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Erythropoietic protoporphyria in a child.

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Piotte, M Hassoun, A. Bourlond, André [UCL] Cornu, Guy [UCL]

Erythropoietic protoporphyria (EPP), a recently described form of porphyria, often remains unrecognized. We report the case of a 7-year-old girl admitted for investigation of photosensitivity since the age of 18 months without any significant objective cutaneous lesions. Clinical features, quantitative determinations of porphyrins in blood, urine and stools, ferrochelatase activity and cutaneous histopathology helped to confirm the diagnosis of EPP. A familial study was also performed. The clinical, laboratory and genetic characteristics of EPP are reviewed.

Document type Article de périodique (Journal article) – Case Reports, Journal Article
Publication date 1989
Journal information "European journal of pediatrics" - Vol. 148, no. 6, p. 507-9 (1989)
Peer reviewed yes
issn 0340-6199
Publication status Publié
Affiliation UCL
MESH Subject Child ; Female ; Humans ; Photosensitivity Disorders - etiology ; Porphyrias - blood - complications - diagnosis ; Protoporphyrins - blood
Links
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Bibliographic reference Piotte, M ; Hassoun, A. ; Bourlond, André ; Cornu, Guy. Erythropoietic protoporphyria in a child.. In: European journal of pediatrics, Vol. 148, no. 6, p. 507-9 (1989)
Permanent URL http://hdl.handle.net/2078.1/24813