Literature DB >> 3340434

Radiological features in congenital erythropoietic porphyria (Gunther's disease). Report of 3 cases.

M Levesque1, P Legmann, A Le Cloirec, J C Deybach, Y Nordmann.   

Abstract

Gunther's disease or congenital erythropoietic porphyria is a rare and severe disorder comprising cutaneous and haemolytic symptoms. Photocutaneous lesions are responsible for scleroderma-like calcifications and deformities of the extremities visible on X-rays. Hemolytic manifestations lead to diffuse major osteopenia. Soft tissue calcifications of the fingers can be seen even in young patients. One case reported here is the first illustration of intracranial calcifications located on dura-mater and calvarium.

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Year:  1988        PMID: 3340434     DOI: 10.1007/bf02395763

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  17 in total

Review 1.  Skeletal changes in the anemias.

Authors:  J E Moseley
Journal:  Semin Roentgenol       Date:  1974-07       Impact factor: 0.800

2.  Congenital erythropoietic porphyria. An autopsy report.

Authors:  L K Bhutani; S K Sood; P K Das; D N Mulay; K C Kandhari; S G Deshpande
Journal:  Arch Dermatol       Date:  1974-09

3.  Porphyria erythropoietica in India. A review report on 21 cases.

Authors:  A K Chatterji; J B Chatterjea
Journal:  J Indian Med Assoc       Date:  1971-05-01

4.  Congenital erythropoietic porphyria. I. Case report, special studies and therapy.

Authors:  R G Haining; M L Cowger; D B Shurtleff; R F Labbe
Journal:  Am J Med       Date:  1968-10       Impact factor: 4.965

5.  Complete suppression of the symptoms of congenital erythropoietic porphyria by long-term treatment with high-level transfusions.

Authors:  S Piomelli; M B Poh-Fitzpatrick; C Seaman; L M Skolnick; W E Berdon
Journal:  N Engl J Med       Date:  1986-04-17       Impact factor: 91.245

Review 6.  Pathogenesis and treatment of photocutaneous manifestations of the porphyrias.

Authors:  M B Poh-Fitzpatrick
Journal:  Semin Liver Dis       Date:  1982-05       Impact factor: 6.115

Review 7.  Congenital erythropoietic porphyria.

Authors:  Y Nordmann; J C Deybach
Journal:  Semin Liver Dis       Date:  1982-05       Impact factor: 6.115

8.  Porphyria cutanea tarda. Diagnosis and management.

Authors:  M E Grossman; M B Poh-Fitzpatrick
Journal:  Med Clin North Am       Date:  1980-09       Impact factor: 5.456

9.  Congenital erythropoietic uroporphyria (Günther's disease) presenting in a middle aged man.

Authors:  M J Weston; D C Nicholson; C K Lim; K G Clark; A Macdonald; M A Henderson; R Williams
Journal:  Int J Biochem       Date:  1978

10.  Uroporphyrin I stimulation of collagen biosynthesis in human skin fibroblasts. A unique dark effect of porphyrin.

Authors:  G Varigos; J R Schiltz; D R Bickers
Journal:  J Clin Invest       Date:  1982-01       Impact factor: 14.808

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