Sproetjes, café-au-laitvlekken en cutane noduli

Minke J. Peeters; Marjoleine F. Broekema; Inge B. Mathijssen

Sproetjes, café-au-laitvlekken en cutane noduli

Translated title of the contribution: A man with axillary and inguinal freckling, café-au-lait spots, and cutaneous nodules

afd. Humane Genetica

Research output: Contribution to journal › Article › Professional

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.

Translated title of the contribution	A man with axillary and inguinal freckling, café-au-lait spots, and cutaneous nodules
Original language	Dutch
Journal	Nederlands tijdschrift voor geneeskunde
Volume	169
Publication status	Published - 14 Jan 2026

Cite this

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title = "Sproetjes, caf{\'e}-au-laitvlekken en cutane noduli",

abstract = "A 32-year-old man presented with axillary and inguinal freckling, 13 caf{\'e}-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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year = "2026",

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AU - Peeters, Minke J.

AU - Broekema, Marjoleine F.

AU - Mathijssen, Inge B.

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Y1 - 2026/1/14

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/105028226928

M3 - Article

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VL - 169

JO - Nederlands tijdschrift voor geneeskunde

JF - Nederlands tijdschrift voor geneeskunde

ER -

Sproetjes, café-au-laitvlekken en cutane noduli

Abstract

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