Sight threatening complications in porphyria cutanea tarda

Zaborowski, Anthony G.; Paulson, G H; Peters, A.

doi:10.1038/sj.eye.6701362

Cited by 8 publications

(7 citation statements)

References 7 publications

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Section: Chronic Hepatic Porphyriasmentioning

confidence: 99%

“…Deposition of photoactive porphyrins near the eye causes lid scarring, ectropion, lacrimal scarring, scleromalacia, and corneal thinning . One case of corneal perforation has been reported . Owing to photoactivity of uroporphyrin deposited in the conjunctiva, pinguecula incidence is eight times higher and pterygium two times higher, compared to controls .…”

Section: Chronic Hepatic Porphyriasmentioning

confidence: 99%

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Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

et al. 2013

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The porphyrias are a group of disorders characterized by defects in the heme biosynthesis pathway. Many present with skin findings including photosensitivity, bullae, hypertrichosis, and scarring. Systemic symptoms may include abdominal pain, neuropsychiatric changes, anemia, and liver disease. With advances in DNA analysis, researchers are discovering the underlying genetic causes of the porphyrias, enabling family members to be tested for genetic mutations. Here we present a comprehensive review of porphyria focusing on those with cutaneous manifestations. In Part I, we have included the epidemiology, pathogenesis, presentation, diagnosis, and histopathology. Treatment and management options will be discussed in Part II. IntroductionThe porphyrias are a group of disorders characterized by defects in heme production, resulting in buildup of toxic heme precursors (Table 1). Cutaneous findings are common and include photosensitivity, painful burning, bullae, and scarring. Diagnosis requires laboratory measurement of heme precursors in plasma, urine, stool, and erythrocytes.Heme is made from glycine and succinyl-coenzyme A in eight steps (Fig. 1). Heme synthesis is ubiquitous throughout the body, but 85% occurs in bone marrow, becoming hemoglobin.1 Porphyrias are classified into two categories based on whether heme precursors build up in the liver (hepatic porphyrias) or bone marrow (erythropoietic porphyrias). Hepatic porphyrias are subdivided into acute and chronic subtypes, and tend to have secondary triggers (e.g., drugs, alcohol, hormone fluctuation, infection, and fasting). Acute hepatic porphyrias present with episodes (acute attacks) of abdominal or neurological symptoms caused by a genetic predisposition with a secondary metabolic trigger. Porphyria cutanea tarda (PCT), the only chronic hepatic porphyria, has a prolonged course of liver damage and photosensitivity. Erythropoietic porphyrias present in childhood with photosensitivity. While the main defect lies in the erythrocytes, the liver may also be involved. Materials and methodsA comprehensive literature search was initially performed using PubMed. Broad searches were performed using the terms "porphyria," "coproporphyria," and "protoporphyria" in the title, and "skin diseases, genetic" in the medical subject heading, but excluding for medical subject heading "acute intermittent." Articles

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Section: Chronic Hepatic Porphyriasmentioning

confidence: 99%

Section: Chronic Hepatic Porphyriasmentioning

confidence: 99%

Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

et al. 2013

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“…Clinical manifestations are predominantly dermatological with photoactive porphyrins depositing in the skin causing bullae, hyperpigmentation and hypopigmentation, pseudoscleroderma and hypertrichosis in sun-exposed areas 4. Ocular involvement, though rare, may manifest as lid scarring, ectropion,5 pingueculae, pterygium,6 acute scleritis with scleral necrosis,7 8 corneal thinning and corneal perforation 9…”

Section: Discussionmentioning

confidence: 99%

Boston keratoprosthesis for visual rehabilitation in porphyria cutanea tarda

et al. 2013

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A 56-year-old man, presented with bilateral chronic visual loss associated with generalised skin lesions. He had undergone multiple penetrating keratoplasties in his right eye for recurrent corneal infections and perforations. On ocular examination, his left eye was phthisical and his right eye had light perception vision owing to a failed and vascularised corneal graft. Dermatological evaluation revealed multiple hyperpigmented and hypopigmented lesions along with thickening of skin on nose, scalp and dorsum of hands. Skin biopsy showed focal areas of deposition of faint periodic acid Schiff-positive diastase-resistant perivascular material. The high-performance liquid chromatography assessment revealed increased presence of porphyrins in blood and urine, thus confirming a diagnosis of porphyria cutanea tarda. The patient's vision in the right eye improved after undergoing Boston type 1 keratoprosthesis along with general photoprotective measures for the exposed parts of the body.

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“…Eye involvement in porphyria is exceedingly rare and may manifest as lid scarring, ectropion,2 pingueculae, pterygium,3 acute scleritis with scleral necrosis,5 6 corneal thinning and corneal perforation 7. On review of past 10 years medical records at this tertiary care centre, we could find only four cases of porphyria with ocular complications.…”

Section: Introductionmentioning

confidence: 87%

Porphyria: varied ocular manifestations and management

2013

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On review of past 10 years medical records, we could find four typical cases of porphyria with rare ocular manifestations. Cases 1, 2 and 4 have presented with features suggestive of acute scleritis. Based on clinical, biochemical and dermatological evaluation, all these three cases were diagnosed to have congenital erythropoietic porphyria. Case 1 was initially managed with scleral patch graft which on subsequent melt was managed with double layered amniotic membrane grafting along with conjunctival advancement and lateral paramedian tarsorrhaphy in both the eyes. Cases 2 and 4 were managed conservatively with artificial tear drops and general protective measures. Case 3 was presented with multiple failed grafts due to repeated ulceration and infection. Owing to multiple failed grafts, Boston keratoprosthesis was done and the patient is doing well with stable kertaoprosthesis at the last follow-up visit.

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Sight threatening complications in porphyria cutanea tarda

Cited by 8 publications

References 7 publications

Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

Boston keratoprosthesis for visual rehabilitation in porphyria cutanea tarda

Porphyria: varied ocular manifestations and management

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