Treatment: If a pancreatic or liver tumor is identified and able to be surgically excised, the skin lesions may normalize for an extended period of time, but because these tumors metastasize (spread to other areas of the body) quickly, surgery is not curative. In cases of end stage liver disease, surgery is not possible, and the goal of therapy is to increase quality of life and decrease uncomfortable skin lesions with supportive care and addressing the nutritional abnormalities. Supportive care includes supplementing protein and necessary minerals and enzymes through the diet and oral supplements or by weekly intravenous amino acid infusions that are performed in the hospital on an outpatient basis until improvement in the skin is noted. Unfortunately, despite the supportive care, the disease will progress.
The primary mineralocorticoid , aldosterone , is produced in the adrenocortical zona glomerulosa by the action of the enzyme aldosterone synthase (also known as CYP11B2 ).   Aldosterone is largely responsible for the long-term regulation of blood pressure . Aldosterone effects on the distal convoluted tubule and collecting duct of the kidney where it causes increased reabsorption of sodium and increased excretion of both potassium (by principal cells) and hydrogen ions (by intercalated cells of the collecting duct). Sodium retention is also a response of the distal colon, and sweat glands to aldosterone receptor stimulation. Although sustained production of aldosterone requires persistent calcium entry through low-voltage activated Ca 2+ channels , isolated zona glomerulosa cells are considered nonexcitable, with recorded membrane voltages that are too hyperpolarized to permit Ca 2+ channels entry.  However, mouse zona glomerulosa cells within adrenal slices spontaneously generate membrane potential oscillations of low periodicity; this innate electrical excitability of zona glomerulosa cells provides a platform for the production of a recurrent Ca 2+ channels signal that can be controlled by angiotensin II and extracellular potassium , the 2 major regulators of aldosterone production.  Angiotensin II originates from plasmatic angiotensin I after the conversion of angiotensinogen by renin produced by the juxtaglomerular cells of the kidney .
Failure of MC2R to activate in response to ACTH causes familial glucocorticoid deficiency (FGD), a rare autosomal recessive disorder characterized by severe cortisol deficiency with high plasma ACTH concentrations and normal mineralocorticoid levels. MC2R mutations resulting in effective loss of the receptor function are responsible for FGD type 1, which accounts for up to 25 percent of all FGD cases [ 5 ]. (See "Causes and clinical manifestations of primary adrenal insufficiency in children", section on 'Familial glucocorticoid deficiency (FGD)' .)