Journal of clinical pathology
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Paragangliomas and phaeochromocytomas may occur in syndromic or sporadic forms. The former are well recognised with multiple endocrine neoplasia (MEN) type 2 and von Hippel-Lindau syndromes. A few cases are associated with neurofibromatosis type 1. ⋯ Patients with SDHD and SDHC mutations have a higher positive family history (66%) and have head and neck paragangliomas. SDHD patients present at 30 years with multiple tumours, while in SDHC mutation carriers, single tumours appear at around 38 years of age. A small percentage of patients with sporadic paragangliomas/phaeochromocytomas may have SDH mutations as well.