A 5-Year-Old Boy with White Spots on His Trunk, Acne, and Pink Urine

Abstract

A 5-year-old boy is brought to the emergency room by his parents because of pink urine and acne eruption for 3 weeks. His parents note that he’s been eating less and frequently complains of stomach pains. His teachers report that he has been easily distracted in class and performs at a significantly lower level than his peers. He was born preterm at 36 weeks due to abnormal fetal heart tracings and has a history of several infantile seizures. His vital signs are within normal limits. Physical examination shows a palpable abdominal mass and bilateral costovertebral angle tenderness. Ultrasound reveal giant bilateral renal angiomyolipomas (AML) and small hepatic AMLs. There are 12 ellipsoid, hypopigmented macules on his trunk, lower legs, and buttocks that were better observed with Wood’s light (Fig. 2.1). KOH preparation results were negative. Examination of his face revealed multiple scattered red papules in a malar distribution. Multiple calcified subependymal nodules were noted in the brain on CT. Dermatology is consulted to examine the hypopigmented lesions. What is the most likely diagnosis for this clinical presentation and these lesions?