Carney Complex

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 presentation

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  • PPNAD is primary pigmented nodular adrenocortical disease
    • Causes the adrenal glands to procude an excess of cortisol leading to the development of Cushings