Cafe au lait spots and neurofibromatosis

A cafe au lait spot is a flat area of increased pigment. Neurofibromatosis is a genetic condition that can affect skin, nerves, eyes, and bones. Spots alone do not diagnose it. A clinician asks about relatives, examines the whole skin surface, and looks for associated features such as freckling in less sun-exposed folds or soft skin lumps. Many people with one or a small number of stable marks do not have neurofibromatosis.

Keep a dated record of marks, including their location and whether they change. Tell the clinician about similar findings in close relatives, learning or vision concerns, persistent pain, or new lumps. Depending on the examination and age, referral to dermatology, genetics, ophthalmology, or another specialist may be considered. Genetic testing is not automatically needed for every pigmented mark.

Book an assessment if marks are appearing progressively, are numerous, or occur alongside new lumps, unusual freckling, changes in vision, persistent bone pain, weakness, or significant headaches. Seek urgent care for sudden severe neurological symptoms or a rapidly enlarging painful lump. These symptoms have several possible causes, but they should be assessed rather than attributed to pigment spots.

Ask whether the spots fit a typical cafe au lait pattern, whether a skin examination is sufficient, and what signs would justify genetic or eye assessment. You can also ask how relatives should be evaluated and how often any identified findings should be monitored.