Case report describes skin lesions in a child, revealing a rare dermatological condition and genetic findings.
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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Potluru et al. (2026) studied this question.
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