Skip to main content

Main menu

  • Home
  • COVID-19
    • Articles & podcasts
    • Blog posts
    • Collection
    • News
  • Content
    • Current issue
    • Past issues
    • Early releases
    • Collections
    • Sections
    • Blog
    • Infographics & illustrations
    • Podcasts
    • Classified ads
  • Authors
    • Overview for authors
    • Submission guidelines
    • Submit a manuscript
    • Forms
    • Editorial process
    • Editorial policies
    • Peer review process
    • Publication fees
    • Reprint requests
  • CMA Members
    • Overview for members
    • Earn CPD Credits
    • Print copies of CMAJ
    • Career Ad Discount
  • Subscribers
    • General information
    • View prices
  • Alerts
    • Email alerts
    • RSS
  • JAMC
    • À propos
    • Numéro en cours
    • Archives
    • Sections
    • Abonnement
    • Alertes
  • CMAJ JOURNALS
    • CMAJ Open
    • CJS
    • JAMC
    • JPN

User menu

Search

  • Advanced search
CMAJ
  • CMAJ JOURNALS
    • CMAJ Open
    • CJS
    • JAMC
    • JPN
CMAJ

Advanced Search

  • Home
  • COVID-19
    • Articles & podcasts
    • Blog posts
    • Collection
    • News
  • Content
    • Current issue
    • Past issues
    • Early releases
    • Collections
    • Sections
    • Blog
    • Infographics & illustrations
    • Podcasts
    • Classified ads
  • Authors
    • Overview for authors
    • Submission guidelines
    • Submit a manuscript
    • Forms
    • Editorial process
    • Editorial policies
    • Peer review process
    • Publication fees
    • Reprint requests
  • CMA Members
    • Overview for members
    • Earn CPD Credits
    • Print copies of CMAJ
    • Career Ad Discount
  • Subscribers
    • General information
    • View prices
  • Alerts
    • Email alerts
    • RSS
  • JAMC
    • À propos
    • Numéro en cours
    • Archives
    • Sections
    • Abonnement
    • Alertes
  • Visit CMAJ on Facebook
  • Follow CMAJ on Twitter
  • Follow CMAJ on Pinterest
  • Follow CMAJ on Youtube
  • Follow CMAJ on Instagram
Practice

Porphyria cutanea tarda presenting as milia and blisters

Long Hoai Nguyen and Karima Khamisa
CMAJ May 22, 2018 190 (20) E623; DOI: https://doi.org/10.1503/cmaj.180152
Long Hoai Nguyen
Faculty of Medicine, University of Ottawa, Ottawa, Ont.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Karima Khamisa
Faculty of Medicine, University of Ottawa, Ottawa, Ont.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • Figures & Tables
  • Responses
  • Metrics
  • PDF
Loading

A generally healthy 71-year-old woman was referred to dermatology for evaluation of a six-month history of large blisters on the dorsal surface of both hands, associated with mild pruritus and burning. When we examined the patient’s hands, we observed multiple vesicles and milia, as well as open bullae larger than 5 mm (Figure 1A). Her only medications were iron supplements taken orally for “fatigue” over the past few months. She consumed two alcoholic beverages per week. A skin biopsy showed a wide band of perivascular immunoreactivity consistent with porphyria cutanea tarda. Urine porphyrin analysis was positive for elevated levels of uroporphyrins.

Figure 1:
  • Download figure
  • Open in new tab
  • Download powerpoint
Figure 1:

(A) Milia, vesicles and erupted bullae larger than 5 mm with surrounding area of erythema on the dorsum of the hand of a 71-year-old woman with new-onset porphyria cutanea tarda. (B) Persistent bilateral milia, after therapeutic phlebotomy.

Porphyria cutanea tarda is an uncommon disease that most frequently occurs in men older than 40 years.1–3 It is caused by a deficiency in the enzyme uroporphyrinogen decarboxylase, which ultimately causes an elevation in uroporphyrinogens (highly photosensitive molecules that can cause damage to sun-exposed extremities). Porphyria cutanea tarda is precipitated by alcohol use, hemochromatosis (hereditary or acquired), hepatitis C virus and HIV infection, exposure to estrogen, or smoking.3

Porphyria cutanea tarda most commonly presents as bullae, vesicles, increased skin fragility, scarring, altered pigmentation and hypertrichosis.1,2 However, milia can be observed in porphyria cutanea tarda (Figure 1). Milia are white, keratinous cysts that may develop spontaneously or as secondary lesions associated with the healing process of other cutaneous lesions, such as pemphigus vulgaris, epidermolysis bullosa, second-degree burns, bullous pemphigoid and bullous lichen planus.4,5

We advised our patient to stop taking iron supplements and consuming alcohol, and to wear sunscreen on her extremities. She was started on a course of monthly therapeutic phlebotomy to remove excessive iron. After three months, her ferritin declined to 432 μg/L (from 997 μg/L at diagnosis; normal range 11–307 μg/L), with complete resolution of her blistering lesions. However, multiple milia persisted (Figure 1B) as the residual manifestation of porphyria cutanea tarda.

Clinical images are chosen because they are particularly intriguing, classic or dramatic. Submissions of clear, appropriately labelled high-resolution images must be accompanied by a figure caption. A brief explanation (300 words maximum) of the educational importance of the images with minimal references is required. The patient’s written consent for publication must be obtained before submission.

Footnotes

  • Competing interests: Karima Khamisa sits on the advisory boards for Alexion Pharma Canada, Novartis and Amgen Canada, and has received speaker’s fees from Alexion Canada, outside the current work. No other competing interests were declared.

  • This article has been peer reviewed.

  • The authors have obtained patient consent.

References

  1. ↵
    1. Handler NS,
    2. Handler MZ,
    3. Stephany MP,
    4. et al
    . Porphyria cutanea tarda: an intriguing genetic disease and marker. Int J Dermatol 2017;56:e106–17.
    OpenUrl
  2. ↵
    1. Ramanujam V-MS,
    2. Anderson KE
    . Porphyria diagnostics — Part 1: a brief overview of the porphyrias. Curr Protoc Hum Genet 2015;86:17.20.1–26.
    OpenUrl
  3. ↵
    1. Bissell DM,
    2. Anderson KE,
    3. Bonkovsky HL
    . Porphyria. N Engl J Med 2017;377:862–72.
    OpenUrl
  4. ↵
    1. Bolognia JL,
    2. Schaffer JV,
    3. Cerroni L
    . Dermatology. 4th ed. Philadelphia: Elsevier Saunders; 2018.
  5. ↵
    1. Habif TP
    . Clinical dermatology: a color guide to diagnosis and therapy. 6th ed. St. Louis (MO): Edinburgh; 2016.
PreviousNext
Back to top

In this issue

Canadian Medical Association Journal: 190 (20)
CMAJ
Vol. 190, Issue 20
22 May 2018
  • Table of Contents
  • Index by author

Article tools

Respond to this article
Print
Download PDF
Article Alerts
To sign up for email alerts or to access your current email alerts, enter your email address below:
Email Article

Thank you for your interest in spreading the word on CMAJ.

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.
Porphyria cutanea tarda presenting as milia and blisters
(Your Name) has sent you a message from CMAJ
(Your Name) thought you would like to see the CMAJ web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Citation Tools
Porphyria cutanea tarda presenting as milia and blisters
Long Hoai Nguyen, Karima Khamisa
CMAJ May 2018, 190 (20) E623; DOI: 10.1503/cmaj.180152

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
‍ Request Permissions
Share
Porphyria cutanea tarda presenting as milia and blisters
Long Hoai Nguyen, Karima Khamisa
CMAJ May 2018, 190 (20) E623; DOI: 10.1503/cmaj.180152
Digg logo Reddit logo Twitter logo Facebook logo Google logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One

Jump to section

  • Article
    • Footnotes
    • References
  • Figures & Tables
  • Responses
  • Metrics
  • PDF

Related Articles

  • No related articles found.
  • PubMed
  • Google Scholar

Cited By...

  • No citing articles found.
  • Google Scholar

More in this TOC Section

  • Azathioprine-induced severe anemia potentiated by the concurrent use of allopurinol
  • Schwannoma of the tongue
  • “Superscan” in diffusion-weighted imaging with background body suppression magnetic resonance imaging
Show more Practice

Similar Articles

Collections

  • Sections
    • Clinical Images
  • Topics
    • Hematology & transfusion medicine
    • Dermatology

Content

  • Current issue
  • Past issues
  • Collections
  • Sections
  • Blog
  • Podcasts
  • Alerts
  • RSS
  • Early releases

Information for

  • Advertisers
  • Authors
  • Reviewers
  • CMA Members
  • Media
  • Reprint requests
  • Subscribers

About

  • General Information
  • Journal staff
  • Editorial Board
  • Governance Council
  • Journal Oversight
  • Careers
  • Contact
  • Copyright and Permissions

Copyright 2021, Joule Inc. or its licensors. All rights reserved. ISSN 1488-2329 (e) 0820-3946 (p)

All editorial matter in CMAJ represents the opinions of the authors and not necessarily those of the Canadian Medical Association or its subsidiaries.

Powered by HighWire