Affiliation:
1. Department of Dermatology, Venereology and Leprology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India
2. Department of Child Health - Pediatric Endocrinology and Metabolism Division, Christian Medical College and Hospital, Vellore, Tamil Nadu, India
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.
Subject
Psychiatry and Mental health,Neuropsychology and Physiological Psychology
Reference18 articles.
1. Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice;Agana;Ann Transl Med,2018
2. Inborn errors of metabolism overview:Pathophysiology, manifestations, evaluation, and management;Saudubray;Pediatr Clin North Am,2018
3. The eye and the skin in nonendocrine metabolic disorders;Urrets-Zavalía;Clin Dermatol,2016
4. Organic acidurias:An updated review;Vaidyanathan;Indian J Clin Biochem,2011
5. A case of classic galactosemia manifesting as neonatal early and profound indirect hyperbilirubinemia;Kavehmanesh;Turk Pediatri Ars,2020