Congenital erythropoietic porphyria: a case report.

Simple item page
dc.contributor.authorChiewchanvit, Sen_US
dc.contributor.authorMahanupab, Pen_US
dc.contributor.authorVanittanakom, Pen_US
dc.date.accessioned2009-05-27T19:07:26Z
dc.date.available2009-05-27T19:07:26Z
dc.date.issued1998-12-23en_US
dc.descriptionChotmaihet Thangphaet.en_US
dc.description.abstractCongenital erythropoietic porphyria is a rare autosomal recessive disorder of heme synthesis resulting from deficiency of uroporphyrinogen III synthase (UROIIIS). It is the most severe porphyria. The clinical manifestations are markedly variable due to the different mutation in the UROIIIS gene. We recently diagnosed a case of congenital erythropoietic porphyria. A 9-year-old boy presented with recurrent ulcers on the skin especially dorsum of the hands and feet since aged 3. The physical examination revealed ulcers on the dorsum of the feet, mutilation of the fingers, fluorescent erythrodontia, and darkening and hypertrichosis of the sun exposed area. Laboratory findings showed mild hemolysis, red urine, increased serum alkaline phosphatase level, and fluorescence of the red blood cell and urine. The histopathology was consistent with porphyria. The urine and plasma porphyrin levels confirmed the diagnosis of congenital erythropoietic porphyria. The administration of oral ultracarbon and topical zinc oxide has been tried.en_US
dc.description.affiliationDepartment of Medicine, Chiang Mai University, Thailand.en_US
dc.identifier.citationChiewchanvit S, Mahanupab P, Vanittanakom P. Congenital erythropoietic porphyria: a case report. Journal of the Medical Association of Thailand. 1998 Dec; 81(12): 1023-7en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/40514
dc.language.isoengen_US
dc.source.urihttps://www.mat.or.th/journal/all.phpen_US
dc.subject.meshChilden_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshPorphyria, Erythropoietic --diagnosisen_US
dc.titleCongenital erythropoietic porphyria: a case report.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
Files
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.79 KB
Format:
Plain Text
Description:
Download
Collections
Journal of the Medical Association of Thailand