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◆ Clinical and Experimental Dermatology2026-07-31· Organomegaly

Paediatric and Genetics

Aparna Potluru, Gordon Hale

原始摘要(英文原文)· Original abstract
A 2-year-old girl presented with progressive red- to yellow-brown papules and nodules from 8 months of age, affecting the trunk, flexures, limbs, and periocular area. She was otherwise well, with normal development and no organomegaly or systemic symptoms. Skin biopsy showed dermal foamy histiocytes with Touton giant cells. Whole-body imaging revealed no visceral involvement, aside from an isolated indeterminate femoral lesion. Ophthalmological and haematological assessments were normal, and genetic testing, including a RASopathy panel, was negative. She had a single café-au-lait macule without other features or relevant family history.
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