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An 18-month-old boy presented with a swelling on his back, global developmental delay, and seizures. At birth, he had a tuft of hair on his left lower back which developed into an ill-defined, doughy plaque with patchy hyperpigmentation and hypopigmentation, prominent follicular openings (‘goose-like’ appearance), comedo-like plugs and cysts (figure 1A,B). The child also had a large hypopigmented patch (giant ashleaf macule; figure 1C,D) on the left anterior abdomen and back. Gradually, the patch increased in size and progressed to involve the …
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Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
Patient consent for publication Not required.
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