Last reviewed:December 2019
Last updated:March  2018

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • blistering skin lesions

Other diagnostic factors

  • skin hyperpigmentation
  • hypertrichosis
  • scarring alopecia
  • red urine

Risk factors

  • males, middle age, white
  • alcohol use
  • smoking
  • oestrogen use
  • hepatitis C
  • HIV
  • hereditary haemochromatosis gene (HFE) mutation
  • uroporphyrinogen decarboxylase (UROD) mutations
  • exposure to halogenated polycyclic aromatic hydrocarbons
  • reduced levels of antioxidants
  • end-stage renal disease
  • diabetes mellitus

Diagnostic investigations

Treatment algorithm

Contributors

Associate Professor

Department of Medicine and Surgery

Baylor College of Medicine

Houston

TX

Disclosures

GS is an author of a number of references cited in this topic.

Professor

Departments of Preventive Medicine and Community Health and Internal Medicine

University of Texas Medical Branch

Galveston

TX

Disclosures

KEA has received grants from the National Institutes of Health, the US Food and Drug Administration, and Alnylam Pharmaceuticals; he is an author of a number of references cited in this topic.

Peer reviewersVIEW ALL

Consultant Dermatologist

Honorary Clinical Senior Lecturer

Department of Dermatology

Ninewells Hospital & Medical School

Dundee

UK

Disclosures

RSD declares that he has no competing interests.

Professor of Medicine (Dermatology)

University of Louisville

Louisville

KY

Disclosures

JPC declares that he has no competing interests.

Professor and Chief

Gastroenterology

University of California

San Francisco

CA

Disclosures

MB declares that he has no competing interests.

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