Dialysis-associated pseudoporphyria successfully treated with vitamin D. Report of two cases.

Pseudoporphyria refers to a rare bullous dermatosis characterized by the clinical and histological features of porfiria cutanea tarda without abnormalities in porphyrin metabolism. The pathogenesis is heterogeneous and several exogenous factors may promote the bullous lesion formation, including medications, end stage renal disease, dialysis and tanning beds. Regarding treatment of this condition, in literature different therapy have been reported, such as glutathione and his precursor N-acetylcysteine, which presents anti-oxidant properties; however even more toxic drugs, such as chloroquine, are used. Moreover, in patients with drug-induced PP discontinuation of the offending agent, if possible, is a crucial aspect of the clinical management. We report two cases of dialysis patients presenting blisters on extremities, which healed with the avoidance of UV exposure and oral Vitamin D supplementation. Interestingly Vitamin D despite the lack of antioxidant properties led to a completely resolution of PP in both our patients within 30 days. A possible explanation of this finding is that Vitamin D, playing a key role in the regulation of serum Ca2+, can modulated cadherin-cadherin interactions and led to healing of pseudoporphyria bullous lesions. Finally we highlight the prominent role of UV-exposure in PP elicitation thus a good photoprotection is essential for all patients with pseudoporphyria.

Pseudoporphyria following self-medication with chlorophyll.

Two cases of pseudoporphyria are described in which the clinical features of porphyria cutanea tarda occurred in the absence of abnormalities in porphyrin metabolism. Both patients presented with skin fragility and bullae on the dorsal aspect of the hands. The patients consumed a commercial liquid chlorophyll drink in which we detected fluorescent compounds with characteristics typical of previously described chlorophyll derived photosensitisers.

Porfiria cutánea tardía: Reporte de 5 casos / Porphyria cutanea tarda: Five cases report

La PCT es la más común de las porfirias. Es una fotodermatosis que resulta de la deficiencia de la UPD, enzima perteneciente a la vía de síntesis del hemo. Presentamos la evolución de cinco casos de PCT; cuatro de PCT familiar y uno de PCT esporádica. En dos de los pacientes pertenecientes al grupo de PCT tipo II, encontramos como factor de riesgo, el consumo de alcohol, y en la paciente con PCT tipo I se detectó serología positiva para VHC. Todos los pacientes fueron tratados con cloroquina y flebotomías repetidas. Rápidamente se detectó mejoría clínica y bioquímica. Se observó que la porfirinuria continuó en descenso aún luego de suspendida la terapéutica. Tres de los pacientes con PCT familiar persisten en remisión clínica y con ausenciade recaídas tras más de 10 años de seguimiento. Aconsejamos en pacientes que padecen PCT la búsqueda de factores asociados (VHC, HIV, genes de HH) y desencadenantes exógenos (consumo excesivo de alcohol, hierro en la dieta e ingesta de estrógenos) que de ser controlados o evitados, junto con el tratamiento oportuno, contribuyen a un satisfactorio control de la enfermedad.

The porphyria cutanea tarda is the most frequent porphyria, it is a photodermatosis secondary to uroporphyrinogen decarboxylase deficiency; this enzyme belongs to the haem synthesis pathway. We present on this paper the evolution of five cases of PCT, four of them with familiar type and one of them sporadic type. In two patients belonging to PCT type II, we found alcohol addiction as a serious risk, while on the other patients PCT type I we found HCV positive serology. All patients were treated with chloroquine and phlebotomies. We could observe a good response not only clinical but biochemical. We could also see that the porphyrins urinary level continued descending once the drug was withdrew. Three of the patients with familiar PCT remains in clinical remission without any relapses in ten years of control. We advice all the patients that suffer PCT the detection of associated factors such as HCV, HIV, HH genes and the avoidance of the exogenous triggering factors such as excessive intake of alcohol, dietary iron and estrogen intake. Taking these advices into account, together with the correct treatment every patient can control this disease positively or satisfactorily.

Porfiria cutánea tarda en una paciente hemodializada / Porphyria cutanea tarda in a dialyzed female patient

Las alteraciones dermatológicas constituyen un hallazgo frecuente en los pacientes con insuficiencia renal. La porfiria cutánea tarda, la pseudoporfiria, la fototoxicidad o enfermedades ampollosas concurrentes pueden ocasionar la aparición de lesiones de contenido líquido en pacientes en hemodiálisis. Describimos el caso de una paciente en hemodiálisis que desarrolló lesiones ampollosas. Los hallazgos clínicos y de laboratorio eran inicialmente compatibles con la sospecha de pseudoporfiria, pero el hallazgo de unos niveles francamente elevados de porfirinas en suero, orina y heces confirmó el diagnóstico de porfiria cutánea tarda. La porfiria cutánea tarda y la pseudoporfiria presentan manifestaciones clínicas comunes. Sin embargo, los valores de porfirinas en plasma, orina y heces en la pseudoporfiria se encuentran normales o ligeramente elevados

Dermatological disorders are a frequent finding in patients with renal insufficiency. Porphyria cutanea tarda, pseudoporphyria, phototoxicity or concurrent bullous diseases may cause the appearance of lesions with liquid content in patients in dialysis. We describe the case of a female patient in dialysis who developed bullous lesions. The clinical and laboratory findings were initially compatible with the suspicion of pseudoporphyria, but the finding of some frankly elevated levels of porphyrins in serum, urine and feces confirmed the diagnosis of porphyria cutanea tarda. Porphyria cutanea tarda and pseudoporphyria present with common clinical manifestations. However, the levels of porphyrins in plasma, urine and feces in pseudoporphyria are normal or slightly elevated

[High-dose vitamin therapy as prophylaxis against porphyria cutanea uremica]. / Hochdosierte Vitamingabe zur Verhinderung einer Porphyria cutanea urämica?

50 Patients with chronic renal failure undergoing hemodialysis with or without porphyria cutanea tarda (PCT)-like skin changes were investigated. The total porphyrin amount in erythrocytes, plasma and dialysate and the distribution of porphyrin metabolites in plasma and dialysate were measured. In plasma, the group of patients with skin changes (referred as PCU = porphyria cutanea uremica) showed significantly increased uroporphyrin levels as compared to the non-symptomatic group. In addition, significant differences concerning the ratio uro-/coproporphyrin in plasma were shown: non-symptomatic patients with 0.87, as opposed to the PCU group with 3.7. Considerable differences between the level of vitamin ingestion were identified between the groups. Patients with PCU took distinctly less vitamins C, E and B than patients without symptoms.

[Pansclerotic porphyria cutanea tarda after chronic exposure to organic solvents]. / Pansklerotische Skleroporphyrie nach langjähriger Exposition gegenüber organischen Lösungsmitteln.

A 63 year old man developed generalized scleroderma with massive sclerotic areas, particularly in the abdominal region, four years after being diagnosed with porphyria cutanea tarda (PCT). He had almost daily exposure to organic solvents (benzene, trichlorethylene) for many years. The cutaneous fibrosis progressed dramatically leading to a pansclerosis, even though the uroporphyrin levels were borderline and the liver enzyme values were normal. Organic solvents are among those substances which can cause a cutaneous fibrosis. The unusually complicated clinical development in our patient was a combination of the two initial factors, the PCT and the long term exposure to organic solvents. The pansclerotic PCT was differentiated from a systemic sclerosis, a disabling pansclerotic morphea and a generalized morphea by means of histological examinations, the absence of a Raynaud phenomenon and the non-involvement of additional organs. Auto-antibodies typical for systemic sclerosis were negative. Using a medium dosage of UVA1 phototherapy and intensive physiotherapy, the progression of the skin disease was stopped and the sclerosis improved.

Porphyria cutanea tarda associated with an acute gastrointestinal bleed: the roles of supplemental iron and blood transfusion.

We describe a case of porphyria cutanea tarda (PCT) induced by blood transfusion and oral iron supplementation in an 80-year-old white woman. The patient experienced acute blood loss from 2 duodenal ulcers 2 months prior to presentation. During her hospitalization for the gastrointestinal bleed, her anemia was treated with blood transfusion, iron supplementation, and erythropoietin. Multiple blistering lesions developed on her skin 2 months after hospital discharge. Clinical and laboratory findings were consistent with a diagnosis of porphyria cutanea tarda. Treatment included discontinuation of iron therapy, local skin care, and phlebotomy, which prevented the development of more lesions. The roles of iron overload and chronic renal disease in the pathogenesis of the porphyria are discussed.

Cutaneous porphyria in a neonate with tyrosinaemia type 1.

UNLABELLED: A term infant born to consanguineous parents presented at birth with hypoglycaemia, thrombocytopenia, coagulopathy and hyperbilirubinaemia associated with polycythaemia due to delayed cord clamping. Despite phototherapy and correction of polycythaemia by partial exchange transfusion, coagulopathy, hypoglycaemia and conjugated hyperbilirubinaemia persisted, suggesting hepatic failure. Metabolic work-up led to the diagnosis of tyrosinaemia type 1 on day 4. Two--(2-nitro-4-trifluoromethylbenzoyl)--1,3 cyclohexanedione (NTBC) treatment, started on day 5, resulted in progressive clinical improvement and unambiguous biochemical response. Severe skin purpuric lesions occurred in areas exposed to phototherapy. These resolved slowly after its discontinuation. Urine analysis sampled just before and 6 days after starting NTBC treatment showed high levels of type 1 coproporphyrin isomers. Such findings do not seem directly related to tyrosinaemia type 1 where succinylacetone inhibits delta-aminolevulinic acid (delta-ALA) dehydratase and where the accumulation of delta-ALA results in neurotoxicity without photosensitivity. CONCLUSION: We describe a cutaneous form of porphyria in a neonate presenting with severe liver failure due to tyrosinaemia type 1. This porphyria is tentatively attributed to a secondary accumulation of coproporphyrins due to cholestasis, as reported in the bronze baby syndrome and recently described in neonates with purpuric phototherapy-induced eruption, rather than to a primary defect of porphyrin metabolism. The hypothesis of a direct effect of tyrosinaemia type 1 on porphyrin excretion is also discussed.