[Recurrent perforation of of the sigmoid colon associated with Ehlers-Danlos syndrome type IV].
Ehlers-Danlos syndrome type IV is a heritable disease of type III collagen metabolism. Most patients have a defect either in the synthesis or structure of type III procollagen, a finding consistent with the fact that these patients are prone to spontaneous rupture of the aorta and intestines, tissues rich in type III collagen. The diagnosis is suspected in a patient with a combination of clinical manifestations and family history, but it is confirmed only by culture of the patient's skin fibroblasts and the demonstration of a defect in type III collagen metabolism. We present a patient with Ehlers-Danlos type IV syndrome who developed a recurrent colon perforation, and discuss the surgical strategy to prevent recurrences.
Doblado Cardellach
B
B
Servicio de Cirugía General y Aparato Digestivo, Hospital de la Princesa, Madrid.
Figueroa Andolla
J M
JM
Martín Pérez
E
E
Delgado de Torres
S
S
Pérez García
A
A
Blasco Delgado
O
O
López-Yarto
J
J
Serrano Sánchez
P
P
D000328:Adult; D012809:Colon, Sigmoid / Q000473:pathology; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D007416:Intestinal Perforation / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D012008:Recurrence; D012810:Sigmoid Diseases / Q000209:etiology* / Q000473:pathology / Q000601:surgery