Primary pigmented nodular adrenocortical disease

PPNAD2

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing's syndrome, characterized by small, pigmented nodules in the adrenal glands. It is often associated with Carney complex, a genetic condition that includes multiple neoplasias and other abnormalities.

Presentation

Patients with PPNAD typically present with symptoms of Cushing's syndrome, including hypertension, weight gain, muscle weakness, and skin changes. The disease often manifests in childhood or adolescence.

Pathophysiology

PPNAD is caused by genetic mutations that lead to the formation of pigmented nodules in the adrenal cortex. These nodules produce excess cortisol, leading to the symptoms of Cushing's syndrome. The condition is frequently associated with Carney complex, which is caused by mutations in the PRKAR1A gene.

Diagnosis

Diagnosis of PPNAD involves a combination of imaging studies and laboratory tests. CT scans and MRIs can reveal the presence of adrenal nodules. Adrenal vein sampling may be used to confirm the source of excess cortisol production. Genetic testing can identify mutations associated with Carney complex.

Treatment

The primary treatment for PPNAD is surgical removal of the adrenal glands (adrenalectomy). In some cases, medications that inhibit cortisol production may be used. Lifelong follow-up is necessary to monitor for recurrence and manage any complications.

Prognosis

The prognosis for patients with PPNAD varies. Early diagnosis and treatment can improve outcomes, but the disease can be challenging to manage due to its chronic nature and potential complications.

Related Pages

• Cushing's syndrome
• Adrenal gland
• Carney complex
• Adrenalectomy
• Endocrinology