Skip to main content

Main menu

  • Home
  • Articles
    • Current
    • Published Ahead of Print
    • Archive
    • Supplemental Issues
    • Collections - French
    • Collections - English
  • Info for
    • Authors & Reviewers
    • Submit a Manuscript
    • Advertisers
    • Careers & Locums
    • Subscribers
    • Permissions
  • About CFP
    • About CFP
    • About the CFPC
    • Editorial Advisory Board
    • Terms of Use
    • Contact Us
  • Feedback
    • Feedback
    • Rapid Responses
    • Most Read
    • Most Cited
    • Email Alerts
  • Blogs
    • Latest Blogs
    • Blog Guidelines
    • Directives pour les blogues
  • Mainpro+ Credits
    • About Mainpro+
    • Member Login
    • Instructions
  • Other Publications
    • http://www.cfpc.ca/Canadianfamilyphysician/
    • https://www.cfpc.ca/Login/
    • Careers and Locums

User menu

  • My alerts

Search

  • Advanced search
The College of Family Physicians of Canada
  • Other Publications
    • http://www.cfpc.ca/Canadianfamilyphysician/
    • https://www.cfpc.ca/Login/
    • Careers and Locums
  • My alerts
The College of Family Physicians of Canada

Advanced Search

  • Home
  • Articles
    • Current
    • Published Ahead of Print
    • Archive
    • Supplemental Issues
    • Collections - French
    • Collections - English
  • Info for
    • Authors & Reviewers
    • Submit a Manuscript
    • Advertisers
    • Careers & Locums
    • Subscribers
    • Permissions
  • About CFP
    • About CFP
    • About the CFPC
    • Editorial Advisory Board
    • Terms of Use
    • Contact Us
  • Feedback
    • Feedback
    • Rapid Responses
    • Most Read
    • Most Cited
    • Email Alerts
  • Blogs
    • Latest Blogs
    • Blog Guidelines
    • Directives pour les blogues
  • Mainpro+ Credits
    • About Mainpro+
    • Member Login
    • Instructions
  • RSS feeds
  • Follow cfp Template on Twitter
  • LinkedIn
  • Instagram
OtherPractice

Answer: Can you identify this condition?

Patricia Ting and Stewart Adams
Canadian Family Physician July 2013; 59 (7) 753-755;
Patricia Ting
Dermatologist in Calgary, Alta.
MSc MD FRCPC
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Stewart Adams
MD FRCPC
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • Figures & Data
  • eLetters
  • Info & Metrics
  • PDF
Loading

Answer to Dermacase continued from page 749

3. Porphyria cutanea tarda

Porphyrias are genetic metabolic disorders resulting from deficient or absent enzymes in heme biosynthesis (which primarily occurs in bone marrow erythroblasts and hepatocytes).1,2 Porphyrias can be classified into acute hepatic porphyrias and nonacute porphyrias. In general, acute porphyrias are associated with neurologic symptoms, whereas nonacute subtypes are associated with cutaneous photosensitivity to UV radiation in the Soret band (400 to 410 nm). Accumulation of porphyrins or porphyrin precursors, combined with exposure to UV radiation, results in the production of reactive oxygen species that destroy cell membranes and cause cell lysis.1–3 Acute hepatic porphyrias involve heme pathway dysregulation, while chronic hepatic porphyrias result in porphyrin accumulation4 (Table 11,2,5,6). Porphyria can be an indicator of and is often associated with underlying systemic disease resulting in considerable morbidity and mortality if it goes undiagnosed or untreated. However, recognizing this condition can be challenging without clinical suspicion of the entity.

View this table:
  • View inline
  • View popup
Table 1

General overview of heme synthesis

Acute hepatic porphyrias

Acute hepatic porphyrias include intermittent acute porphyria, aminolevulinic acid dehydratase deficiency porphyria, hereditary coproporphyria, and variegate porphyria. Porphobilinogen deaminase deficiency is rarely seen before puberty1,5 (Table 21,2,5,7). With the exception of variegate porphyria, acute hepatic porphyrias typically present with systemic symptoms rather than cutaneous findings.

View this table:
  • View inline
  • View popup
Table 2

Overview of acute hepatic porphyrias

Nonacute porphyrias

Nonacute porphyrias are further subclassified into erythropoietic porphyrias (ie, congenital erythropoietic porphyria and erythropoietic protoporphyria) and chronic hepatic porphyrias (ie, porphyria cutanea tarda and hepatoerythropoietic porphyria) as summarized in Tables 3 and 4, respectively.1,2,5,7 These nonacute porphyrias demonstrate cutaneous manifestations and systemic findings, but are typically not associated with any neurologic symptoms.

View this table:
  • View inline
  • View popup
Table 3

Overview of nonacute erythropoietic porphyrias

View this table:
  • View inline
  • View popup
Table 4

Overview of nonacute hepatic porphyrias

Discussion

Porphyria cutanea tarda (PCT) is the most common porphyria. History and clinical examination reveal photosensitivity, skin fragility, and bullae formation, as well as healed scars with milia formation and hyper-pigmentation on photodistributed regions of the body, particularly the dorsa of the hands and arms, and, less commonly, hypertrichosis and sclerodermoid skin changes.5 Clinical symptoms and a positive urinary porphyrin profile are often adequate to make the diagnosis of PCT.5 Porphyrin excretion ceases in the remission phase.2 Uroporphyrinogen decarboxylase activity in erythrocytes can also be measured in some laboratories. A skin biopsy is considered unnecessary; however, histologic examination will demonstrate subepidermal, cell-poor bullae with festooning of the dermal papillae.5

Differential diagnoses for porphyrias include other blistering disorders such as polymorphic light eruptions, bullous lupus erythematosus, epidermolysis bullosa acquisita, photoinduced bullous drug reactions, solar urticaria, and hydroa vacciniforme. All of these conditions have normal (ie, negative) urine, fecal, and serum porphyrin levels.

Management of PCT includes UV protection, avoidance of triggers (the most common being excessive alcohol consumption or estrogens), biweekly phlebotomy (ie, approximately 500 mL every 2 weeks) to reduce serum ferritin, and treatment of underlying conditions (eg, hepatitis, hemochromatosis, HIV). Low-dose hydroxychloroquine or chloroquine (125 mg twice weekly) to chelate porphyrins is also useful, but ineffective in patients with associated hemochromatosis.1,2,5–7 Alcohol consumption is associated with flares in porphyria as the ethanol molecule decreases the activity of several enzymes including aminolevulinic acid dehydratase, uroporphyrinogen decarboxylase, coproporphyrinogen oxidase, and ferrochelatase.4 We suspect that substantial alcohol intake (ie, 2 to 4 alcoholic beverages per day) precipitated PCT in our patient.

Finally, it is important to distinguish between acute and nonacute porphyrias, as the former are associated with substantial morbidity, such as neurologic decline (eg, paralysis), respiratory failure, coma, and possibly death, if acute attacks are inadequately managed. Medical history and biochemical porphyrin profiles will help distinguish among the various forms of porphyria. In the future, advances in molecular genetics might be useful for rapid diagnosis and identification of carriers of inherited porphyrias.1

Footnotes

  • Competing interests

    None declared

  • Copyright© the College of Family Physicians of Canada

References

  1. ↵
    1. Sassa S
    . Modern diagnosis and management of the porphyrias. Br J Haematol 2006;135(3):281-92.
    OpenUrlCrossRefPubMed
  2. ↵
    1. Puy H,
    2. Gouya L,
    3. Deybach JC
    . Porphyrias. Lancet 2010;375(9718):924-37.
    OpenUrlCrossRefPubMed
  3. ↵
    1. Lim HW
    . Pathogenesis of photosensitivity in the cutaneous porphyrias. J Invest Dermatol 2005;124(1):xvi-xvii.
    OpenUrlPubMed
  4. ↵
    1. Doss MO,
    2. Kuhnel A,
    3. Gross U
    . Alcohol and porphyrin metabolism. Alcohol Alcohol 2000;35(2):109-25.
    OpenUrlAbstract/FREE Full Text
  5. ↵
    1. Poblete-Gutiérrez P,
    2. Wiederholt T,
    3. Merk HF,
    4. Frank J
    . The porphyrias: clinical presentation, diagnosis and treatment. Eur J Dermatol 2006;16(3):230-40.
    OpenUrlPubMed
  6. ↵
    1. Murphy GM
    . The cutaneous porphyrias: a review. The British Photodermatology Group. Br J Dermatol 1999;140(4):573-81.
    OpenUrlCrossRefPubMed
  7. ↵
    1. Köstler E,
    2. Wollina U
    . Therapy of porphyria cutanea tarda. Expert Opin Pharmacother 2005;6(3):377-83.
    OpenUrlCrossRefPubMed
PreviousNext
Back to top

In this issue

Canadian Family Physician: 59 (7)
Canadian Family Physician
Vol. 59, Issue 7
1 Jul 2013
  • Table of Contents
  • About the Cover
  • Index by author
Print
Download PDF
Article Alerts
Sign In to Email Alerts with your Email Address
Email Article

Thank you for your interest in spreading the word on The College of Family Physicians of Canada.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Answer: Can you identify this condition?
(Your Name) has sent you a message from The College of Family Physicians of Canada
(Your Name) thought you would like to see the The College of Family Physicians of Canada web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Citation Tools
Answer: Can you identify this condition?
Patricia Ting, Stewart Adams
Canadian Family Physician Jul 2013, 59 (7) 753-755;

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Respond to this article
Share
Answer: Can you identify this condition?
Patricia Ting, Stewart Adams
Canadian Family Physician Jul 2013, 59 (7) 753-755;
Twitter logo Facebook logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One

Jump to section

  • Article
    • 3. Porphyria cutanea tarda
    • Acute hepatic porphyrias
    • Nonacute porphyrias
    • Discussion
    • Footnotes
    • References
  • Figures & Data
  • eLetters
  • Info & Metrics
  • PDF

Related Articles

  • Question: Can you identify this condition?
  • Google Scholar

Cited By...

  • No citing articles found.
  • Google Scholar

More in this TOC Section

Practice

  • Managing type 2 diabetes in primary care during COVID-19
  • Effectiveness of dermoscopy in skin cancer diagnosis
  • Spontaneous pneumothorax in children
Show more Practice

Dermacase

  • Question: Can you identify this condition?
  • Answer: Can you identify this condition?
  • Question: Can you identify this condition?
Show more Dermacase

Similar Articles

Navigate

  • Home
  • Current Issue
  • Archive
  • Collections - English
  • Collections - Française

For Authors

  • Authors and Reviewers
  • Submit a Manuscript
  • Permissions
  • Terms of Use

General Information

  • About CFP
  • About the CFPC
  • Advertisers
  • Careers & Locums
  • Editorial Advisory Board
  • Subscribers

Journal Services

  • Email Alerts
  • Twitter
  • LinkedIn
  • Instagram
  • RSS Feeds

Copyright © 2025 by The College of Family Physicians of Canada

Powered by HighWire