Porphyria cutanea tarda: an under-recognised manifestation of haemochromatosis.

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.

A Case Report of Porphyria Cutanea Tarda with Hepatitis-C Virus Co-infection.

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 diagnosis of porphyria cutanea tarda was considered on the basis of clinical features and high level of urine porphyrin level. She was put on hydroxychloroquine and combination drugs for Hepatitis-C virus with significant improvement after 3 months of therapy.

Ledipasvir/Sofosbuvir Is Effective as Sole Treatment of Porphyria Cutanea Tarda with Chronic Hepatitis C.

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. All were treated with ledipasvir/sofosbuvir at recommended doses and durations, according to their stage of liver disease. We measured plasma and urinary porphyrins at baseline and monthly for the first 12 months and at 16, 20, and 24 mos. We measured serum HCV RNA at baseline, 8-12, and 20-24 mos. Cure of HCV was defined as no detectable serum HCV RNA ≥ 12 weeks after the end of treatment (EOT). Remission of PCT was defined clinically as no new blisters or bullae and biochemically as urinary uro- plus hepta-carboxyl porphyrins ≤ 100 mcg/g creatinine. RESULTS: All 15 patients, 13 of whom were men, were infected with HCV genotype 1. 2/15 withdrew or were lost to follow-up. Of the remaining 13, 12 achieved cure of CHC; 1 had complete virological response, followed by relapse of HCV after ledipasvir/sofosbuvir but was subsequently cured by treatment with sofosbuvir/velpatasvir. Of the 12 cured of CHC, all achieved sustained clinical remission of PCT. CONCLUSIONS: Ledipasvir/sofosbuvir [and likely other direct-acting antivirals] is an effective treatment for HCV in the presence of PCT and leads to clinical remission of PCT without additional phlebotomy or low-dose hydroxychloroquine treatment. TRIAL REGISTRATION: ClinicalTrials.gov NCT03118674.

Between a rock and a hard place: management of systemic lupus erythematosus and porphyria cutanea tarda.

Porphyria cutanea tarda (PCT), the most common porphyria, is a rare photodermatosis characterized by fragile, hemorrhagic bullae and erosions with associated milia, hyperpigmentation, and hypertrichosis. SLE is a systemic connective tissue disease with approximately 80% of those affected manifesting cutaneous findings. These include malar and discoid rashes, photosensitivity, bullae, oral ulcerations, as well as a variety of other nonspecific findings. In this case, we illustrate a rare but established association between these two pathologic entities, and the resulting therapeutic challenge in treating a patient with both conditions. The concurrence of these two diseases poses therapeutic challenges with a paucity of evidence-based recommendations. Management with low dose weekly antimalarial therapy may be the appropriate middle ground in effectively treating the two co-morbid conditions especially in a patient with other underlying systemic conditions.

The Porphyrias.

The porphyrias are clinically variable and genetically heterogeneous, predominantly hereditary metabolic diseases, which are caused by a dysfunction of specific enzymes in heme biosynthesis. Here, we provide an overview of the etiopathogenesis, clinic, differential diagnosis, laboratory diagnostics and therapy of these complex metabolic disorders and cover in detail the most common form of porphyria worldwide (porphyria cutanea tarda), the most frequent childhood porphyria (erythropoietic protoporphyria), and the most common neurocutaneous porphyria (variegate porphyria).

Porphyria: awareness is the key to diagnosis!

Porphyrias are disorders of the haem biosynthesis which are encountered infrequently and which often present themselves atypically as a combination of gastrointestinal, neurologic and/or dermatologic symptoms. Although they are primarily caused by enzyme defects, inheritance patterns are mostly not evident. Considering all of these characteristics, it is not surprising that there is a long delay between the onset of symptoms and the diagnosis of the disease, with as possible consequences impaired quality of life, irreversible neurologic damage and even death. This review aims to increase the clinical suspicion of the three most common porphyrias in adults: acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT) and protoporphyria. Their relevant pathophysiology, clinical manifestations, diagnosis and treatment are discussed aiming at increasing the awareness of these diseases among physicians.

Sight-threatening progressive corneo-scleral involvement in porphyria cutanea tarda.

Porphyria cutanea tarda is the most common type of porphyria. It is associated with a deficiency of uroporphyrinogen decarboxylase enzyme responsible for heme synthesis. Clinical manifestations are predominantly dermatological and very rarely present with ocular involvement. Although scleral thinning in the interpalpebral area is a well-documented entity, sight-threatening corneal involvement is rarely described. We, herein report a case of a 58-year-old man who presented with ocular surface dryness, photophobia and mild redness. Slit-lamp biomicroscopy revealed corneo-scleral thinning in both eyes. The diagnosis was confirmed with a urine porphyrin test, serum iron and serum ferritin levels. We started him on conservative management after which he was lost to follow-up. He presented again after 6 years with total corneal opacification and progressive loss of vision in the right eye.