Article Text

Download PDFPDF
Pain, swelling and irritability in the sun: what is the diagnosis?
  1. Sinead Mary McGlacken-Byrne1,
  2. Lisa Dann1,
  3. Annette Murphy2,
  4. Edina Moylett1
  1. 1 Department of Paediatrics, Clinical Science Institute, National University of Ireland Galway, Galway, Ireland
  2. 2 Department of Dermatology, Galway University Hospital, Galway, Ireland
  1. Correspondence to Dr Sinead Mary McGlacken-Byrne, Department of Paediatrics, Clinical Science Institute, National University of Ireland Galway, Galway, Ireland; sineadmcglackenbyrne{at}gmail.com

Abstract

A 7-year-old boy presented with a 24-hour history of severe burning pain affecting both hands that had started within minutes of playing outdoors. His mother reported that he had been running his hands under cold water and shaking his hands and head to try and relieve the pain. On examination, there was swelling of his hands, eyelids and cheeks. His parents mentioned that his hands and face had ‘swollen in the sun’ every summer from the age of 2 years.

A 3-year-old girl presented with a 2-day history of left upper limb swelling following a day of prolonged sun exposure. Examination revealed non-pitting oedema extending from her left shoulder to hand with no associated tenderness, erythema or rash. Her mother reported six previous episodes of irritability following sun exposure during which she would cry and flap her hands ‘for hours’.

Oral steroids and antihistamines were prescribed in both cases with little effect. Findings of routine baseline investigations were normal in both cases. A radiograph of the upper limb in the second patient disclosed nothing abnormal.

Questions

  1. What is the most likely diagnosis for both patients?

    1. Venomous insect bites/stings

    2. Erythropoietic protoporphyria

    3. IgE-mediated reaction

    4. Mixed connective tissue disease

    5. Complement deficiency

  2. Which investigative approach will be most helpful?

    1. Complement function evaluation

    2. Physical urticarial evaluation

    3. Porphyria work-up

    4. Autoantibody screen

    5. Immunodeficiency work-up

  3. How would you manage these patients?

Questions Answers can be found on page 02.

  • paediatric practice
  • genetics
  • dermatology
View Full Text

Statistics from Altmetric.com

Footnotes

  • Contributors SMM-B performed the literature review for the paper with LD, led the writing of the paper, and revised drafts and revisions of the paper. SMM-B is the corresponding author for this study. LD revised drafts of the paper and significantly contributed to its writing. LD also was responsible for ensuring patient/parental consent for this study. AM is a Consultant Dermatologist who critically reviewed the paper, contributed to the writing of the paper and revised drafts of the paper. EM is a Consultant Paediatrician and Immunologist who critically reviewed the paper and its subsequent revisions, supervised the study, conceptualised the study, contributed to the writing of the paper and revised drafts of the paper. All authors have approved this final version for publication, and all agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.