For a diagnosis of NF1 to be made, at least two of the following symptoms should be present: Six or more CALMs, with a size greater than 5mm in children or over 15mm in adults At least one plexiform neurofibroma, which is a type of benign tumor, or any two other types of neurofibromas Freckles in the armpit or groin area, a sign indicative of NF1 Optic glioma, a type of brain tumor affecting the eyes Two or more Lisch nodules, which are benign growths on the iris of the eye A distinct bone abnormality, like abnormal bone thinning or a condition causing false joints in the bone A first-degree relative, such as a parent, sibling or child, with a diagnosis of NF1 There are other genetic syndromes associated with multiple CALMs, including Neurofibromatosis type 2 (NF2), McCune Albright Syndrome, Legius syndrome, Watson Syndrome, and Noonan syndrome with multiple lentigines (also known as LEOPARD syndrome)
While we still need more long-term data, the evidence available so far appears fairly reassuring
N Engl J Med 375:18341844 Holman RR, Bethel MA, Mentz RJ, Thompson VP, Lokhnygina Y, Buse JB, Chan JC, Choi J, Gustavson SM, Iqbal N, Maggioni AP, Marso SP, hman P, Pagidipati NJ, Poulter N, Ramachandran A, Zinman B, Hernandez AF (2017) EXSCEL Study Group
Manufacturers have acknowledged that hair shedding may be related more to weight loss itself than to any toxic effect of the medication on hair follicles
