Porphyria cutanea tardae

BACKGROUND: Despite its rarity, porphyria cutanea tarda (PCT) is globally recognized as the most common form of cutaneous porphyria. This study aims to review the underlying associations and treatment of PCT in Scotland. METHODS: We retrospectively reviewed data on 27 patients diagnosed with PCT between 1987 and 2022 at the Scottish Cutaneous Porphyria Service. RESULTS: Males slightly predominated (66.7%). The mean ± standard deviation (SD) age at diagnosis was 55...

Hepatitis C virus (HCV) is a well-recognized, major cause of various liver-related conditions such as chronic hepatitis, liver cirrhosis, and hepatocellular carcinoma. Apart from liver disease, chronic HCV infection is also associated with several extrahepatic manifestations that can lead to significant morbidity and mortality. These extrahepatic manifestations include essential mixed cryoglobulinemia (EMC), lymphomas, porphyria cutanea tarda, lichen planus, necrolytic acral erythema, glomerulonephritis, subclinical autoantibody formation, immune thrombocytopenia, thyroid disease, Sjögren's disease/sicca symptoms, diabetes mellitus, ocular diseases, musculoskeletal disorders, cardiovascular diseases, neurocognitive dysfunction, and leukocytoclastic vasculitis...

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Chronic kidney disease (CKD) is a progressive disease and has multiple clinical manifestations; when CKD reaches the end stage, at least one cutaneous manifestation appears due to some increased toxin levels or a constant proinflammatory state. Nonspecific manifestations include pruritus, xerosis, pigmentation disorders, acquired ichthyosis, purpuric spots, and nail disorders. Some specific manifestations are bullous dermatoses, acquired perforating dermatoses (APD), eruptive xanthoma, access site infections, calcifying disorders, and nephrogenic systemic fibrosis (NSF)...

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In this series of articles on comments and illustrations of the World Federation for Medicine and Biology (WFUMB) guidelines on contrast-enhanced ultrasound (CEUS), the topics on very rare focal liver lesions (FLL) are discussed. This article describes the diverse changes of focal liver lesions in peliosis hepatis and the typical changes in porphyria. Although the focus is on the appearance on ultrasound and CEUS, the clinical context is always considered. While peliosis may be a surprising finding on puncture, lesions in porphyria cutanea tarda may be typical visual diagnoses that obviate the need for biopsy...

Porphyria refers to a rare group of genetically inherited or acquired disorders that arise due to reduced metabolic activity of any of the enzymes in the haem biosynthetic pathway. Defect in any enzyme causes the presentation of symptoms of porphyria. The epidemiology of Acute Intermittent Porphyria (AIP) is complicated because of its rarity and delay in diagnosis. We present the case of a seven-year-old girl who presented with multisystem involvement; her symptoms were quadriparesis, hypertension, recurrent severe cyclic abdominal pain, and seizures...

We present a case of a woman who presented with a photosensitive skin rash and blisters on her extremities which did not improve with steroids. These were associated with polyarthralgia and a deranged liver function test on her admission. Further workup revealed that the patient has an undiagnosed porphyria cutanea tarda (PCT) and hereditary haemochromatosis. The patient later underwent regular venesections which improved her condition. This case report not only illustrates the challenge in diagnosing PCT but also aims to highlight the association between PCT and hereditary haemochromatosis...

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Hereditary hemochromatosis is an autosomal recessive condition with incomplete penetrance that is most commonly caused by a mutation in the HFE gene. Hereditary hemochromatosis can remain asymptomatic in some patients until triggered by certain events. Porphyria cutanea tarda is a condition that can lead to iron overload due to defective synthesis of heme and can cause the onset of adult-onset hereditary hemochromatosis. Herein, we present a case where a 77-year-old man presented with painful blisters on the sun-exposed areas of his hands and was diagnosed with porphyria cutanea tarda...

A 65-year-old woman successfully treated for human immunodeficiency virus (HIV) and Hepatitis C virus was diagnosed with porphyria cutanea tarda (PCT) and treated by phlebotomies. She developed extensive psoriatic skin lesions resistant to topical treatments and methotrexate. She then received the anti-interleukin-17 (IL-17) secukinumab (Cosentyx) which improved her psoriatic skin lesions. Unexpectedly, her PCT skin lesions healed, allowing phlebotomy discontinuation over 2 years. Without lesions, the patient decided to discontinue secukinumab, leading to the recurrence of psoriatic and PCT skin lesions, which were controlled upon therapeutical rechallenge...

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The article presents a description of a patient with chronic HCV infection and multiple extrahepatic manifestations, which manifested in dynamics and were recorded with a different sequence during 15 years of follow-up. In the patient we observed, the most frequently recorded extrahepatic manifestations were verified: porphyria cutanea tarda, mixed cryoglobulenemia, and utoimmune thyroiditis. Chronic HCV infection is often diagnosed in the presence of psoriasis was assessed as a paraneoplastic disease.

Porphyria cutanea tarda is a rare disorder of heme metabolism due to deficiency of the enzyme uroporphyrinogen decarboxylase which is manifested as some typical dermatological features and hepatic dysfunction. The Hepatitis-C virus co-infection is common and it can be aggravated by other environmental factors. We report a case of porphyria cutanea tarda in a 37-year-old woman, who presented with recurrent skin blisters and has concomitant Hepatitis-C virus infection. She was taking oestrogen containing oral contraceptive pill for a long duration...

The most common cutaneous manifestations of alcoholism include urticarial reaction, flushing, porphyria cutanea tarda, psoriasis, rosacea, seborrheic dermatitis, and pruritus. Here, we present a case of a young male with a history of alcohol abuse who presented with non-blanching, petechial, and perifollicular macular rash secondary to vitamin C deficiency in view of poor oral intake. The rash improved significantly with vitamin C supplementation. Although rare in developed countries, clinicians should keep vitamin C deficiency as a differential diagnosis for skin rash in alcohol consumers...

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BACKGROUND AND AIMS: Chronic hepatitis C [CHC] is a risk factor for porphyria cutanea tarda [PCT]. To assess whether ledipasvir/sofosbuvir is effective for treating both PCT and CHC, we treated patients with CHC + PCT solely with ledipasvir/sofosbuvir and followed them for at least 1 year to assess cure of CHC and remission of PCT. METHODS: Between September 2017 and May 2020, 15 of 23 screened PCT + CHC patients were eligible and enrolled...

INTRODUCTION: Several abnormalities of porphyrin metabolism leading to Porphyria Cutanea Tarda (PCT) have been described in early studies of End Stage Renal Disease (ESRD) patients, with a reported prevalence of 5-18%. We aimed to evaluate porphyrin levels and correlation to skin manifestations in modern dialysis era. METHODS: The study cohort included adult hemodialysis patients from a single center tertiary medical center. All patients underwent a full skin examination, completed the Dermatology Life Quality Index questioner, and provided a blood sample for porphyrin levels assessment...

Bullosis diabeticorum (BD) is an uncommon cutaneous manifestation of diabetes that can affect the upper limbs. It is characterized by spontaneous and painless non-inflammatory bloody blisters, which can progress to necrosis, requiring differential diagnosis to rule out other dermatological diseases, such as porphyria cutanea tarda, pseudoporphyria, epidermolysis bullosa acquisita, and pemphigoid, and vascular diseases, such as vasculitis, peripheral arterial disease, and Buerger's disease, among others. In this report, we describe a 77-year-old male patient with poorly controlled diabetes and hypertension who presented with spontaneous onset of lesions on the upper limbs, initially with bullous characteristics, progressing to necrotic ulcers after spontaneous rupture...

Pseudoporphyria (PP) is a relatively infrequent, photodistributed bullous dermatosis that clinically, histopathologically, and immunologically resembles porphyria cutanea tarda (PCT), but is not accompanied by porphyrin abnormalities in the serum, urine, or stool. It was initially described in patients with renal failure on dialysis as 'bullous dermatosis of hemodialysis.' Pseudoporphyria has been seen in patients with end-stage renal disease on hemodialysis. No treatment has proved efficacious in the management of pseudoporphyria...