PT  - JOURNAL ARTICLE
AU  - Sinead Mary McGlacken-Byrne
AU  - Lisa Dann
AU  - Annette Murphy
AU  - Edina Moylett
TI  - Pain, swelling and irritability in the sun: what is the diagnosis?
AID  - 10.1136/archdischild-2019-317384
DP  - 2021 Apr 01
TA  - Archives of disease in childhood - Education & practice edition
PG  - 102--106
VI  - 106
IP  - 2
4099  - http://ep.bmj.com/content/106/2/102.short
4100  - http://ep.bmj.com/content/106/2/102.full
SO  - Arch Dis Child Educ Pract Ed2021 Apr 01; 106
AB  - 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.QuestionsWhat is the most likely diagnosis for both patients?Venomous insect bites/stingsErythropoietic protoporphyriaIgE-mediated reactionMixed connective tissue diseaseComplement deficiencyWhich investigative approach will be most helpful?Complement function evaluationPhysical urticarial evaluationPorphyria work-upAutoantibody screenImmunodeficiency work-upHow would you manage these patients?Questions Answers can be found on page 02.