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Forensic Science, Medicine and Pathology

, Volume 15, Issue 4, pp 667–670 | Cite as

Sudden death in acrogeria Gottron type

  • Aniello Maiese
  • Raffaele La Russa
  • Valentina Fazio
  • Alessandra De Matteis
  • Paola Frati
  • Vittorio FineschiEmail author
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Abstract

In this paper, we describe the case of a 29-year-old Caucasian male who was reported dead in his home. In 2010, a diagnosis of acrogeria, Gottron type was obtained by genetic analysis of a COL3A1 gene mutation. External examination showed typical characteristics of acrogeria, Gottron type. Autopsy showed a full-thickness laceration in the inferior vena cava wall, which caused hemorrhage and death. Samples of inferior vena cava were processed by Masson trichrome staining, which revealed a reduction in vessel wall thickness and a decrease in the amount of elastic fibers. An antibody reaction with BCL-2 was intensely positive. Our case is extremely rare in the medical field and in the world of scientific literature, both because the patient had a variant of acrogeria, Gottron type and because of the cause of death, which is not typical of Ehlers-Danlos syndrome. To the best of our knowledge, this very rare event has not previously been reported in the international scientific literature.

Keywords

Acrogeria, Gottron type Full-thickness laceration Inferior vena cava Death 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflicts of interest.

Ethical approval

This paper was approved by all authors.

Informed consent

Informed consent was obtained from the Judicial Authority for whom identifying information is included in this article.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Aniello Maiese
    • 1
  • Raffaele La Russa
    • 1
  • Valentina Fazio
    • 1
  • Alessandra De Matteis
    • 1
  • Paola Frati
    • 1
  • Vittorio Fineschi
    • 1
    Email author
  1. 1.Department of Anatomical, Histological, Forensic and Orthopaedic SciencesSapienza University of RomeRomeItaly

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