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Updated: Jan 23, 2026

A New Hybrid Quantitative Evaluation Model for Axillary Junctional Hemorrhage in Swine
Published on: December 6, 2024
[A man with axillary and inguinal freckling, café-au-lait spots, and cutaneous nodules]
Minke J Peeters1, Marjoleine F Broekema1, Inge B Mathijssen1,2
1Amsterdam UMC, afd. Humane Genetica, Amsterdam.
Abstract:
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.
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