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

Olivia Graham; Kavish Singh; Peter Chow; Urmi Khanna

doi:10.1016/j.jdcr.2026.04.039

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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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.

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Implication

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

Abstract

Vascular Ehlers-Danlos syndrome (vEDS) is a rare heritable connective tissue disorder caused by a heterozygous pathogenic variant in COL3A1, leading to defective synthesis and secretion of type III collagen.1 This defect can present with characteristics including thin, translucent skin, easy bruising, joint hypermobility, acrogeria, and spontaneous vascular and visceral rupture.2

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Cite This Study

Graham et al. (2026) studied this question.

synapsesocial.com/papers/6aace7c758bb3d1440249c8f https://doi.org/10.1016/j.jdcr.2026.04.039

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

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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