Sproetjes, café-au-laitvlekken en cutane noduli

A 32-year-old man presented with axillary and inguinal freckling, 13 café-au-lait macules (> 15 mm), and multiple neurofibromas, consistent with the clinical diagnosis Neurofibromatosis type 1 (NF1). DNA analysis confirmed this diagnosis by identifying a pathogenic NF1 variant, enabling monitoring for complications, genetic counselling and screening for family members.

Conflict of interest and financial support: none declared.