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When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome-18 deletion.
Dermatol Reports
June 2024
Department of Dermatology, University of Brescia, Spedali Civili Hospital, Brescia.
In this case study, we describe a 21-year-old man with erythropoietic protoporphyria who sought medical attention in April 2022 for diffuse edema and erythema of the hands. These symptoms had been present since childhood and usually occurred soon after sun exposure. The patient's medical history showed that chromosome 18's long arm had partially deleted.
View Article and Find Full Text PDFMurine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine.
Blood
September 2024
Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Article Synopsis
- X-linked sideroblastic anemia (XLSA) and X-linked protoporphyria (XLPP) are rare genetic diseases caused by mutations affecting the enzyme ALAS2, crucial for heme production, with XLSA resulting from loss-of-function and XLPP from gain-of-function mutations.
- Researchers created knockin mouse models using CRISPR-CAS9 to study these diseases along with a model for congenital sideroblastic anemia (CSA) linked to SLC25A38 mutations, allowing for in-depth examination of disease characteristics and responses to dietary vitamin B6.
- The study revealed varying sensitivities to pyridoxine deficiency across models, highlighting a unique lethal interaction between certain sideroblastic anemias and vitamin
Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature Review.
J Pediatr Hematol Oncol
October 2023
Departments of Bone Marrow Transplantation.
Background: Erythropoietic protoporphyria (EPP) is a rare inherited disease of heme biosynthesis resulting in the accumulation of protoporphyrin, characterized by liver failure in a minority of cases. Although liver transplant (LT) is the therapeutic strategy for advanced hepatic disease, it does not correct the primary defect, which leads to recurrence in liver graft. Thus, hematopoietic stem cell transplantation (HSCT) is an approach for treating EPP.
View Article and Find Full Text PDFAnnular elastolytic giant cell granuloma in a woman with metabolic syndrome.
Dermatol Online J
August 2022
Department of Dermatovenerology and Cosmetology, RUDN University, Moscow, Russia.
Annular elastolytic giant cell granuloma (AEGCG) is a rare granulomatous skin condition. It belongs to a group of skin and elastic fiber disorders. When it affects sun-exposed skin, it is also called actinic granuloma.
View Article and Find Full Text PDFErythropoietic Protoporphyria: You May Not Have Seen It, but It May Have Seen You.
Cureus
March 2022
Dermatology, Temple University Hospital, Philadelphia, USA.
Erythropoietic protoporphyria is a rare skin condition that commonly presents in childhood. We report a case of a 35-year-old Hispanic male with a history of sun sensitivity, presenting with complaints of immediate burning and itching of the skin on his face and upper extremities upon sun exposure. On examination, there was minimal face erythema and calluses over the knuckles.
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