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Neurofibromatosis Type 1

All articles tagged with #neurofibromatosis type 1

NF1-Associated Cherry Angiomas Map a Vascular Tumor Mechanism
medicine2 hours ago

NF1-Associated Cherry Angiomas Map a Vascular Tumor Mechanism

Prospective study finds cherry angiomas are much more common in NF1 patients (48%) than controls (18%), with somatic second hits in NF1 predominantly in endothelial cells and telocytes, supporting a model where biallelic NF1 loss drives these vascular lesions; co-occurring GNAQ variants and UV mutagenesis suggest a shared origin and broader NF1-related vasculopathy.

Beach Day After 14 Months of Chemo for 5-Year-Old with NF1
health1 month ago

Beach Day After 14 Months of Chemo for 5-Year-Old with NF1

A 5-year-old girl in Ohio diagnosed with neurofibromatosis type 1 underwent a 14‑month chemotherapy regimen to protect her vision after tumors formed along her optic nerves. Once doctors reported the tumors were stable and treatment ended, Maddie Fries finally got to visit a beach with her family—a hopeful milestone after a brutal medical journey that will continue with regular scans for NF1, which is a lifelong condition.

"Unbreakable Bond: Pennsylvania Mother and Son Overcome Rare Genetic Disease Together"
health3 years ago

"Unbreakable Bond: Pennsylvania Mother and Son Overcome Rare Genetic Disease Together"

A Pennsylvania mother and her one-year-old son both have Neurofibromatosis Type 1 (NF), a rare genetic disease that causes tumors to form throughout the body. Despite having the same condition, they are impacted differently. The mother, Lindsey Marson, has undergone multiple surgeries and wears a brace due to the effects of NF, while her son, Bryson, has had a large tumor behind his eye, in his face, and part of his brain. They share a strong bond and Marson advocates for NF awareness through a Facebook page.

"Unbreakable Bond: Pennsylvania Mother and Son Overcome Rare Genetic Disease Together"
health3 years ago

"Unbreakable Bond: Pennsylvania Mother and Son Overcome Rare Genetic Disease Together"

A Pennsylvania mother and her one-year-old son both have Neurofibromatosis Type 1 (NF), a rare genetic disease that causes tumors to form throughout the body. Despite having the same condition, they experience different symptoms. The mother, Lindsey Marson, underwent multiple surgeries and wore a leg brace due to the effects of NF, while her son, Bryson, has a large tumor behind his eye, in his face, and part of his brain. Although it has been challenging, Marson's own diagnosis has given her a deeper understanding and strengthened the bond between her and her son. She has started a Facebook page to raise awareness about NF and support others facing the condition.