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
Images in Forensics
Part of the following topical collections:
  1. Topical Collection of Images in Forensics


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.


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


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.


  1. 1.
    Gottron H. Familiare Akrogerie Arch Dermatol Syph. 1940;181:571.CrossRefGoogle Scholar
  2. 2.
    Beauregard S. Syndromes of premature ageing. Dermatol Clin. 1987;5:109–21.CrossRefGoogle Scholar
  3. 3.
    Jansen T. COL3A1 mutations leading to acrogeria (Gottron type). Br J Dermatol. 2000;142:178–9.CrossRefGoogle Scholar
  4. 4.
    Hjortshoj A, Heydenreich G. Acrogeria, case report. Dermatologica. 1977;154:335–9.Google Scholar
  5. 5.
    Sanghi S. A rare case of acrogeria. Med J Armed Forces India. 2013;69:406–8.CrossRefGoogle Scholar
  6. 6.
    Pope FM. COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. Br J Dermatol. 1996;135:163–81.CrossRefGoogle Scholar
  7. 7.
    Jansen T. COL3A1 mutation leading to acrogeria (Gottron type). Br J Dermatol. 2000;42:178–80.CrossRefGoogle Scholar
  8. 8.
    Hashimoto C. Acrogeria (Gottron type): a vascular disorder? Br J Dermatol. 2004;151:497–501.CrossRefGoogle Scholar
  9. 9.
    Ramirez F. Isolation and characterization of the human fibrillar collagen genes. Ann N Y Acad Sci. 1985;460:117–29.CrossRefGoogle Scholar
  10. 10.
    Ala-Kokko L. Structure of cDNA clones coding for the entire pre-pro alpha (III) chain of human type III procollagen. Differences in protein structure from type 1 procollagen and conservation of codon preferences. Biochem J. 1989;260:509–16.CrossRefGoogle Scholar
  11. 11.
    Janeczko RA. Nucleotide and amino acid sequences of the entire human alpha I (III) collagen. Nucleic Acids Res. 1989;17:6742.CrossRefGoogle Scholar
  12. 12.
    Pope FM. Patients with Ehlers Danlos syndrome type IV lack type III collagen. Proc Natl Acad Sci U S A. 1975;72:1314–6.CrossRefGoogle Scholar
  13. 13.
    Stolle CA. Synthesis of an altered type III procollagen in a patient with type IV Ehlers Danlos syndrome. A structural change in the alpha1 (III) chain which makes the protein more susceptible to proteinases. J Biol Chem. 1985;260:1937–43.PubMedGoogle Scholar

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

Personalised recommendations