Connecting the Dots of a Rare Connective Tissue Disease: Pseudoxanthoma Elasticum
| Autor: | Ashley L. Yenior, Richard J Presutti, Lorena C Costa, Jeff Nadwodny, George G.A. Pujalte |
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| Rok vydání: | 2021 |
| Předmět: |
Connective Tissue Disorder
medicine.medical_specialty Genetic counseling ABCC6 Dermatology connective tissue disorder Genetics medicine Family history intervention Genetic testing family history genetic counseling medicine.diagnostic_test biology business.industry General Engineering autosomal recessive Pseudoxanthoma elasticum medicine.disease Connective tissue disease Skin biopsy biology.protein business Family/General Practice multidisciplinary |
| Zdroj: | Cureus |
| ISSN: | 2168-8184 |
| Popis: | Pseudoxanthoma elasticum (PXE) is a rare, autosomal recessive connective tissue disease that manifests primarily in the skin, eyes, vasculature, and gastrointestinal tract. Most cases occur in women and are present in the third decade of life. Diagnosis is confirmed via skin biopsy or by genetic testing that reveals a variant ABCC6 gene. We present the case of a 68-year-old woman who came to the clinic to discuss her daughter’s diagnosis of PXE, specifically, what testing she and her family should pursue. A family pedigree revealed a strong family history of abdominal aortic aneurysm (AAA). Although PXE has not been directly related to AAA, this raised concern for familial connective tissue disease. It was recommended that all family members undergo AAA screening with ultrasound, but that not all family members warranted genetic testing. Patients diagnosed with PXE should establish care with specialists to monitor for adverse outcomes. |
| Databáze: | OpenAIRE |
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