When acne is just the tip of the iceberg

Abstract

OBJECTIVE: Acne is a common pathology in adolescence. Severe acne, resistant to therapy or associated with systemic signs may be the manifestation of a systemic disease. We describe a case of congenital adrenal hyperplasia, non-classical form (CHRS-NC), which manifested as a case of severe and refractory acne. CASE DESCRIPTION: We present the case of an adolescent who was evaluated in a consultation at the age of eleven for exuberant acne that had been progressively worsening since the age of eight, with poor response to treatment. There were no signs of precocious puberty, growth acceleration or hirsutism. Laboratory tests showed elevated total testosterone, delta-4-androstenedione and 17-hydroxyprogesterone, with no ultrasound alterations in the adrenal gland and no criteria for polycystic ovary. A genetic study confirmed the suspected diagnosis of CHRS-NC, at which point she was treated with hydrocortisone and had a good response. COMMENTS: In this clinical form, there is partial enzyme blockade, and there is no cortisol deficiency. Therefore, it may present late through signs and/or symptoms caused by hyperandrogenism. In symptomatic cases, oral corticosteroid therapy is recommended. Severe acne that is refractory to treatment should be investigated and the hypothesis of HCRS-NC should be considered. The diagnosis of HCRS-NC is also important because it is a possible cause of infertility and prenatal counseling is recommended.