Hereditary uroporphyrinogen-decarboxylase deficiency predisposing porphyria cutanea tarda (chronic hepatic porphyria) in females after oral contraceptive medication

1985 ◽  
Vol 278 (1) ◽  
pp. 13-16 ◽  
Author(s):  
F. Sixel-Dietrich ◽  
M. Doss
Keyword(s):  
Oral Contraceptive ◽  
Porphyria Cutanea Tarda ◽  
Uroporphyrinogen Decarboxylase ◽  
Chronic Hepatic Porphyria ◽  
Decarboxylase Deficiency

Abstract #14: Oral Contraceptive-Induced Porphyria Cutanea Tarda

2003 ◽  
Vol 9 ◽  
pp. 5-6
Author(s):  
Manju Chandran ◽  
Roopa Sathyaprakash ◽  
R. Jeffrey Chang
Keyword(s):  
Oral Contraceptive ◽  
Porphyria Cutanea Tarda

Sight-threatening progressive corneo-scleral involvement in porphyria cutanea tarda

2021 ◽  
Vol 14 (10) ◽  
pp. e245160
Author(s):  
Sonali Prasad ◽  
Vidhata Vidhata ◽  
Subhash Prasad
Keyword(s):  
Porphyria Cutanea Tarda ◽  
Clinical Manifestations ◽  
Ocular Involvement ◽  
Slit Lamp ◽  
Uroporphyrinogen Decarboxylase ◽  
Progressive Loss ◽  
The Right ◽  
Lost To Follow Up ◽  
Test Serum

Porphyria cutanea tarda is the most common type of porphyria. It is associated with a deficiency of uroporphyrinogen decarboxylase enzyme responsible for heme synthesis. Clinical manifestations are predominantly dermatological and very rarely present with ocular involvement. Although scleral thinning in the interpalpebral area is a well-documented entity, sight-threatening corneal involvement is rarely described. We, herein report a case of a 58-year-old man who presented with ocular surface dryness, photophobia and mild redness. Slit-lamp biomicroscopy revealed corneo-scleral thinning in both eyes. The diagnosis was confirmed with a urine porphyrin test, serum iron and serum ferritin levels. We started him on conservative management after which he was lost to follow-up. He presented again after 6 years with total corneal opacification and progressive loss of vision in the right eye.

Complex pattern of alternative splicing in the normal uroporphyrinogen decarboxylase gene: implications for diagnosis of familial porphyria cutanea tarda

1994 ◽  
Vol 40 (10) ◽  
pp. 1884-1889 ◽  
Author(s):  
J F McManus ◽  
C G Begley ◽  
S Ratnaike
Keyword(s):  
Porphyria Cutanea Tarda ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Splice Acceptor ◽  
Uroporphyrinogen Decarboxylase ◽  
Consensus Sequences ◽  
Normal Individuals ◽  
Intron 1 ◽  
Donor And Acceptor ◽  
Multiple Alternative

Abstract We describe multiple alternative transcripts of uroporphyrinogen decarboxylase mRNA in normal individuals and patients with familial porphyria cutanea tarda. mRNA was reverse-transcribed, subjected to the polymerase chain reaction, and analyzed for nucleotide sequence. Seven different transcripts were characterized, and a cryptic splice acceptor site was identified in intron 1. In all mRNAs the exons abutted at previously defined exon boundaries. Characterization of the splice junctions in the genomic DNA showed that splice donor and acceptor sequences complied with the consensus sequences for these sites except for the splice acceptor sequences of exons 3 and 10. THese deviations were present in two normal individuals and one patient with familial porphyria cutanea tarda and were thus unable to explain the multiple aberrant uroporphyrinogen decarboxylase transcripts. We conclude that apparent deletions observed in transcripts derived from the uroporphyrinogen decarboxylase gene in patients with familial porphyria cutanea tarda should be interpreted with caution.

Familial Porphyria Cutanea Tarda: Hybridization Analysis of the Uroporphyrinogen Decarboxylase Locus

1988 ◽  
Vol 38 (5) ◽  
pp. 283-286 ◽  
Author(s):  
Joanna L. Hanseri ◽  
Peter O’Connell ◽  
Marc Romana ◽  
Paul-Henri Romeo ◽  
James P. Kushner
Keyword(s):  
Porphyria Cutanea Tarda ◽  
Hybridization Analysis ◽  
Uroporphyrinogen Decarboxylase
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