Guidelines for the diagnosis and management of individuals with Neurofibromatosis 1 (NF1)

Rosalie E Ferner ^1*, Susan M Huson ², Nick Thomas ³, Celia Moss ⁴, Harry Willshaw ⁴, D Gareth Evans ², Meena Upadhyaya ⁵, Richard Towers ⁶, Michael Gleeson ¹, Christine Steiger ⁷ and Amanda Kirby ⁸

¹ Guy's Hospital, United Kingdom
² St. Mary's Hospital Manchester, United Kingdom
³ King's College Hospital, United Kingdom
⁴ Birmingham Childrens' Hospital, United Kingdom
⁵ University of Wales College of Medicine, United Kingdom
⁶ Royal Marsden Hospital, United Kingdom
⁷ Alder Hey Children’s Hospital, United Kingdom
⁸ Dyscovery Centre, Newport, United Kingdom

^* To whom correspondence should be addressed. E-mail: rosalie.ferner{at}kcl.ac.uk.

Accepted 16 October 2006

Abstract

Neurofibromatosis 1 is a common neurocutaneous condition with an autosomal dominant pattern of inheritance. The complications are diverse and disease expression varies, even within families. Progress in molecular biology and neuroimaging and the development of mouse models have helped to elucidate the aetiology of NF1 and its’ clinical manifestations. Furthermore, these advances have raised the prospect of therapeutic intervention for this complex and distressing disease. Members of The United Kingdom Neurofibromatosis Clinical Advisory Board collaborated to produce a consensus statement on the current guidelines for diagnosis and management of NF1. The proposals are based on published clinical studies and on the pooled knowledge of experts in neurofibromatosis with experience of providing multidisciplinary clinical and molecular services for NF1 patients. The consensus statement discusses the diagnostic criteria, major differential diagnoses, clinical manifestations and the present strategies for monitoring and management of NF1 complications.

Keywords: GIST, glioma, malignant peripheral nerve sheath tumour, plexiform neurofibroma, scoliosis

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