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  • Title: [Acne infantum as presenting symptom of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency].
    Author: Harde V, Müller M, Sippell WG, Schwarz T, Fölster-Holst R.
    Journal: J Dtsch Dermatol Ges; 2006 Aug; 4(8):654-7. PubMed ID: 16895568.
    Abstract:
    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.
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