Michelle and Samantha Pearson are a mother-daughter duo diagnosed with NF1-PN, a rare and painful disease that causes benign ...

Because people with NF1 often have multiple café-au-lait spots, the disorder should be suspected in someone with six or more spots, at least five millimeters in size before puberty and 15 millimeters ...

NF1 is characterized by several light brown (café-au-lait) spots concentrated in the groin and armpits and benign tumors under the skin. Enlargement and deformity of the bones and curvature of ...

Optometrist, Monica Singh, outlines the key role that optometrists can play in the early detection of neurofibromatosis type ...

The first active clinical trial site is the Royal North Shore Hospital in Sydney, Australia, which is expected to begin patient enrollment in Q2 2025. Additional clinical trial sites in Australia, ...

Globally, NF1 affects approximately 1 in 3000 individuals. Plexiform neurofibromas (PN), a subtype of NF1-associated tumors, occur in up to 50% of patients with NF1.

Panelists discuss how mutations in the NF1 gene lead to loss of neurofibromin function, resulting in hyperactivation of the RAS/MAPK and PI3K/AKT/mTOR pathways, and how this molecular ...

Some people with NF1 may be completely unaware that they are affected, experiencing only a few café-au-lait spots and bumps on the skin during their lifetime. Others may develop, at any time, specific ...