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May 1, 2026JAAD Case ReportsOpen Access

Lipodermatosclerosis-like clinical presentation with PXE-like histopathology in a patient with newly diagnosed vascular Ehlers-Danlos syndrome

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Authors

OGOlivia GrahamKSKavish SinghPCPeter Chow

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Overview

Case report reveals lipodermatosclerosis-like features with PXE-like histopathology in vascular Ehlers-Danlos syndrome, highlighting atypical skin manifestations of COL3A1 mutations.

Key Points

  • To describe an atypical clinical and histopathological cutaneous presentation leading to a diagnosis of vascular Ehlers-Danlos syndrome.
  • Clinical and histopathological evaluation of skin lesions mimicking lipodermatosclerosis and pseudoxanthoma elasticum in an individual patient.
  • Genetic analysis targeting the COL3A1 gene to confirm the underlying connective tissue disorder.
  • Identified a heterozygous pathogenic mutation in COL3A1 resulting in defective synthesis and secretion of type III collagen.
  • Demonstrated co-occurring features of lipodermatosclerosis-like presentation and pseudoxanthoma elasticum-like histopathology alongside classical vascular Ehlers-Danlos syndrome signs.

Cite This Study

Graham et al. (2026) studied this question.

synapsesocial.com/papers/6aace7c758bb3d1440249c8fhttps://doi.org/10.1016/j.jdcr.2026.04.039
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Vascular Ehlers-Danlos Syndrome: Current Understanding and Treatment Strategies2025 · 1 citations
  2. 2Asymptomatic Pulmonary Involvement as the Initial Presentation of Vascular Ehlers-Danlos Syndrome with a Novel <i>COL3A1</i> Frameshift Variant: A Case Report2026
  3. 3Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients2024 · 29 citations
  4. 4Spontaneous Colon Perforations Associated with a Vascular Type of Ehlers-Danlos Syndrome2014 · 15 citations
  5. 5A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features2022 · 4 citations