Erythropoietic Protoporphyria Masquerading as Angioedema in a 4-Year-Old Female.docVIP

Original Article Erythropoietic Protoporphyria Masquerading as Angioedema in a 4-Year-Old Female Helen C. Wang, MD; Ejaz Yousef, MD Abstract Angioedema is a common presentation with a broad differential, including rare disorders with which an allergist must be familiar. Our objective was to report a case of swelling of the hands and feet mimick- ing angioedema with hepatomegaly in a 4-year-old girl. The patient was evaluated for painful swelling of the hands and feet after exposure to sun. Examination revealed edema and erythema of the extrem- ities and hepatomegaly. Laboratory evaluation included elevated liver transaminases and plasma pro- toporphyrin, with normal urine porphyrins. Liver biopsy confirmed the diagnosis of erythropoietic proto- porphyria, a disorder of heme biosynthesis in which patients may present with photosensitivity and angioedema. It is important for allergists to recognize this entity in patients with cutaneous disorders of unclear etiology in order to prevent possible life-threatening sequelae. Angioedema is a common presenting symptom among allergy practices.Angioedema is caused by increased vascular permeability in the subcuta- neous tissue of the skin and respiratory and gas- tosensitivity caused by cutaneous porphyrias. We 2 present a case report of a child with a swelling of hands and feet that mimicked angioedema and hepatomegaly, ultimately diagnosed as erythro- poietic protoporphyria (EPP). trointestinal tracts. Acute angioedema is most 1 often due to an immunoglobulin E (IgE)–mediated response to an inciting allergen and is classified as a type I hypersensitivity reaction. However, 1 Case Presentation there is a broad differential for angioedema, includ- ing hereditary and acquired disorders. One rare diagnosis that occurs in the pediatric population and that allergists must be familiar with is angioedema-like cutaneous findings due to pho- A 4-year-old previously healthyAfricanAmerican gir