Picture Quiz: Distinctive skin signs
A 48 year old man presented to the accident and emergency department with syncope and was admitted for further investigation. He had the signs shown in figures 1 and 2, which are well recognised clinical features of an inherited disorder.
The genetic basis for the development of the disease is the inactivation of the NF1 gene, located on chromosome 17; its main role is to act as a tumor suppressor gene. The inactivation of the gene leads to loss of functions and the development of the clinical manifestations.
Surgery to remove eighth-nerve tumours is the only treatment. Genetic counselling is important. All children at risk should have annual neurological examinations after puberty but can be excluded from risk by genetic testing for a known family mutation.
Lakkis M, Tennekoon G. Neurofibromatosis type 1. J Neurosci Res 2000;62:755-63.