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Photocutaneous Porphyrias

  • Photodermatology (B Adler and V DeLeo, Section Editor)
  • Published:
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Abstract

Purpose of Review

Porphyrias are a group of eight uncommon-to-rare inherited or acquired metabolic disorders, each caused by enzyme dysfunction at various steps in the heme biosynthetic pathway. Photocutaneous porphyrias are a subset characterized by acute skin pain and/or chronic skin lesions as major features of disease signs and symptoms. Clinical and laboratory features, epidemiology, genetics, pathologic mechanisms, and current and future therapies of the photocutaneous porphyrias are discussed, with emphasis on information reflected in recent literature.

Recent Findings

Clinical and laboratory investigations of the last two decades have elucidated many aspects of the several porphyrias, especially in areas of genetics and genomic medicine. Published reviews, original investigations, and case reports of the last several years are too voluminous to list exhaustively; many are cited in literature referenced herein.

Summary

Recent progress in unraveling and solving enigmas posed by porphyrias suggests that newer and better approaches to their management, and possible life-altering, or even curative, therapies can be anticipated in the foreseeable future.

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Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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  1. Division of Dermatology, Columbia University Vagelos College of Physicians and Surgeons, 161 Fort Washington Avenue, New York, NY, 10032, USA

    Maureen B. Poh-Fitzpatrick

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Maureen B. Poh-Fitzpatrick was an consultant for Clinuvel Pharmaceuticals.

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Poh-Fitzpatrick, M.B. Photocutaneous Porphyrias. Curr Derm Rep 8, 52–62 (2019). https://doi.org/10.1007/s13671-019-0253-1

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