Inherited Skin Tumour Syndromes

Abstract

Abstract This chapter covers three exemplar inherited skin tumour syndromes: neurofibromatosis type 1 (NF1), the tuberous sclerosis complex and familial adenomatous polyposis, as well as providing an overview of inherited tumour syndromes with cutaneous manifestations. NF1, tuberous sclerosis complex and familial adenomatous polyposis have diverse clinical and genetic features and require disease‐specific knowledge for diagnosis, along with targeted interventions and cancer surveillance plans. All three share in common the clinical presentation of multiple benign skin tumours, which are often pathognomonic for these genetic conditions, and a significant risk of cutaneous and non‐cutaneous neoplasia. The chapter reviews the clinical features of these conditions, their genetic bases and diagnostic tests and provide guidance for management of these conditions.