Acne infantum as presenting symptom of congenital adrenal hyperplasia due to 11‐beta‐hydroxylase deficiency

Infantile acne is a rare condition which usually begins after the third month of life and appears mainly on the cheeks. Spontaneous healing typically occurs within 2 years. A 2‐year‐old boy developed acne infantum during the first days after birth; it failed to respond to topical treatment. Detailed physical examination and endocrinologic evaluation confirmed the presumed diagnosis of congenital adrenal hyperplasia (CAH), and showed it was caused by 11‐beta‐hydroxylase deficiency. CAH comprises a group of autosomal‐recessively inherited disorders. These hereditary enzyme defects in steroid biosynthesis cause glucocorticoid deficiency and an overproduction of biosynthetic precursor steroids. Adrenal androgen biosynthesis is not impaired but shows a massive reactive overproduction due to the increased ACTH secretion within the up‐regulated hypothalamo‐pituitary‐adrenal system. The characteristic features of CAH in male infants are demonstrated on the basis of this case report.