Miliaria rubra and thrombocytosis in pseudohypoaldosteronism: Case report

Abstract

Pseudohypoaldosteronism type 1 (PHA1) is a disease involving a state of renal tubular unresponsiveness to the action of aldosterone and characterized by excessive salt loss in the urine, hyperkalemia, and metabolic acidosis. In kidney, PHA1 may occur primarily by mutations in the subunits of the sodium channel or in the mineralocorticoid receptors, and secondarily by several renal disorders. Miliaria rubra and thrombocytosis are reported in a 6-month-old girl with PHA1. In patients with PHA1, miliaria rubra-like cutaneous eruptions are suggested to occur due to obstruction of eccrine sweat glands through inflammation caused by excessive sodium excretion in sweat during hyponatremic crises. The presence of thrombocytosis in patients with PHA1 has not been previously reported. A hypothesis is proposed suggesting that sympathetic activation which provides vascular tonus during sodium excretion in sweat and salt-depletion crisis may play a role in the development of eruptions and thrombocytosis in patients with PHA1.

Two Cases with Pseudohypoaldosteronism

“…PHA olgularda terde sodyum klorür konsantrasyonu normal sınırın üzerinde saptanır ve terde bulunan yüksek tuz oranı miliaria rubra olarak bilinen kutanöz lezyonlara neden olur (17,18). PHA'lı olgular plazma renin ve aldosteron düzeylerinin son derece yüksek olmasına rağmen, hiponatremi, hiperkalemi ve metabolik asidoz ile ilişkili tuz kaybı ile başvurur.…”

“…Vasküler tonusun azalması sonucu norepinefrin deşarjına bağlı vazokonstrüksiyon olur ve bu norepinefrin deşarjı trombositoza neden olur. Norepinefrin deşarjına bağlı vazokonstrüksiyon, sempatik postganlionik muskarinik reseptörlerin uyarılmasına neden olur ve olgularda daha fazla terleme oluşur (17,18). Ter bezlerinde bulunan yüksek sodyum klorür konsantrasyonu ekrin kanallarını doğrudan etkiler.…”

“…Ter bezlerinde bulunan yüksek sodyum klorür konsantrasyonu ekrin kanallarını doğrudan etkiler. Ter yolu ile oluşan daha fazla sodyum kaybı miliaria rubra adı verilen deri lezyonlarına neden olur (17,18). Bizim olgularımız da miliaria rubra ve trombositoz saptanmadı.…”

Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in <b><i>SCNN1A</i></b>and <b><i>SCNN1B</i></b>Genes

“…All of our cases presented with similar findings (Table 1). High chloride content at sweat tests and excessive sodium excretion from sweat glands cause the skin lesions known as miliaria rubra [21-23]. All of our cases had elevated chloride concentrations at sweat tests, and miliaria rubra was determined in 1 case [23].…”

“…All of our cases had elevated chloride concentrations at sweat tests, and miliaria rubra was determined in 1 case [23]. Cystic fibrosis, pancreatic exocrine insufficiency, hypoaldosteronism, Addison disease, panhypopituitarism, and secondary PHA should be considered in the differential diagnosis of these cutaneous findings and high sweat tests [23, 24]. …”