OBSOLETE: Primary pigmented nodular adrenocortical disease

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare form of bilateral adrenal hyperplasia characterized by the presence of small pigmented nodules (usually less than 1 cm) in the adrenal cortex that produce excess cortisol, leading to ACTH-independent Cushing syndrome. This Orphanet entry (189439) is marked as OBSOLETE, meaning it has been retired and its content has been merged into or replaced by other, more current disease classifications. PPNAD is now typically classified under Carney complex (Orphanet code 1359) or as isolated primary pigmented nodular adrenocortical disease. PPNAD primarily affects the endocrine system, specifically the adrenal glands. Patients may present with signs and symptoms of Cushing syndrome, including weight gain (particularly central obesity), moon facies, skin thinning, easy bruising, purple striae, muscle weakness, hypertension, glucose intolerance, and osteoporosis. The condition can occur in isolation or as part of Carney complex, a multiple neoplasia syndrome that also involves cardiac myxomas, skin pigmentation abnormalities (lentigines, blue nevi), and other endocrine and non-endocrine tumors. PPNAD most commonly presents in children and young adults. The condition is most frequently caused by inactivating mutations in the PRKAR1A gene, which encodes the type 1A regulatory subunit of protein kinase A, and follows an autosomal dominant inheritance pattern. Other genetic loci have also been implicated. Treatment typically involves bilateral adrenalectomy to control hypercortisolism, followed by lifelong glucocorticoid and mineralocorticoid replacement therapy. Patients who are part of Carney complex require ongoing surveillance for associated tumors. For the most current clinical information, patients and clinicians should refer to the active Orphanet entries for Carney complex or isolated PPNAD.

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