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[Early pseudoxanthoma elasticum with severe cardiovascular involvement]
L Barrie1, J Mazereeuw-Hautier, H Garat
1Service de Dermatologie, CHU Rangueil, 1, avenue Jean Poulhès, 31403 Toulouse Cedex 4. mazereeuw-hautier.j@chu-toulouse.fr
Annales De Dermatologie Et De Venereologie
|April 27, 2004
Summary
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder. This case highlights significant intrafamilial clinical variability despite identical mutations, suggesting no clear genotype-phenotype correlation in PXE.
Area of Science:
- Genetics
- Dermatology
- Cardiology
Background:
- Pseudoxanthoma elasticum (PXE) is a rare inherited connective tissue disorder characterized by elastic tissue degeneration.
- Symptoms typically manifest in the second decade of life, affecting skin, eyes, and the vascular system.
Observation:
- A 15-year-old boy presented with classic cutaneous PXE signs and severe, early-onset cardiovascular involvement including stroke, hypertension, and thrombosis.
- His sister had only isolated cutaneous manifestations of PXE.
- Both siblings shared the same homozygous mutation identified through molecular analysis.
Findings:
- The patient exhibited rare, severe cardiac involvement presenting in infancy, contrasting with the typical later onset of vascular issues in PXE.
- Histological and molecular analyses confirmed PXE diagnosis in both siblings.
- Identical homozygous mutations were found in both siblings, despite disparate clinical presentations.
Implications:
- This case underscores the significant intrafamilial clinical variability observed in PXE.
- The findings challenge a direct genotype-phenotype correlation in PXE, suggesting other factors influence disease manifestation.
- Understanding this variability is crucial for predicting disease progression and managing patients with PXE.