Chapter 152

Metabolic Disorders and the Skin

Fatma Al Jasmi

Fatma Al Jasmi

College of Medicine and Health Science, United Arab Emirates University, Al Ain, United Arab Emirates

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Hassan Galadari

Hassan Galadari

College of Medicine and Health Science, United Arab Emirates University, Al Ain, United Arab Emirates

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Peter T. Clayton

Peter T. Clayton

Institute of Child Health, University College London with Great Ormond Street Hospital for Children NHS Trust, London, UK

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Emma J. Footitt

Emma J. Footitt

Institute of Child Health, University College London with Great Ormond Street Hospital for Children NHS Trust, London, UK

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First published: 20 November 2019
Citations: 1

Summary

Metabolic disorders, both inherited and acquired, result from enzyme deficiency or overload, leading to accumulation or deficiency of a specific metabolite. These are generally multisystem disorders and frequently present with cutaneous features. Knowledge and recognition of these cutaneous features by the paediatric dermatologist can lead to early diagnosis and initiation of therapy, and there is evidence that early management may improve outcome in some diseases. This chapter discusses the cutaneous manifestations and management of metabolic diseases.

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