title: [Acne infantum as presenting symptom of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency].
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.
authors.affiliation: Klinik für Dermatologie, Venerologie und Allergologie, Universitätsklinikum Schleswig-Holstein, Campus Kiel.
authors.forename: Viola
authors.initials: V
authors.lastname: Harde
authors.forename: Marina
authors.initials: M
authors.lastname: Müller
authors.forename: Wolfgang G
authors.initials: WG
authors.lastname: Sippell
authors.forename: Thomas
authors.initials: T
authors.lastname: Schwarz
authors.forename: Regina
authors.initials: R
authors.lastname: Fölster-Holst
mesh_terms: D000152:Acne Vulgaris / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D006801:Humans; D008297:Male; D013252:Steroid 11-beta-Hydroxylase / Q000378:metabolism*
chemical_list: D013252:Steroid 11-beta-Hydroxylase