[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.
Harde
Viola
V
Klinik für Dermatologie, Venerologie und Allergologie, Universitätsklinikum Schleswig-Holstein, Campus Kiel.
Müller
Marina
M
Sippell
Wolfgang G
WG
Schwarz
Thomas
T
Fölster-Holst
Regina
R
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*
D013252:Steroid 11-beta-Hydroxylase