Skin as a Window to Diagnose Inborn Errors of Metabolism

Abstract

Skin serves as a window to diagnose many systemic diseases, including inborn errors of metabolism (IEM). IEM occur due to disturbance in the metabolism of carbohydrates, proteins, fats, and other micronutrients. Amino acid disorders, organic acidurias, transport defects, urea cycle diseases, storage disorders, and micronutrient defects are some of them which are included under this spectrum. As timely intervention can improve the outcome in some of these conditions, it is prudent to be aware of their clinical presentation. Dermatologist can play a crucial role in the diagnosis of these conditions as many of them can have skin, hair, and mucosal findings that serve as markers for unrecognized IEM. The aim of this review is to give a succinct outline of the cutaneous features seen in commonly encountered IEMs.