XXXX without the characteristic facial features: a case report.

@entity1 @entity548 @entity7261 @entity4243 @entity2100 @entity14884 @entity490 @entity9747 @entity2981 @entity1756
As a type of @entity4243 ( @entity4243 ), vascular EDs (vEDS) is typified by a number of characteristic facial features (eg, large eyes, small chin, sunken cheeks, thin nose and lips, lobeless ears). However, vEDs does not typically display @entity14884 and skin hyperextensibility, which are features typical of the more common forms of @entity4243 . Thus, colonic perforation or @entity1756 may be the first presentation of the disease. Because both complications are associated with a reduced life expectancy for individuals with this condition, an awareness of the clinical features of vEDS is important.Here, we describe the treatment of vEDS lacking the characteristic facial attributes in a 24-year-old healthy @entity1 who presented to the emergency room with @entity490 . Enhanced computed tomography revealed @entity7261 and perforation in the sigmoid colon. The lesion of the sigmoid colon perforation was removed, and Hartmann procedure was performed. During the surgery, the control of @entity548 was required because of @entity2100 . Subsequent molecular and genetic analysis was performed based on the suspected diagnosis of vEDS. These analyses revealed reduced type III collagen synthesis in cultured skin fibroblasts and identified a previously undocumented mutation in the gene for a1 type III collagen, confirming the diagnosis of vEDS. After eliciting a detailed medical profile, we learned his mother had a history of extensive @entity2981 since childhood and idiopathic hematothorax. Both were prescribed oral @entity9747 . One year after admission, the @entity1 was free of recurrent perforation.This case illustrates an awareness of the clinical characteristics of vEDS and the family history is important because of the high mortality from this condition even in young @entity1 . Importantly, genetic assays could help in determining the surgical procedure and offer benefits to relatives since this condition is inherited in an autosomal dominant manner.
