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Sudden death in acrogeria Gottron type

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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.

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References

  1. Gottron H. Familiare Akrogerie Arch Dermatol Syph. 1940;181:571.

    Article  Google Scholar 

  2. Beauregard S. Syndromes of premature ageing. Dermatol Clin. 1987;5:109–21.

    Article  CAS  Google Scholar 

  3. Jansen T. COL3A1 mutations leading to acrogeria (Gottron type). Br J Dermatol. 2000;142:178–9.

    Article  CAS  Google Scholar 

  4. Hjortshoj A, Heydenreich G. Acrogeria, case report. Dermatologica. 1977;154:335–9.

    Google Scholar 

  5. Sanghi S. A rare case of acrogeria. Med J Armed Forces India. 2013;69:406–8.

    Article  Google Scholar 

  6. Pope FM. COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. Br J Dermatol. 1996;135:163–81.

    Article  CAS  Google Scholar 

  7. Jansen T. COL3A1 mutation leading to acrogeria (Gottron type). Br J Dermatol. 2000;42:178–80.

    Article  Google Scholar 

  8. Hashimoto C. Acrogeria (Gottron type): a vascular disorder? Br J Dermatol. 2004;151:497–501.

    Article  CAS  Google Scholar 

  9. Ramirez F. Isolation and characterization of the human fibrillar collagen genes. Ann N Y Acad Sci. 1985;460:117–29.

    Article  CAS  Google Scholar 

  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.

    Article  CAS  Google Scholar 

  11. Janeczko RA. Nucleotide and amino acid sequences of the entire human alpha I (III) collagen. Nucleic Acids Res. 1989;17:6742.

    Article  CAS  Google Scholar 

  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.

    Article  CAS  Google Scholar 

  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.

    CAS  PubMed  Google Scholar 

Download references

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Authors and Affiliations

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

    Aniello Maiese, Raffaele La Russa, Valentina Fazio, Alessandra De Matteis, Paola Frati & Vittorio Fineschi

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  1. Aniello Maiese
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  2. Raffaele La Russa
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  3. Valentina Fazio
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  4. Alessandra De Matteis
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  5. Paola Frati
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  6. Vittorio Fineschi
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Correspondence to Vittorio Fineschi.

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Maiese, A., La Russa, R., Fazio, V. et al. Sudden death in acrogeria Gottron type. Forensic Sci Med Pathol 15, 667–670 (2019). https://doi.org/10.1007/s12024-019-00182-7

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  • DOI: https://doi.org/10.1007/s12024-019-00182-7

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