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Sudden death in acrogeria Gottron type.

Aniello Maiese1, Raffaele La Russa1, Valentina Fazio1

  • 1Department of Anatomical, Histological, Forensic and Orthopaedic Sciences, Sapienza University of Rome, Viale Regina Elena 336, 00161, Rome, Italy.

Forensic Science, Medicine, and Pathology
|November 2, 2019
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Summary

This study details a rare case of acrogeria, Gottron type, linked to a COL3A1 gene mutation. The patient died from inferior vena cava laceration, an unusual cause for this condition.

Keywords:
Acrogeria, Gottron typeDeathFull-thickness lacerationInferior vena cava

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Area of Science:

  • Genetics
  • Vascular Biology
  • Pathology

Background:

  • Acrogeria, Gottron type, is a rare genetic disorder characterized by premature aging and specific physical manifestations.
  • Mutations in the COL3A1 gene are associated with vascular fragility, often seen in Ehlers-Danlos syndrome.

Observation:

  • A 29-year-old male with diagnosed acrogeria, Gottron type (COL3A1 mutation) presented with a fatal inferior vena cava laceration.
  • Histological examination revealed reduced vessel wall thickness, decreased elastic fibers, and positive BCL-2 staining in the inferior vena cava.

Findings:

  • The patient's death was attributed to hemorrhage from a full-thickness laceration of the inferior vena cava.
  • The histopathological findings indicate significant structural abnormalities in the vessel wall consistent with connective tissue fragility.

Implications:

  • This case highlights an extremely rare presentation of acrogeria, Gottron type, with an atypical cause of death not typically associated with Ehlers-Danlos syndrome.
  • The findings underscore the potential for severe vascular complications in individuals with COL3A1 mutations, even with variants of acrogeria.
  • Further research into COL3A1-related disorders is warranted to understand the full spectrum of clinical manifestations and potential fatal outcomes.