Congenital erythropoietic porphyria. An autopsy report

Bhutani, L. K.

doi:10.1001/archderm.110.3.427

Cited by 12 publications

(14 citation statements)

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“…The accumulation of the biologically inactive type I porphyrins, particularly uroporphyrin I, in the organism [22,23] is accompanied by the excretion of large amounts of porphyrins in urine and feces [18,20]. Uroporphyrin and other porphyrin metabolites deposited in skin induce a phototoxic, oxygendependent skin damage (type II reaction) characterized by subepidermal blistering with severe inflammation.…”

Section: Introductionmentioning

confidence: 99%

Congenital Erythropoietic Porphyria

Fritsch

Lang

Bolsen

et al. 1998

Skin Pharmacol Physiol

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Congenital erythropoietic porphyria (CEP) is one of the rarest autosomal-recessive disorders of the porphyrin metabolism caused by the homozygous defect of uroporphyrinogen III cosynthase. High amounts of uroporphyrin I accumulate in all cells and tissues, reflected by an increased erythrocyte porphyrin concentration and excretion of high porphyrin amounts in urine and feces. Dermal deposits of uroporphyrin frequently induce a dramatic phototoxic oxygen-dependent skin damage with extensive ulcerations and mutilations. Splenomegaly and hemolytic anemia are typical internal symptoms. Skeletal changes such as osteolysis and calcifications are frequent. Up to date 130 cases of CEP have been published. Splenectomy and erythrocyte transfusions showed some beneficial effect. Bone marrow transplantation was performed in 3 patients and stem cell transplantation in 1. The best therapy is the avoidance of sunlight. We give a report on our latest cases of CEP.

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Section: Introductionmentioning

confidence: 99%

Congenital Erythropoietic Porphyria

Fritsch

Lang

Bolsen

et al. 1998

Skin Pharmacol Physiol

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“…As a result of the affinity of uroporphyrin for calcium phosphate, porphyrin is deposited in the bones and teeth [1]. A pinkish or brown discolouration of the teeth (erythrodontia) seems to be specific for CEP.…”

Section: Discussionmentioning

confidence: 99%

“…While transfusions and intravenous haematin therapy may be useful on a short-term basis, they pose problems such as iron overload in long-term management. Splenectomy may be of some benefit but in general there seems to be little evidence for a specific, long-term effect [1,7].…”

Section: Discussionmentioning

confidence: 99%

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Ocular involvement in two symptomatic congenital erythropoietic porphyria

et al. 1993

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Congenital erythropoietic porphyria (Gunther disease, CEP) is a rare autosomal recessive disorder of haeme biosynthesis. It is characterized by extreme photosensitivity and the excretion of large amounts of uroporphyrin I and coproporphyrin I in the urine and coproporphyrin I in the faeces. We have diagnosed two cases of congenital erythropoietic porphyria, who were first cousins once removed. They had recurrent skin bullae, scarring on the face and hands, hirsutism, discoloured fluorescent teeth, red urine, increased haemolysis and grossly increased excretion of porphyrin. Both children had blepharitis and their sclera gave pink fluorescence under long wave ultraviolet light, mainly in the interpalpebral fissures. All the features of our two patients, except the ocular lesions, conformed to cases of CEP reported in the literature. We have encountered no other reports on ocular lesions in CEP since first described by Chumbley in 1977.

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“…Recurrence of bullae, erosions and fragility of sunexposed skin lead to severe mutilation of the face and hands [1,21]. Hyperpigmentation, hypertrichosis and erythrodontia are often seen.…”

Section: Discussionmentioning

confidence: 99%

Radiological features in congenital erythropoietic porphyria (Gunther's disease)

et al. 1988

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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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Congenital erythropoietic porphyria. An autopsy report

Cited by 12 publications

References 0 publications

Congenital Erythropoietic Porphyria

Congenital Erythropoietic Porphyria

Ocular involvement in two symptomatic congenital erythropoietic porphyria

Radiological features in congenital erythropoietic porphyria (Gunther's disease)

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