Cushing syndrome in a young woman due to primary pigmented nodular adrenal disease.

OBJECTIVE: To report a case of Cushing syndrome due to apparently sporadic primary pigmented nodular adrenal disease in a young woman. METHODS: We describe the clinical, biochemical, radiologic, and histologic findings of Cushing syndrome due to the rare condition of primary pigmented nodular adrenal disease. RESULTS: A 30-year-old woman presented with a 2-year history of worsening itch without rash over her shoulders and arms and weight gain, particularly around the abdomen and face. Careful questioning did not elicit any history of exogenous glucocorticoid use (systemic or topical), including hydrocortisone. On examination, the patient had a slightly rounded and plethoric face, a small buffalo hump, central adiposity, and thin skin with a few small striae on her inner thighs. No features of the Carney complex were observed. Investigations showed hypercortisolism with suppressed corticotropin and normal adrenal imaging despite documentation of enlarged adrenal glands at removal. High-dose dexamethasone administration was followed by a decrease in urinary free cortisol excretion rather than a paradoxical rise as previously reported in primary pigmented nodular adrenal disease. No mutations were detected in the PRKAR1A gene. CONCLUSIONS: Primary pigmented nodular adrenal disease should be suspected in patients with corticotropin-independent Cushing syndrome who have normal adrenal imaging. The role of genetic testing in apparently sporadic cases is not established, but cumulative experience may be helpful in defining the frequency of PRKAR1A mutations.

Unilateral limited scleroderma-like changes following formation of an arteriovenous fistula.

A 55-year-old man presented with a 1-year history of progressive skin thickening involving the right hand associated with Raynaud's phenomenon, sclerodactyly and painful cutaneous ulcers. An arteriovenous fistula for haemodialysis had been formed on the same arm 2 years previously. There were no symptoms or signs of systemic sclerosis or involvement of the contralateral arm. The limb was clinically ischaemic, attributed to a vascular steal phenomenon from the arteriovenous fistula, superimposed on occlusive arterial disease. A revascularization procedure was performed, which resulted in substantial improvement in the sclerodactyly, Raynaud's phenomenon and hand function. Tissue hypoxia is believed to be a contributing factor in the pathogenesis of scleroderma, and this case demonstrates scleroderma-like changes in the setting of limb ischaemia.