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Case ReportOpen Access
Congenital Erythropoietic Porphyria : A Case Report
Chiewchanvit S 
,
Mahanupab P ,
Vanittanakom P
,
Mahanupab P ,
Vanittanakom P Congenital 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.
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.
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