Neurofibromatosis type 1

Ever wonder what if the cafe au lait macule on your patient might be something more than just a benign birth mark? Learn more about neurofibromatosis 1 and other genetic disorders associated with cafe au lait macules in today’s episode. 

This episode was written by pediatricians Tammy Yau and Lidia Park with content support from Suma Shankar (pediatric genomic medicine). Pediatricians Tammy and Lidia take full responsibility for any errors or misinformation.

Follow us on Twitter/X @Pediagogypod, Instagram/Threads @pediagogy, Bluesky @pediagogypodcast.bluesky.social, and connect with us at pediagogypod@gmail.com

Key Points:

• Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with complete penetrance but variable expression.
• NF1 can be diagnosed clinically if a patient has the following features and meets the specific clinical criteria: cafe au lait macules, neurofibromas, freckling, optic gliomas, iris hamartomas, an osseous lesion, and/or a first degree relative with NF1

Sources:

Pediatrics, Miller et al (2019) 143 (5): e20190660. https://doi.org/10.1542/peds.2019-0660