Sudden death in acrogeria Gottron type.
Forensic Sci Med Pathol
; 15(4): 667-670, 2019 Dec.
Article
em En
| MEDLINE
| ID: mdl-31673870
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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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Progéria
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Veia Cava Inferior
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Morte Súbita
Limite:
Adult
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Humans
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Male
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article