A 3-year-old boy has several well-defined, oval, hypopigmented macules with finely ragged borders over the trunk, best visualized under Wood's lamp examination. One lesion is shaped like an ash leaf. Examination also reveals slightly roughened, peau d'orange textured skin in the lumbosacral region. Which additional finding would most strongly support the underlying diagnosis?

• A Axillary freckling and soft pedunculated cutaneous nodules
• B Linear verrucous epidermal nevus with skeletal asymmetry
• C Port-wine stain in the V1 distribution with ipsilateral leptomeningeal angioma
• D Fibrofacial angiofibromas across the nasolabial folds appearing later in childhood ✓

Explanation

Ash-leaf macules are often the earliest cutaneous sign of tuberous sclerosis complex, frequently present from infancy and highlighted by Wood's lamp, while the confetti or shagreen patch found here adds support. Facial angiofibromas (formerly adenoma sebaceum) typically appear between ages 2 and 5 and are highly characteristic. Axillary freckling with neurofibromas indicates neurofibromatosis type 1, whose café-au-lait macules are hyperpigmented rather than hypopigmented. A V1 port-wine stain suggests Sturge-Weber syndrome, and CHILD or epidermal nevus syndromes match option B.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.