LAUSR

A 15-year-old woman was evaluated for generalized redness and roughness of the skin that had been present since childhood. She had congenital pulmonary valve stenosis, incomplete pyeloureteral duplication of the right kidney, and learning difficulties. Physical examination revealed multiple lentigines on the face and neck, about 100 melanocytic nevi, 4 nevus spilus-like spots, a depressed nasal bridge, and a broad philtrum (Fig. 1). Other notable findings included short stature; sparse eyebrows; follicular hyperkeratosis of the face, arms, and thighs; curly hair; and phototype IV. Family members did not present any diseases of interest and shared none of the aforementioned findings. A genetic study