4th March 2024

A 13-year-old girl is seen in the genetics clinic. Her mother had noticed the development of 9 hyperpigmented macules

A 13-year-old girl is seen in the genetics clinic. Her mother had noticed the development of 9 hyperpigmented macules with axillary freckling on her arms and trunk. These have persisted throughout her childhood. Her mother had brought her to her GP when she was six years old due to a mass within her axillae, which had grown in size throughout her childhood. This was recently excised due to pain, and histology revealed a mix of Schwann cells, fibroblasts and perineural cells.

What is the likely underlying diagnosis?

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