[Diagnostic image (13). Erythropoietic protoporphyria].
In a five-year-old girl with photosensitivity (burning skin sensation after a sun bath) and purpura on the nose and the sides of the fingers erythropoietic protoporphyria was diagnosed, an autosomal dominant disease.
Krekels
G A
GA
Academisch Ziekenhuis, afd. Dermatologie, Postbus 5800, 6202 AZ Maastricht.
Neumann
H A
HA
D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D017121:Porphyria, Hepatoerythropoietic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D011693:Purpura / Q000209:etiology* / Q000473:pathology; D012872:Skin Diseases, Vesiculobullous / Q000209:etiology / Q000235:genetics*