A child with multiple hypopigmented lesions

A 3 year old girl presented with multiple hypopigmented body lesions that had been present since birth. On examination, about 20 pale macules and patches were visible on her trunk and neck. The lesions showed limited vascularisation after rubbing, which is a characteristic feature of naevus anaemicus (fig 1). She also had about 30 café au lait macules (CALMs)—well demarcated, brown macules on the trunk and neck (0.2 cm to 1 cm in diameter) (fig 1). The patient was otherwise healthy. Fig 1 Multiple naevus anaemicus and café au lait macules on back of a 3 year old girl Molecular testing of the NF1 gene showed a heterozygous nonsense variation of c.4537C>T (p.R1513*).