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[Grönblad-Strandberg syndrome from the angiological viewpoint]

C Rühlmann1, I Wittig, A Lochner

  • 1Medizinische Klinik und Poliklinik I, Universität Leipzig.

Deutsche Medizinische Wochenschrift (1946)
|April 16, 1998
PubMed
Summary

This case study highlights pseudoxanthoma elasticum (PXE), a rare connective tissue disease. Early diagnosis and treatment of vascular complications in PXE patients are crucial for improved outcomes.

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Area of Science:

  • Vascular Medicine
  • Dermatology
  • Genetics

Background:

  • Pseudoxanthoma elasticum (PXE), also known as Grönblad-Strandberg syndrome, is a rare inherited disorder affecting connective tissue.
  • It is characterized by the progressive calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system.

Observation:

  • A 42-year-old man presented with severe peripheral vascular disease, skin changes (peau d'orange, loss of elasticity, yellowish papules), and visual impairment.
  • Clinical findings included bilateral femoral artery occlusions, pelvic axis stenosis, diffuse kidney calcifications, angioid streaks, and characteristic skin biopsy findings of fragmented elastic fibers.

Findings:

  • Diagnostic investigations confirmed PXE, revealing significant arterial occlusive disease and systemic involvement.

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  • A thrombendarterectomy of the left superficial femoral artery resulted in improved leg perfusion and clinical amelioration.

    • Implications:

    • Cardiovascular complications, particularly peripheral arterial disease, are a significant concern in PXE patients.
    • Long-term angiological monitoring and timely intervention are essential for managing vascular manifestations of PXE.