2,273 results match your criteria Porphyria Cutanea Tarda


Risk of Hepatocellular Carcinoma in Patients with Porphyria: A Systematic Review.

Cancers (Basel) 2022 Jun 15;14(12). Epub 2022 Jun 15.

Polistudium SRL, 20135 Milan, Italy.

Acute porphyrias are a group of metabolic disorders resulting in defective porphyrin synthesis and reduced heme production, which carries a risk of malignancy. Porphyrias are inborn defects in the heme biosynthesis pathway resulting in neurovisceral manifestations and cutaneous photosensitivity attacks with multi-systemic involvement. Its estimated prevalence nears 5 per 100,000 patients worldwide. Read More

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Epidermolysis bullosa acquisita.

An Bras Dermatol 2022 Jun 11. Epub 2022 Jun 11.

Department of Dermatology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

Epidermolysis bullosa acquisita is a rare autoimmune disease, characterized by the synthesis of anti-collagen VII autoantibodies, the main component of hemidesmosome anchoring fibrils. The antigen-antibody binding elicits a complex inflammatory response, which culminates in the loss of dermo-epidermal adhesion of the skin and/or mucous membranes. Skin fragility with bullae, erosions, and milia in areas of trauma characterizes the mechanobullous form of the disease. Read More

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Psychological Aspect and Quality of Life in Porphyrias: A Review.

Diagnostics (Basel) 2022 May 10;12(5). Epub 2022 May 10.

Dipartimento di Medicina Interna, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

The World Health Organization (WHO) describes "health" as a state of physical, mental, and social well-being and not merely the absence of disease or infirmity. Therefore, a biopsychosocial approach should be considered as an integral part of patients' management. In this review, we summarize the available data starting from 1986 on the biological, psychological, and social aspects of porphyrias in order to provide a useful tool for clinicians about the missing knowledge within this field. Read More

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Correction: Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study.

Orphanet J Rare Dis 2022 May 4;17(1):180. Epub 2022 May 4.

Norwegian Organisation for Quality Improvement of Laboratory Examinations (NOKLUS), Haraldsplass Deaconess Hospital, Bergen, Norway.

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Porphyria cutanea tarda treated with short-term high-dose hydroxychloroquine: a case report.

AME Case Rep 2022 25;6:19. Epub 2022 Apr 25.

Department of Dermatology, The First Affiliated Hospital of Dali University, Dali, China.

Background: Porphyria cutanea tarda (PCT) is a kind of porphyria, which is a rare metabolic disorder with skin damage as a manifestation. The disease is mainly caused by an inherited or acquired deficiency of uroporphyrinogen decarboxylase, the fifth enzyme in heme synthesis. It is manifested primarily in patients with elevated skin fragility and greater sensitivity to sunlight. Read More

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

J Dermatolog Treat 2022 Apr 6:1-3. Epub 2022 Apr 6.

Orlando Dermatology, Graduate Medical Education Consortium, Kansas City University, Orlando, FL, USA.

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. Read More

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The Porphyrias.

J Dtsch Dermatol Ges 2022 Mar;20(3):316-331

Department of Dermatology, Venereology and Allergology, University Hospital Göttingen, Göttingen, Germany.

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). Read More

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Forearm porphyrin levels evaluated by digital imaging system are increased in patients with systemic sclerosis compared with patients in pre-clinical stage.

Intractable Rare Dis Res 2022 Feb;11(1):1-6

Department of Rheumatology and Clinical Immunology, Graduate School of Medicine, Wakayama Medical University, Wakayama, Japan.

We hypothesized that changes in skin characteristics on the forearm could be useful for early diagnosis of systemic sclerosis (SSc). We used VISIA digital imaging system to investigate this possibility for the first time. Twenty-eight Japanese patients who were diagnosed with typical or very early diagnosis of SSc (VEDOSS) were enrolled in this study, and ten age- and gender-matched patients with other disorders were included as a control group. Read More

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February 2022

Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study.

Orphanet J Rare Dis 2022 02 22;17(1):72. Epub 2022 Feb 22.

Norwegian Organisation for Quality Improvement of Laboratory Examinations (NOKLUS), Haraldsplass Deaconess Hospital, Bergen, Norway.

Background: Porphyria cutanea tarda (PCT) is a skin disorder caused by a defect in the liver enzyme uroporphyrinogen decarboxylase and is associated with hepatitis C virus infection, high alcohol intake, smoking and iron overload. Data on the long-term morbidity of PCT is lacking.

Methods: We conducted a nationwide matched cohort study over a 24-year period. Read More

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February 2022

Not Only Skin Deep-A Rare Case of Porphyria Cutanea Tarda With Corneal Opacity Presenting Along With Scleroderma With Interstitial Lung Disease.

J Clin Rheumatol 2021 Dec;27(8S):S804-S805

From the Department of Rheumatology & Clinical Immunology, Medanta-The Medicity, Gurgaon, Haryana, India.

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December 2021

Facial hyperpigmentation and crusted papules on the hands.

JAAD Case Rep 2022 Feb 19;20:23-25. Epub 2021 Nov 19.

Department of Dermatology, Yale School of Medicine, New Haven, Connecticut.

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February 2022

Multiple focal fatty changes in the liver in patients with porphyria cutanea tarda: A case series and review of the literature.

J Clin Ultrasound 2021 Dec 9. Epub 2021 Dec 9.

Department of Gastroenterology and Medicine, Fukuoka University, Faculty of Medicine, Fukuoka, Japan.

Porphyria cutanea tarda (PCT) is commonly diagnosed in cases where multiple hyperechoic nodules are observed in the liver. Pathologically, these nodules associated with PCT are focal fatty deposits. We report here, seven cases of PCT with fatty changes over multiple foci in the liver. Read More

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December 2021

The historical differential diagnosis of the disease that afflicted Aleijadinho, the famous 18th century Brazilian sculptor.

Arq Neuropsiquiatr 2021 12;79(12):1138-1144

Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Rio de Janeiro RJ, Brazil.

Background: The famous Brazilian Baroque sculptor named Antônio Francisco Lisboa, known as "Aleijadinho" (1738-1814), suffered from a deforming disease of the lower and upper limbs. The condition was characterized by atrophy, paresis and amputation. His face was also affected, with inflammation of the eyelids, deviation of the labial commissure, drooping of the chin and lower lip, giving him a sinister expression. Read More

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December 2021

Hydroxychloroquine: An Essential Drug in Dermatology and Its Controversial Use in COVID-19.

Actas Dermosifiliogr 2021 Nov 26. Epub 2021 Nov 26.

Dermik, Clínica Dermatológica Multidisciplinar, Barcelona, Spain.

Hydroxychloroquine is an antimalarial drug with immunomodulatory, anti-inflammatory, antibacterial, and antiviral properties. It has a good safety profile, can be used in children and in pregnant and breastfeeding women, and does not suppress the immune system. Regular screening for retinopathy, one of the drug's most feared adverse effects, is necessary. Read More

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November 2021

The effects of alcohol and illicit drug use on the skin.

Clin Dermatol 2021 Sep-Oct;39(5):772-783. Epub 2021 May 21.

Department of Dermatology, University of Connecticut School of Medicine, Farmington, Connecticut, USA. Electronic address:

Early identification of cutaneous manifestations of alcohol and illicit drug use can aid in the diagnosis and management of these uses, as well as their sequelae. In addition, the effects of alcohol and illicit drug use on the skin can result in significant morbidity. Alcohol misuse can present with jaundice, pruritus, pigmentary alterations, urticaria, hair and nail changes, and oral changes. Read More

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November 2021

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

BMJ Case Rep 2021 Oct 19;14(10). Epub 2021 Oct 19.

Divyadrishti Eye Centre, Patna, India.

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. Read More

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October 2021

Evolution of HCV associated porphyria cutanea tarda after HCV sustained virologic response by direct acting antivirals.

Gastroenterol Hepatol 2022 Apr 22;45(4):249-255. Epub 2021 Sep 22.

Service of Infectious Diseases and Internal Medicine, Hospital Universitario de la Princesa, IIP, Universidad Autónoma de Madrid, Madrid, Spain.

Objectives: Porphyria cutanea tarda (PCT) is common and usually associated with HCV chronic infection and HFE polymorphisms. Since DAA IFN-free regimens availability, SVR for HCV is nearly a constant and we wonder whether HCV SVR determine PCT evolution.

Methods: Retrospective observational study including patients with HCV associated PCT from the Gastroenterology and Infectious Diseases Departments at our Hospital, treated with DAA (Apr/2015-Apr/2017). Read More

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Alopecia Porphyrinica in a Patient with Chronic Hepatitis C.

Acta Med Port 2021 Sep 22. Epub 2021 Sep 22.

Dermatology and Venereology Department. Hospital de Santo António dos Capuchos. Centro Hospitalar Universitário Lisboa Central. Portugal.

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September 2021

The second Japanese case of porphyria cutanea tarda with a novel genetic mutation in UROD.

J Dermatol 2021 Nov 15;48(11):1802-1803. Epub 2021 Sep 15.

Division of Dermatology, Nippon Medical School Musashikosugi Hospital, Kawasaki, Japan.

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November 2021

University of British Columbia Rural and Remote Dermatology Telemedicine Service: A Case of Porphyria Cutanea Tarda.

J Cutan Med Surg 2021 Sep 9:12034754211045392. Epub 2021 Sep 9.

8166 Department of Dermatology and Skin Science, University of British Colombia, Vancouver, BC, Canada.

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September 2021

Iatrogenic Iron Overload Causing Porphyria Cutanea Tarda in a Patient With a Rare Nonsense Heterozygous UROD Gene Mutation.

Cureus 2021 Jul 6;13(7):e16215. Epub 2021 Jul 6.

Hospital Medicine, Sanford Health, Fargo, USA.

Porphyria cutanea tarda (PCT) is a rare dermatologic condition characterized by blistering of sun-exposed surfaces and elevated hepatic enzymes. It may infrequently occur as the primary presentation of underlying hemochromatosis. A 61-year-old female with anemia caused by chronic kidney disease and end-stage renal disease on hemodialysis presented with a bullous rash on her hands with associated pruritus. Read More

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[Hydroxychloroquine: An Essential Drug in Dermatology and Its Controversial Use in COVID-19].

Actas Dermosifiliogr 2022 Feb 2;113(2):166-175. Epub 2021 Aug 2.

Dermik. Clínica Dermatológica Multidisciplinar, Barcelona, España.

Hydroxychloroquine is an antimalarial drug with immunomodulatory, anti-inflammatory, antibacterial, and antiviral properties. It has a good safety profile, can be used in children and in pregnant and breastfeeding women, and does not suppress the immune system. Regular screening for retinopathy, one of the drug's most feared adverse effects, is necessary. Read More

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February 2022

Acquired erythropoietic uroporphyria secondary to myeloid malignancy: A case report and literature review.

Photodermatol Photoimmunol Photomed 2022 Jan 3;38(1):86-91. Epub 2021 Aug 3.

Department of Dermatology, Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona, Spain.

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January 2022

[Porphyria].

Internist (Berl) 2021 Sep 29;62(9):937-951. Epub 2021 Jun 29.

Porphyrie Zentrum, Klinikum Chemnitz gGmbH, Flemmingstr. 2, 09009, Chemnitz, Deutschland.

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. Read More

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September 2021

Porphyria Cutanea Tarda Associated with Hepatitis C.

N Engl J Med 2021 Jun;384(23):e86

University of Tennessee Health Science Center, Memphis, TN

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Scleral Compromise in Hereditary Porphyria Cutanea Tarda.

J Curr Ophthalmol 2021 Jan-Mar;33(1):91-94. Epub 2021 Mar 26.

Department of Ophthalmology, Hospital de Clínicas "José de San Martin", University of Buenos Aires, Buenos Aires, Argentina.

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. Read More

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

ACG Case Rep J 2021 May 14;8(5):e00581. Epub 2021 May 14.

Virginia Commonwealth University Medical Center, Department of Gastroenterology, Richmond, VA.

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. Read More

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Porphyria Cutanea Tarda.

Mayo Clin Proc 2021 05;96(5):1248-1249

Division of Dermatopathology, Department of Dermatology, Mayo Clinic, Rochester, MN. Electronic address:

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