The neurofibromatoses comprise several distinct genetic disorders that lead to the formation of tumours surrounding nerves and a variety of other pathological features. It does not include neurofibromatosis type 2, which is characterised by CNS tumours, such as bilateral acoustic neuromas, and few cutaneous features.
This chapter is set out as follows:. Please refer to notes on image rights at bottom of the page with regards to individual image ownership. Patients with suspected or possible NF1 should be referred, preferably to an individual who specialises in the management of NF patients, or if not available to a local dermatology or genetics department check local pathways. The outcomes of such a referral should include:.
Disclaimer - the author PCDS cannot accept responsibility for any misleading or incorrect statements, and the management of individual patients remains the direct responsibility of the individual doctor. We do however hope that visitors to this site can contact us regarding comments that are considered misleading or incorrect so that we can continue to improve the site. All named individuals and organisations maintain copyright for the relevant images.
It is important for the PCDS to build its own image bank, as such we welcome original images from our readers, especially in skin of colour:. The following pharmaceutical companies have had no involvement in the content of this website or in our conference programmes. Neurofibromatosis type 1 syn. NF1 is a multisystem disorder that is commonly associated with cutaneous, neurological, bone and soft tissue manifestations The cutaneous features are described in the clinical findings The systemic features are described in the management section.
Lesions are over 5 mm in their greatest diameter in pre-pubertal individuals and over 15 mm in their greatest diameter in post-pubertal individuals They are the first feature of NF1 to appear in children. They start to appear in most patients in the first year of life and almost all will have lesions present by the age of five years. These are usually isolated findings without systemic involvement. Although the same colour as cafe-au-lait patches, lesions are more extensive, are often asymmetrical and have an irregular or serrated margin Other features include skeletal abnormalities and in girls precocious puberty.
