Pseudoxanthoma Elasticum: Report of Two Cases
| Autor: | Andres Eduardo Campuzano-Garcia, Israel Antonio Esquivel-Pinto, Araceli Alvarado-Delgadillo, Maria Elisa Vega-Memije, Amairani Manriquez-Robles |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Pathology
medicine.medical_specialty Grönblad-Strandberg syndrome biology business.industry ABCC6 Connective tissue Disease Dermatology Elastorrhexis Pseudoxanthoma elasticum medicine.disease Dermatopathology medicine.anatomical_structure Dermis Case and Review RL1-803 biology.protein Medicine business Pathological Rare disease |
| Zdroj: | Case Reports in Dermatology Case Reports in Dermatology, Vol 13, Iss 1, Pp 230-237 (2021) |
| ISSN: | 1662-6567 |
| Popis: | Elastic pseudoxanthoma is a rare disease with autosomal recessive inheritance, also known as Grönblad-Strandberg syndrome, characterized by pathological mineralization of the elastic fibers in the connective tissue, affecting principally the dermis of skin, media, and intima of blood vessels and Bruch’s membrane of the eye. The genetic defect of the disorder is located on chromosome 16p13.1 and disease is caused by the lack of functional ABCC6 protein, which in turn causes extracellular accumulation and deposition of calcium and other minerals in the elastic tissue. In this article we present two cases of this rare disease. We emphasize, in the diagnostic criteria, the importance of its early diagnosis and the current therapeutic approaches. |
| Databáze: | OpenAIRE |
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