Rare genetic disorder characterized by multiple benign tumours (multiple neoplasia) most often affecting the heart, skin and endocrine system and abnormalities in skin pigmentation

Aetiology

• Mutation in PRKAR1A - defective regulatory subunit leading to aberrant PKA signalling → uncontrolled proliferation

Clinical features

• PPNAD is primary pigmented nodular adrenocortical disease
  • Causes the adrenal glands to proceed an excess of cortisol leading to the development of Cushing’s