An 18-month-old, otherwise healthy girl presents to the pediatric dermatology clinic for the evaluation of numerous hyperpigmented spots on her skin. The spots started on her middle back around age 2 months and gradually spread to involve most of her trunk, neck, and proximal extremities. She was previously referred by her primary care physician to the genetics clinic due to concern for multiple café-au-lait macules (CALMs). To rule out neurofibromatosis type 1 (NF1), Legius syndrome, and related conditions, an 18-gene panel was run for NF1, SPRED1, and other RASopathy-associated genes. Results of the genetic testing were normal.

The patient has been growing well and meeting all appropriate developmental milestones. Review of systems is negative for fever, flushing, and syncope but positive for several recent episodes of diarrhea. On physical examination there are numerous well-circumscribed, hyperpigmented macules, papules, and patches present diffusely across the back, abdomen, neck, and extremities of the...

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