Isotretinoin-Unresponsive Acne as a Sign of a Congenital Disorder: A Case of 21-Hydroxylase Deficiency

August 2023 in “ Dermatology Reports ”

Elisa Marzola, Vincenzo Bettoli

isotretinoin acne 21-hydroxylase deficiency congenital adrenal hyperplasia androgen metabolism anomalies hormonal work-up Accutane hormonal imbalance

TLDR Acne not improved by usual treatments may indicate a genetic disorder.

The document discusses a case of an 18-year-old male patient with acne that was unresponsive to traditional acne therapies, including oral isotretinoin. Upon further investigation through endocrinology consultation and hormonal work-up, it was discovered that the patient had androgen metabolism anomalies indicative of a non-classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. This suggests that in some cases, acne unresponsive to conventional treatments could be a sign of an underlying congenital disorder.

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