Results 11 to 20 of about 388 (104)

Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report [PDF]

Reports
Background and Clinical Significance: Congenital erythropoietic porphyria (CEP), also known as Günther disease, is a rare autosomal recessive porphyria caused by a deficiency of uroporphyrinogen III synthase, leading to the accumulation of phototoxic ...
Supriya Peshin, Ehab Takrori, Kaneez S. Khan, Bilal Rahimuddin, Sanjaya K. Upadhyaya, Pintu K. Gami, Sakshi Singal   +6 more
doaj   +2 more sources

New pharmacotherapies for the erythropoietic protoporphyrias: an analysis of trial protocols from a patient perspective [PDF]

Orphanet Journal of Rare Diseases
Background The erythropoietic protoporphyrias (EPP) are a group of ultra-rare (1:100.000) inborn errors of the heme biosynthesis characterised by painful phototoxic reactions in tissue exposed to visible light.
Cornelia Dechant, Sebastian Wäscher, Francesca Granata, Nicole Gusset, Mårten Pettersson, Mehmet Hakan Aksözen, Marc Höglinger, Rocco Falchetto, Jasmin Barman-Aksözen   +8 more
doaj   +2 more sources

Afamelanotide for Treatment of the Protoporphyrias: Impact on Quality of Life and Laboratory Parameters in a US Cohort [PDF]

Life
Background: Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders of heme biosynthesis characterized by severe cutaneous phototoxicity.
Rebecca K. Leaf, Hetanshi Naik, Paul Y. Jiang, Sarina B. Elmariah, Pamela Hodges, Jennifer Mead, John Trinidad, Behnam Saberi, Benny Tran, Sarah Valiante, Francesca Mernick, David E. Leaf, Karl E. Anderson, Amy K. Dickey   +13 more
doaj   +2 more sources

Treatment advances in Vitiligo: An Updated Review [PDF]

Dermatology Practical & Conceptual
Introduction Vitiligo is a common disorder of depigmentation caused by the progressive destruction of melanocytes that affects the skin, hair, and mucous membranes, clinically presenting as depigmented macules and leukotrichia.
Ishrat Binti Ismail, Yasmeen Jabeen Bhat, Mohd Shurjeel ul Islam   +2 more
doaj   +2 more sources

Afamelanotide in protoporphyria and other skin diseases: a review [PDF]

Advances in Dermatology and Allergology
Afamelanotide is a synthetic alpha melanocyte stimulating hormone presenting a higher activity than natural hormones. Its main properties are related to the enhanced production of eumelanin by agonistically binding to the melanocortin-1 receptor. Since 2016 afamelanotide has been especially applied to treat cases of erythropoietic porphyria (EPP ...
Polańska, Adriana, Wegner, Joanna, Nutbohm, Paula, Staubach, Petra, Żaba, Ryszard, Dańczak-Pazdrowska, Aleksandra, Jenerowicz, Dorota   +6 more
openaire   +3 more sources

From darkness to light: Case report on afamelanotide-treatment in a 9-year-old child with erythropoietic protoporphyria [PDF]

JAAD Case Reports
Anna-Elisabeth Minder, MD, Jasmin Barman-Aksözen, PhD   +1 more
doaj   +2 more sources

Letter to the Editor – Qualitative evidence submitted by patients to NICE: need for more quality or unrealistic and unfair requirements? [PDF]

Journal of Comparative Effectiveness Research
Rocco Falchetto, Jasmin Barman-Aksözen
doaj   +2 more sources

Clinical and dermoscopic changes of acquired melanocytic nevi of patients treated with afamelanotide [PDF]

Photochemical & Photobiological Sciences, 2021
AbstractBackgroundAfamelanotide (AFA) is a synthetic analogue of α-melanocyte-stimulating hormone that is approved for the treatment of patients affected by erythropoietic protoporphyria (EPP). AFA induces a “sun free” tanning and changes of acquired melanocytic nevi (AMN) that are generically described as “darkening”.ObjectivesTo assess clinical and ...
Arisi M., Rossi M., Rovati C., Tomasi C., Mori L., Laini L., Calzavara-Pinton P. G.   +6 more
openaire   +2 more sources

Indications and Limitations of Afamelanotide for Treating Vitiligo—Reply [PDF]

JAMA Dermatology, 2015
Vitiligo is characterized by depigmented patches of skin due to loss of cutaneous melanocytes. Many recent studies have demonstrated defects in the melanocortin system in patients with vitiligo, including decreased circulating and lesional skin levels of α-melanocyte-stimulating hormone (α-MSH).
Henry W, Lim, Pearl E, Grimes, Mark, Lebwohl   +2 more
openaire   +4 more sources

Afamelanotide for Erythropoietic Protoporphyria

New England Journal of Medicine, 2015
Erythropoietic protoporphyria is a severe photodermatosis that is associated with acute phototoxicity. Patients with this condition have excruciating pain and a markedly reduced quality of life. We evaluated the safety and efficacy of an α-melanocyte-stimulating hormone analogue, afamelanotide, to decrease pain and improve quality of life.We conducted ...
Langendonk, JG, Balwani, M, Anderson, KE, Bonkovsky, HL, Anstey, AV, Bissell, M, Bloomer, J, Edwards, C, Neumann, NJ, Parker, C, Phillips, J, Lim, HW, Hamzavi, I, Deybach, JC, Kauppinen, R, Rhodes, LE; id_orcid 0000-0002-9107-6654, Frank, J, Murphy, GM, Karstens, FPJ, Sijbrands, EJG, de, Rooij FWM, Lebwohl, M, Naik, H, Goding, CR, Wilson, JHP, Desnick, RJ   +25 more
openaire   +4 more sources