Pheochromocytoma and paragangliomas (PPGL) is a condition associated with tumours in or around the adrenal gland. A constitutional (germline) genetic variant in one of 15 predisposition genes may account for up to 40% of cases.

Café-au-lait macules are pigmented lesions (patches) that can be found anywhere on the body and typically range from light to dark brown in colour. The appearance of one or two is common within the general population. However, multiple café-au-lait macules in children, especially when accompanied by other suggestive features, may indicate an underlying genetic condition.