A 2-YEAR-OLD CHILD had a 4-month history of rectal bleeding with the passage of stool. His mother also had noted an asymptomatic, enlarging mass on his anterior abdominal wall for the same period of time. His medical history was notable for the transrectal removal of an intestinal polyp when the child was 15 months old. A large head size had been noted since birth. His development was delayed with motor and cognitive skills performance at 14 to 16 months at age 24 months.
Prominent physical findings included macrocephaly, with a head circumference of 56 cm (6 SD higher than the mean for age), occipital prominence, and 3 firm, subcutaneous, bony projections from the skull. Examination of the skin revealed a 3-cm café au lait patch on the left leg, multiple pigmented macules on the penis (Figure 1), and a verrucous plaque, 5 × 3 cm, on the posterior thigh above the popliteal fossa. A 2.5 × 2.5-cm soft, nontender mass was palpable in the anterior abdominal wall tissues (Figure 2). The joints demonstrated hyperextensibility. Examination of the child's mother revealed no physical abnormalities. The father was reportedly healthy. Findings from a biopsy of the soft tissue abdominal wall mass were interpreted as a lipoma.
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