Congenital Erythropoietic Porphyria
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چکیده
Congenital erythropoietic porphyria (CEP) is a rare cutaneous pophyria which presents with photosensitivity, complicated by presence of hemolytic anemia. There is no permanent cure and the treatment is supportive. A 3 day-old male baby was admitted with neonatal jaundice for phototherapy. The baby developed bullous lesions over both the feet within minutes of starting phototherapy(Fig.1). These lesions were prominently present over the toes and were filled with clear fluid. We observed the color of the urine to be pink. The baby had no hepatosplenomegaly or any evidence of hemolysis. A urine analysis showed the presence of uroporphyrin and coproporphyrin which are not usually detectable suggesting the diagnosis of CEP. A quantitative assay could not be done because of financial reasons. The lesions healed in 2 weeks time following which the patient was discharged with advice regarding photoprotection and regular follow up. The patient is now 3 months old and has not had any further episodes of blister formation.
منابع مشابه
Congenital erythropoietic porphyria: a case report.
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...
متن کاملIsotopic studies of the erythropoietic and hepatic components of congenital porphyria and 'erythropoietic' protoporphyria.
1. Labelled glycine and/or 6-aminolaevulinic acid (ALA) were administered to a child with congenital erythropoietic porphyria (Giinther’s disease), to three normal children and to three patients with erythropoietic protoporphyria. 2. The utilization of [I5N]ALA for the synthesis of faecal ‘urobilin’ in the congenital erythropoietic patient was normal. 3. This suggests there is no significant in...
متن کاملCongenital erythropoietic porphyria, diminished activity of uroporphyrinogen decarboxylase and dyserythropoiesis.
A 51 -yr-old white male with congenital erythropoietic porphyria (Gunther’s Disease) is described. The disease was first manifested in infancy and mutilating cutaneous photosensitivity eventually developed. The source of excess porphyrin production was a markedly dyserythropoietic bone marrow. The dyserythropoietic changes were most marked in the orthochromic and polychromatophilic normoblasts....
متن کاملErythropoietic (congenital) porphyria: A rare abnormality of the normoblasts.
ECENT STUDIES” 2, 3 have emphasized that in human beings, photosensitivity occurs as a result of two fundamentally different disturbances of porphyrin metabolism. In porphyria cutanea tarda, in which the excessive porphyrin formation is believed to take place in the liver, symptoms are seldom manifest before adult life.’ Its porphyria erythropoietica (congeisital, photosensitive), where large a...
متن کاملIdentification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria.
The porphyrias are heterogeneous disorders arising from predominantly inherited catalytic deficiencies of specific enzymes along the heme biosynthetic pathway. Congenital erythropoietic porphyria is a very rare disease that is inherited as an autosomal recessive trait and results from a profound deficiency of uroporphyrinogen III cosynthase, the fourth enzyme in heme biosynthesis. The degree of...
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