Diagnosis
Understanding the symptoms of Neurofibromatosis (NF) is the first step toward getting the right care and support. On this page, we outline the common signs and symptoms to look for, helping you recognize NF early.
01
Skin Changes
Cafe-au-late spots (flat, light brown birthmarks or spots), freckling in armpits and groin.
02
Skeletal
Scoliosis (curvature of the spine), bone deformities and growth problems.
03
Nervous System
Learning disabilities, ADHD, optic nerve tumours (gliomas), headaches, balance problems and nerve damage.
04
Tumours
Neurofibromas (benign tumours that can grow along nerves), schwannomas (benign tumours that can affect nerves, particularly in NF2) and in some cases, malignant peripheral nerve sheath tumours.
05
Others
High blood pressure, fatigue, hearing loss, itching and in some cases, increased risk of other cancers.
Diagnosis & Treatment
NF can affect individuals in different ways and the severity of symptoms vary greatly.
​
Consult with a healthcare professional for proper diagnosis and management of neurofibromatosis.
​
There is no cure, but many symptoms can be managed with treatment by neurologists, ophthalmologists and orthopaedic, plastic or neurosurgeons, including medications, surgery and radiation therapy.
Health Care Professionals
These resources are intended to be part of the tool kit for review and surveillance of NF 1 Patients
​
​
NF1 learning module for GP's and Paediatrician's
Explore Neurofibromatosis Type 1 (NF1) and the GP and Paediatrician's role in the complex diagnosis and management journey of patients and their caregivers.
​
In this RACGP CPD Approved and ACCRM CPD Accredited activity produced by CPD provider Lateral Connections, join the experts in an immersive online program and earn 2 hours of CPD (including 1 hour of reviewing performance).
The learning objectives:
-
Discuss the pathophysiology, burden, and impact of NF1 in children
-
Identify the symptoms associated with NF1 throughout childhood
-
Apply the diagnostic criteria of NF1
-
Discuss management strategies related to NF1 symptomatology.
A diagnosis of NF2-related schwannomatosis can be made when a patient has one of the following:
Bilateral vestibular schwannomas (VS)
An identical NF2 pathogenic variant* in at least two anatomically distinct NF2-related tumors (schwannoma, meningioma, and/or ependymoma)
Either two Major OR one Major and two Minor criteria are present as follows:
MAJOR CRITERIA
-
Unilateral vestibular schwannoma
-
First-degree relative other than a sibling with NF2-related schwannomatosis
-
Two or more meningiomas. (Note: single meningioma qualifies as a minor criterion)
-
NF2 pathogenic variant* in an unaffected tissue such as blood
*When the variant is present at significantly less than 50%, the diagnosis is mosaic NF2-related schwannomatosis
MINOR CRITERIA
Can count more than one of a type (e.g., two schwannomas = two minor criteria)
-
Ependymoma; schwannoma (Note: if the major criterion is unilateral VS, at least one schwannoma must be dermal in location)
Can count only once
-
Juvenile subcapsular or cortical cataract; retinal hamartoma; epiretinal membrane in a person aged less than 40 years; meningioma
(Note: multiple meningiomas qualify as a major criterion; meningioma cannot be used as both a major and a minor criteria)