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异维A酸无反应性痤疮作为一种先天性疾病的体征:一例21-羟化酶缺乏症病例

Isotretinoin-unresponsive acne as a sign of a congenital disorder: a case of 21-hydroxylase deficiency.

作者信息

Marzola Elisa, Bettoli Vincenzo

机构信息

Department of Medical Sciences, Section of Dermatology and Infectious Diseases, University of Ferrara, Italy.

出版信息

Dermatol Reports. 2023 Aug 24;16(1):9717. doi: 10.4081/dr.2023.9717. eCollection 2024 Mar 12.

Abstract

Acne is a multifactorial and common disorder among young people and a frequent reason for dermatology consultation. When moderate-to-severe acne is not responsive to conventional treatments, oral isotretinoin is a very effective solution. However, there are cases in which this treatment fails to produce the expected results. In this case, an 18-year-old male patient with acne, unresponsive to traditional acne therapies, experienced only a partial benefit from oral isotretinoin. Endocrinology consultation and hormonal work-up revealed androgen metabolism anomalies suggestive of a non-classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. In this case report, the authors discuss when to suspect, how to diagnose, and how to manage similar cases.

摘要

痤疮是一种在年轻人中常见的多因素疾病,也是皮肤科会诊的常见原因。当中重度痤疮对传统治疗无反应时,口服异维A酸是一种非常有效的解决方法。然而,在某些情况下,这种治疗未能产生预期效果。在本病例中,一名18岁的痤疮男性患者对传统痤疮治疗无反应,口服异维A酸仅获得部分益处。内分泌科会诊和激素检查显示雄激素代谢异常,提示因21-羟化酶缺乏导致的非经典型先天性肾上腺皮质增生。在本病例报告中,作者讨论了何时怀疑、如何诊断以及如何处理类似病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5359/11017713/60a2319324a5/dr-16-1-9717-g001.jpg

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