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Experimental and Approved Treatments for Skin Photosensitivity in Individuals With Erythropoietic Protoporphyria or X-Linked Protoporphyria: A Systematic Review

Biomedicine and Pharmacotherapy, 2023
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are characterized by skin photosensitivity caused by accumulation of protoporphyrin IX. We aimed to review the clinical evidence of efficacy and safety of skin photosensitivity treatments in individuals with EPP or XLP. We systematically searched MEDLINE, Embase, the Cochrane Library,
Ida M Heerfordt, Peter A Philipsen
exaly   +5 more sources

Annular Elastolytic Giant Cell Granuloma Associated to Late-Onset X-Linked Dominant Protoporphyria

Dermatology, 2013
X-linked dominant protoporphyria (XLDPP) is a genetic disorder that affects the synthesis of the heme group due to an increase in delta-aminolaevulinate synthase 2 (ALAS2) enzyme activity. Moreover, annular elastolytic giant-cell granuloma (AEGCG) is a rare reactive granulomatous dermatosis, usually associated with actinic damage.
Marta Santamariña, Enrique Gutiérrez-González, Francisco Javier García Martínez   +2 more
exaly   +4 more sources

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X‐linked dominant protoporphyria: The first reported Japanese case

The Journal of Dermatology, 2015
AbstractA 12‐year‐old boy with photosensitivity since 3 years of age presented with small concavities on both cheeks, the nasal root and the dorsal surface of both hands. According to the clinical features, erythropoietic protoporphyria (EPP) was suspected.
Yukiko, Ninomiya, Yasuhito, Kokunai, Hideaki, Tanizaki, Eijiro, Akasaka, Hajime, Nakano, Shinichi, Moriwaki   +5 more
openaire   +2 more sources

PD01 First UK report of pregnancy and childbirth in X-linked erythropoietic protoporphyria

British Journal of Dermatology, 2023
Abstract X-linked erythropoietic protoporphyria (XLEPP), an exceptionally rare form of cutaneous porphyria, is characterized by significant acute painful photosensitivity and a risk of both reduced bone mineral density and protoporphyric hepatopathy that may progress to liver failure.
Danja Schulenburg-Brand, James Powell, Pushplata Srivastava, Rebecca Swingler, Russell Peek   +4 more
openaire   +1 more source

PD13 Severe cutaneous manifestations in an Indian child with X-linked dominant erythropoietic protoporphyria

British Journal of Dermatology, 2023
Abstract Erythropoietic protoporphyria (EPP) is usually caused by autosomal dominant mutations in FECH: raised protoporphyrin levels cause itching, burning and erythema after sun exposure, with facial scarring and sometimes liver damage.
Sahana Srinivas, Celia Moss
openaire   +1 more source

Isoniazid Inhibits Human Erythroid 5-Aminolevulinate Synthase: Molecular Mechanism and Tolerance Study With Four X-Linked Protoporphyria Patients

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2017
Mutations in the C-terminus of human erythroid 5-aminolevulinate synthase (hALAS2), a pyridoxal 5′-phosphate (PLP)-dependent enzyme, are associated with two different blood disorders, X-linked sideroblastic anemia (XLSA) and X-linked protoporphyria (XLPP)
Gloria Cruz Ferreira, Vladimir Uversky, Hervé Puy   +2 more
exaly   +2 more sources

The EPP LIGHT Study: A Survey Describing the Burden of Erythropoietic Protoporphyria and X-Linked Protoporphyria

Blood
Background: Erythropoietic protoporphyria and X-linked protoporphyria (collectively referred to as EPP) are rare, genetic disorders of the heme biosynthetic pathway, leading to accumulation of the photoactive metabolite protoporphyrin IX (PPIX).
Hetanshi Naik, Manisha Balwani, Hilary H Colwell, Susan D Mathias, Kristen Wheeden, Chelsea Norregaard, Melanie Chin, William Savage   +7 more
openaire   +1 more source

Diffuse 18F-FDG Avidity in Liver Associated With X-Linked Protoporphyria on PET/CT

Clinical Nuclear Medicine, 2018
Abstract An 18F-FDG PET/CT was performed on a 43-year-old woman with photosensitive skin rash, abnormal liver function, and pancytopenia, which demonstrated prominent hepatomegaly, splenomegaly, and diffuse liver 18F-FDG avidity. The liver biopsy revealed intrahepatic cholestasis with biliary fibrosis resulting from the deposition of ...
Zhanli, Fu, Meng, Liu, Xueqi, Chen, Xing, Yang, Qian, Li   +4 more
openaire   +2 more sources

Bone marrow transplant for X‐linked protoporphyria with severe hepatic fibrosis

Pediatric Transplantation, 2015
AbstractXLP is an erythroid porphyria that results in variable cutaneous photosensitivity due to accumulation of protoporphyrin. The genetic defect in XLP is mutation of the gene ALAS2, resulting in gain of function for the erythroid enzyme 5‐aminolevulinate synthase 2.
David F, Butler, Kevin F, Ginn, James F, Daniel, Joseph R, Bloomer, Alexander, Kats, Nancy, Shreve, Gary D, Myers   +6 more
openaire   +2 more sources

Comment on ‘An open-label phase II study of bitopertin in adults and adolescents with erythropoietic protoporphyria or X-linked protoporphyria’

Clinical and Experimental Dermatology
We read with interest the phase II BEACON study by Ross et al. on biopterin for erythropoietic protoporphyria (EPP). While the observed PPIX reductions are encouraging, several unaddressed methodological issues undermine the validity of the efficacy conclusions.
Zhenzhen Xiao, Rui Li, Yingjian Tan
openaire   +1 more source