The neurocutaneous syndromes are uncommon but not rare. Neurofibromatosis is one of the more common conditions seen, with an estimated incidence of 1 in 3,000 individuals. Diagnosis is usually made with the appearance of at least 2 of 7 diagnostic criteria. The condition is due to a defect in the neurofibromin gene, but the penetrance is variable. Spontaneous mutations are known, and may be the case in your patient, given there are no other family members affected by the condition.

Aside from the skin tumours, the other conditions of interest are neurological and orthopedic. Optic gliomas and acoustic neuromas are the most common neurological tumour, and can be identified by ophthalmological and radiological imaging. Scoliosis of the spine is the most common orthopedic event. In your patient, it appears that none of these conditions were present.

While the gene is autosomal dominant, it appears that your patient is a spontaneous mutation. Any offspring can be offered genetic counselling, but if they didn’t fulfill the diagnostic criteria of NF by age 10 years, they’re unlikely to be affected. Otherwise, regular physical examinations would be the most aggressive one should be in this circumstance.

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