Isotretinoin-unresponsive acne as a sign of a congenital disorder: a case of 21-hydroxylase deficiency
HTML: 11
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
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
Hay RJ, Johns NE, Williams HC, et al. The global burden of skin disease in 2010: an analysis of the prevalence and impact of skin conditions. J Invest Dermatol. 2014;134:1527–34. DOI: https://doi.org/10.1038/jid.2013.446
Bhate K, Williams HC. Epidemiology of acne vulgaris. Br J Dermatol. 2013;168:474–85. DOI: https://doi.org/10.1111/bjd.12149
Dréno B. What is new in the pathophysiology of acne, an overview. J Eur Acad Dermatology Venereol. 2017;31:8–12. DOI: https://doi.org/10.1111/jdv.14374
Degitz K, Placzek M, Arnold B, et al. Congenital adrenal hyperplasia and acne in male patients. Br J Dermatol. 2003;148:1263–6. DOI: https://doi.org/10.1046/j.1365-2133.2003.05369.x
Makrantonaki E, Zouboulis CC. Hyperandrogenism, adrenal dysfunction, and hirsutism. Hautarzt. 2020;71:752–61. DOI: https://doi.org/10.1007/s00105-020-04677-1
Nast A, Dréno B, Bettoli V, et al. European evidence-based (S3) guideline for the treatment of acne – update 2016 – short version. J Eur Acad Dermatology Venereol. 2016;30:1261–8. DOI: https://doi.org/10.1111/jdv.13776
Borghi A, Mantovani L, Minghetti S, et al. Acute acne flare following isotretinoin administration: Potential protective role of low starting dose. Vol. 218, Dermatology. Dermatology; 2009. p. 178–80. DOI: https://doi.org/10.1159/000182270
Ornelas J, Rosamilia L, Larsen L, et al. Objective assessment of isotretinoin-associated cheilitis: Isotretinoin Cheilitis Grading Scale. J Dermatolog Treat. 2016;27:153–5. DOI: https://doi.org/10.3109/09546634.2015.1086477
Zaenglein AL, Pathy AL, Schlosser BJ, et al. Guidelines of care for the management of acne vulgaris. J Am Acad Dermatol. 2016;74:945–73. DOI: https://doi.org/10.1016/j.jaad.2015.12.037
Bagatin E, Costa CS. The use of isotretinoin for acne–an update on optimal dosing, surveillance, and adverse effects. Expert Rev Clin Pharmacol. 2020;13:885–97. DOI: https://doi.org/10.1080/17512433.2020.1796637
Lakshmi C. Hormone therapy in acne. Indian J Dermatol Venereol Leprol. 2013;79:322–37. DOI: https://doi.org/10.4103/0378-6323.110765
El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. Lancet. 2017;390:2194–210. DOI: https://doi.org/10.1016/S0140-6736(17)31431-9
Speiser PW, Arlt W, Auchus RJ, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An endocrine society* clinical practice guideline. J Clin Endocrinol Metab. 2018;103:4043–88. DOI: https://doi.org/10.1210/jc.2018-01865
Burdea L, Mendez MD. 21 Hydroxylase Deficiency. Encycl Endocr Dis. 2021;421–30.
Jha S, Turcu AF. Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know? Endocrinol Metab Clin North Am. 2021;50:151–65. DOI: https://doi.org/10.1016/j.ecl.2020.10.008
Lin-Su K, Nimkarn S, New MI. Congenital adrenal hyperplasia in adolescents: Diagnosis and management. Ann N Y Acad Sci. 2008;1135:95–8. DOI: https://doi.org/10.1196/annals.1429.021
Committee MS, Endocrinology JS for P, Screening JS for M, et al. Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014revision). Clin Pediatr Endocrinol. 2015;24:77. DOI: https://doi.org/10.1297/cpe.24.77
Bachelot A, Grouthier V, Courtillot C, et al. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Update on the management of adult patients and prenatal treatment. Eur J Endocrinol. 2017;176:R167–81. DOI: https://doi.org/10.1530/EJE-16-0888
Bettoli V, Zauli S, Virgili A. Is hormonal treatment still an option in acne today? Br J Dermatol. 2015;172:37–46. DOI: https://doi.org/10.1111/bjd.13681
Copyright (c) 2023 the Author(s)
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
PAGEPress has chosen to apply the Creative Commons Attribution NonCommercial 4.0 International License (CC BY-NC 4.0) to all manuscripts to be published.