The porphyrias are diverse in pathophysiology, clinical presentation, severity, and prognosis, presenting a diagnostic and therapeutic challenge. Although not easily curable, the dermatological manifestations of these diseases, photosensitivity and associated cutaneous pathology, can be effectively prevented and managed. Sun avoidance is essential, and patient education regarding the irreversibility of photocutaneous damage is a necessary corollary. Beyond preventative measures, the care of fragile, vulnerable skin, and pain management, each of the porphyrias has a limited number of unique additional therapeutic options. Many of the treatments have been published only in small case series or anecdotal reports and do not have well-understood nor proven mechanisms of action. This article presents a comprehensive review of available therapeutic options and long-term management recommendations for the cutaneous porphyrias.
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http://dx.doi.org/10.1111/ijd.12016 | DOI Listing |
Eur J Case Rep Intern Med
January 2025
Sancaktepe State Hospital, Feriha Öz, Department of Internal Medicine, Istanbul, Turkey.
Introduction: Hepatoerythropoietic porphyria (HEP) is an uncommon autosomal recessive disorder marked by deficiencies in enzymes involved in heme biosynthesis. This results in the build-up of porphyrins and their precursors. Here, we describe a case study of a 17-year-old male who has experienced symptoms of porphyria since early childhood.
View Article and Find Full Text PDFItal J Dermatol Venerol
March 2025
Lymphoma and Chronic Lymphoproliferative Syndromes Unit, L. e A. Seràgnoli Institute of Hematology, University of Bologna, Bologna, Italy.
Mogamulizumab is a humanized monoclonal antibody with enhanced antibody-dependent cell-mediated cytotoxicity that targets chemokine receptor type. Several clinical trials and real-life experiences confirmed the efficacy and safety profiles of mogamulizumab as second-line therapy and beyond, and the biochemical- and dermatology-specific quality of life and physical functioning, with high treatment satisfaction. Systemic drugs are usually used in patients with resistant or advanced forms of cutaneous T-cell lymphomas (especially mycosis fungoides) or with Sézary Syndrome, while early-stage mycosis fungoides can be managed at least initially with local treatments.
View Article and Find Full Text PDFBMJ Case Rep
March 2025
Dermatology, All India Institute of Medical Sciences, Raebareli, Uttar Pradesh, India.
Congenital erythropoietic porphyria (CEP) also known as Gunther's disease is a subtype of porphyria. It is an autosomal recessive disorder caused by a mutation in the uroporphyrinogen III gene (URO III) coding for the enzyme UROS synthase, an essential enzyme in the heme synthesis pathway. The condition may present as non-immune hydrops in foetuses, dark-red urine-stained diapers in neonates and skin blistering and mutilation in sun-exposed areas in older children.
View Article and Find Full Text PDFHepatol Commun
March 2025
Department of Population Health Science and Policy, Center for Biostatistics, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.
Background: Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are characterized by the accumulation of protoporphyrin in the marrow, erythrocytes, plasma, skin, and liver, and present clinically with painful cutaneous phototoxicity. Liver abnormalities have been reported in over 25% of patients with EPP. Further characterization of liver involvement in protoporphyria is needed.
View Article and Find Full Text PDFDermatol Online J
August 2024
Department of Dermatology, King Abdullah Medical Complex, Jeddah, Saudi Arabia.
Bullous pemphigoid is an autoimmune blistering disease that is characterized by pruritus, cutaneous urticarial plaques, and tense bullae, with mucosal involvement. On histopathology, a subepidermal blister is predominantly evident with eosinophilic inflammatory infiltrates in the upper dermis. In a few bullous dermatoses, milia can manifest at the scar of blistering lesions or in non-lesional skin.
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