What it is
Many people have mild symptoms, but it can cause learning difficulties, bone problems, high blood pressure and, rarely, cancers.
There is no cure, but yearly check-ups help find problems early. Some lumps can be removed, and newer medicines can shrink certain tumours.
Common signs
- Six or more café au lait spots
- Freckles in the armpits or groin
- Soft lumps on or under the skin
- Learning or attention difficulties
- A curved spine or bowed legs
How it is usually diagnosed
- Examination of the skin and eyes
- Family history
- Genetic testing, sometimes
Records worth keeping
Keeping these together makes each appointment easier, especially when you see a new doctor:
- Yearly check-up notes
- Eye examination results
- Blood pressure readings
- Scan reports and genetics letters
Questions to ask your doctor
- What checks are needed each year?
- Could my children inherit it?
- Which changes in a lump should I report?
When to get help right away
Call 112 or go to the nearest emergency department if you have:
- A lump that suddenly grows, becomes painful or hard, or new weakness or numbness: get it checked promptly
This page is general information. It is not a diagnosis and does not replace a doctor who knows your history. Medfold keeps your records organised; it does not interpret them.