 [4th percentile]; and arm span, 63 in [160 cm]) with normal vital signs. She has symmetrically enlarged lips (Fig 1). Her extremities are noticeable for long limbs and high-arched feet. She has hard, sessile, painless papules at the tip of the tongue (Fig 2). The thyroid gland is normal in size, and no nodules are palpable. No lymph nodes of the neck are appreciated. Figure 1. Lip swelling. Figure 2. Mucosal neuromas of the tongue (arrows). Blood work reveals an elevated calcitonin level of 31.2 pg/mL (9.1 pmol/L) (normal for age, <5 pg/mL [<1.5 pmol/L]). Thyroid function test results are normal, thyrotropin level is 1.27 mIU/L (reference range, 0.5-4.8 mIU/L), and free thyroxine level is 0.96 ng/dL (12.36 pmol/L) (reference range, 0.93-1.6 ng/dL [11.97-20.59 pmol/L]). Thyroid ultrasonography shows …