Nature

Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome

Peripheral nerve sheath tumors, specifically neurofibromas and schwannoma variants, occur both sporadically and in the setting of hereditary conditions, including neurofibromatosis type 1 (NF1), ...

Boy being treated for rare non-cancerous tumors at Thiruvananthapuram hospital

The seven-year-old has been in severe pain and respiratory distress because of Plexiform Neurofibroma (PN), a rare condition ...
Nature

Isolated conjunctival neurofibromas at the puncta, an unusual cause of epiphora

A 45-year-old lady, originally from Surinam, presented with a 3 year history of epiphora and irritation of both eyes. There was no other relevant past medical or family history. Visual acuity was ...
Kaleido Scope

Clinical Management of Plexiform Neurofibromas in the Era of Selumetinib and Other MEK Inhibitor Drugs

This month, our discussion focuses on the clinical management of plexiform neurofibromas in the era of selumetinib, a MEK inhibitor medication that was approved by the FDA in 2020 for the treatment of ...
CMAJ

A patient with loss of vision in the right eye and neurofibromatosis type 1

Abstract: Neurofibromatosis type 1 is a common autosomal dominant condition that affects about 1 in 5000 people. We describe a 75-year-old man who, in addition to many classic developmental changes of ...