[Porphyria].

Porphyrias are caused by enzyme defects along the heme biosynthetic pathway. The first line diagnosis of porphyria is based on specific biochemical patterns of elevated porphyrins and porphyrin precursors in urine, feces, and blood. In clinically active disease accumulated porphyrin precursors and/or porphyrins lead to abdominal, neurologic, psychiatric, endocrine and cardiovascular symptoms, liver damage and/or skin photosensitivity.

Scleral Compromise in Hereditary Porphyria Cutanea Tarda.

Purpose: To report a case of bilateral scleral compromise in a male patient with hereditary porphyria cutanea tarda (PCT).

Methods: Case report.

Results: A 57-year-old male was referred to the Cornea Service at Hospital de Clinicas in Buenos Aires for bilateral scleral thinning.

Hepatitis-Induced Porphyria: Are Direct-Acting Antiviral Agents the Way of the Future?

Porphyria cutanea tarda (PCT) is the most common porphyria and has a strong association with hepatitis C virus (HCV) infection and iron overload. Previous HCV treatment regimens, including interferon with or without ribavirin, may precipitate PCT relapse. Few case reports have shown that newer oral therapies, such as direct-acting antiviral agents, can successfully treat PCT parallel with HCV treatment.

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.

Porphyria cutanea tarda exacerbation as a paraneoplastic syndrome in vaginal cancer resolved with chemoradiation.

. The effects of therapeutic ionizing radiation in patients with PCT are not well understood. We report the case of a 55 year-old woman with a past medical history significant for kidney transplant with rejection and removal on hemodialysis, Stevens-Johnson syndrome, porphyria cutanea tarda, undifferentiated connective tissue disease probably systemic lupus, and hepatitis C, who underwent curative chemoradiation treatment for a recurrent vaginal squamous cell carcinoma.

Porphyria cutanea tarda precipitated by ovarian stimulation during oocyte retrieval in a genetically susceptible female.

We report a case of 33-year-old female with underlying genetic susceptibility for familial porphyria cutanea tarda due to novel variant (c.636 + 2 dupT) unmasked by transient exposure to supraphysiological oestrogen concentrations following a single cycle of successful controlled ovarian stimulation for oocyte retrieval. Use of oral oestrogen in the form of oral contraceptive pills and hormone replacement therapy has been well known to trigger active porphyria cutanea tarda phenotype in susceptible women.

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies.

Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates. Porphyria cutanea tarda (PCT) is the most common porphyria and is due to deficient activity of uroporphyrinogen decarboxylase (UROD). Acute intermittent porphyria (AIP) is the most common of the acute hepatic porphyrias, caused by decreased activity of hydroxymethylbilane synthase (HMBS).

Kidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria.

Background: Acute Intermittent Porphyria (AIP) is a rare inherited autosomal dominant disorder of heme biosynthesis. Porphyria-associated kidney disease occurs in more than 50% of the patients with AIP, and end stage renal disease (ESRD) can be a devastating complication for AIP patients. The outcomes of AIP patients after kidney transplantation are poorly known.

Early presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tarda.

Asymptomatic aminotransferase elevation has a broad differential in the pediatric population. We report an 11-year old male with a history of urine discoloration found to have persistently elevated aminotransferases. Biochemical evaluation was notable for elevated uroporphyrin, consistent with porphyria cutanea tarda (PCT).

Hydroxychloroquine Alternatives for Chronic Disease: Response to a Growing Shortage Amid the Global COVID-19 Pandemic.

With the emergence of a novel severe acute respiratory syndrome coronavirus, investigators worldwide are scrambling to identify appropriate treatment modalities, develop accurate testing, and produce a vaccine. To date, effective treatment remains elusive. Chloroquine phosphate and hydroxychloroquine sulfate (HCQ), well-known antimalarial drugs effective in the treatment of systemic lupus erythematosus, rheumatoid arthritis, porphyria cutanea tarda, and chronic Q fever, are currently under investigation.

Diagnostic and therapeutic strategies for porphyrias.

Porphyrias are rare metabolic disorders. Lack of awareness and knowledge about the clinical features of porphyrias results in diagnostic and therapeutic delays for many patients. Delays in diagnosing and treating porphyrias can result in severe, progressive morbidity (and mortality) and psychological distress for patients.

Porphyria cutanea tarda associated with elevated serum ferritin, iron overload, and a bone morphogenetic protein 6 genetic variant.

A man aged 51 years was referred to dermatology for hand dermatitis. The dorsal hands and fingers had superficial erosions with pale pink shallow scars and milia suggestive of porphyria cutanea tarda (PCT). Urine and fecal studies were typical of PCT.