New Light on the Porphyrias

A review of the clinical and biochemical features, risk factors, and treatment options for this family of disorders

The nine porphyrias are disorders of heme metabolism, and many have prominent cutaneous manifestations. The authors of two recent articles provide succinct overviews of our current knowledge of these diseases.

Porphyria cutanea tarda (PCT) is the most common porphyria and the one that dermatologists see most frequently. Nearly 90% of PCT patients present with skin fragility, bullae on the hands, or both. Although the lesions are caused by exposure to light, fewer than 30% of patients complain of photosensitivity. Unusual manifestations include facial hypertrichosis (often misdiagnosed as hirsutism in women) and elevated liver function tests without skin fragility or bullae. Most patients have two or more risk factors for PCT. Hepatitis C vir…

Reviewing Author

Craig A. Elmets, MD

Disclosures

Consultant / Advisory board Astellas Pharmaceuticals

EquityVaxin

Grant / Research support NIH; NIH/NCI; Veteran’s Administration; Ferndale Laboratories; Kyowa Hakko Kirin Pharma, Inc.

Editorial boards Cancer Prevention Research; Photodermatology, Photoimmunology, & Photomedicine; UpToDate; eMedicine; Journal of Dermatological Sciences; JAMA Dermatology

Leadership positions in professional societies American Academy of Dermatology (Vice Chair, Committee on Science and Research); Photomedicine Society (Board of Directors)