Pseudoxanthoma Elasticum: report of a case with a novel gene mutation
| Autor: | Lisa Zaleski, Nicole Meunier |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Adult
0301 basic medicine Pathology medicine.medical_specialty genetic structures ABCC6 Dermatology medicine.disease_cause Novel gene 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine medicine Humans Pseudoxanthoma Elasticum Sequence Deletion Mutation biology business.industry General Medicine Pseudoxanthoma elasticum medicine.disease eye diseases Pathophysiology Angioid streaks 030104 developmental biology Increased risk biology.protein Female Multidrug Resistance-Associated Proteins business Calcification |
| Zdroj: | Meunier, Nicole; & Zaleski, Lisa. (2016). Pseudoxanthoma Elasticum: report of a case with a novel gene mutation. Dermatology Online Journal, 22(6). Retrieved from: http://www.escholarship.org/uc/item/22k631d0 |
| ISSN: | 1087-2108 |
| DOI: | 10.5070/d3226031320 |
| Popis: | Pseudoxanthoma Elasticum (PXE) is a rare autosomal recessive disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system. PXE is caused by mutations in the ABCC6 gene but the specific pathophysiology of this condition remains unknown. We present a case of a patient who was diagnosed with PXE after experiencing vision loss following minor ocular trauma. Our patient had angioid streaks in her right eye, skin laxity of the bilateral dorsal hands, and yellow papules coalescing on the posterior neck. The diagnosis of PXE was confirmed by histopathological examination. PCR amplification of the patient's ABCC6 gene demonstrated a novel gene mutation that is believed to be pathogenic. Patients with PXE are at an increased risk of visual and potentially life-threatening cardiovascular complications. Early diagnosis provides the patient a greater chance of reducing associated morbidity and mortality. |
| Databáze: | OpenAIRE |
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