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Pseudoxanthoma Elasticum: Report of Two Cases.
Israel Antonio Esquivel-Pinto1, Maria Elisa Vega-Memije2, Araceli Alvarado-Delgadillo3
1Department of Dermatopathology, Dermatos Clinic, Mexico City, Mexico.
Elastic pseudoxanthoma, or Grönblad-Strandberg syndrome, is a rare genetic disorder caused by ABCC6 protein deficiency, leading to pathological mineralization. Early diagnosis and understanding current therapies are crucial for managing this connective tissue disease.
Area of Science:
- Genetics
- Biochemistry
- Dermatology
Background:
- Elastic pseudoxanthoma (EPX), also known as Grönblad-Strandberg syndrome, is a rare autosomal recessive disorder.
- It involves pathological mineralization of elastic fibers in connective tissues, affecting skin, blood vessels, and eyes.
Observation:
- The genetic defect is mapped to chromosome 16p13.1.
- The disease results from a lack of functional ABCC6 protein.
- This deficiency leads to extracellular accumulation of calcium and minerals in elastic tissue.
Findings:
- Two cases of elastic pseudoxanthoma are presented.
- Diagnostic criteria and the importance of early diagnosis are emphasized.
Implications:
- Highlights the significance of early diagnosis for effective management of EPX.
- Discusses current therapeutic approaches for Grönblad-Strandberg syndrome.
- Contributes to understanding the clinical presentation and genetic basis of EPX.
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