title: Erythropoietic protoporphyria without skin symptoms-you do not always see what they feel.
abstract: Erythropoietic protoporphyria (EPP) is an inherited disorder of the porphyrin metabolism that often remains undiagnosed in children. We report on a 4-year-old girl who had been suffering for 1 year from recurrent painful crises affecting her hands, feet, and nose following sun exposure. Objective skin lesions were absent until the age of 6. Porphyrin analysis revealed elevated free erythrocyte protoporphyrin (FEP) levels confirming the diagnosis of EPP. This illustrates that skin lesions might be completely absent in children affected with EPP, a fact that has only been reported once previously. Because EPP can manifest with few and unspecific cutaneous symptoms or no skin lesions at all, like in this patient, the diagnosis of EPP might be delayed or missed. EPP should be excluded in all photosensitive children, especially when discomfort is disproportionate to the extent of the cutaneous lesions. The clinic, pathophysiology, diagnosis, complications, and therapy of EPP are discussed.
authors: Department of Dermatology and Allergology, Wilhelmina Children's Hospital, University Medical Centre, G02.124, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.
authors: Anne L Y
authors: AL
authors: Lecluse
authors: Veronica C M
authors: VC
authors: Kuck-Koot
authors: Huib
authors: H
authors: van Weelden
authors: Vigfus
authors: V
authors: Sigurdsson
authors: Ingrid M
authors: IM
authors: Russel
authors: Jorge
authors: J
authors: Frank
authors: Suzanne G M A
authors: SG
authors: Pasmans
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D010787:Photosensitivity Disorders / Q000150:complications / Q000628:therapy; D046351:Protoporphyria, Erythropoietic / Q000150:complications / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D011524:Protoporphyrins / Q000097:blood / Q000378:metabolism; D012871:Skin Diseases / Q000097:blood* / Q000209:etiology*
chemical_list: D011524:Protoporphyrins
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