Case Reports
Ehlers-Danlos Type IV Syndrome in a Patient with Down Syndrome: Simple Co-Occurrence or True Association?

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ABSTRACT

Down syndrome, a common chromosome aneuploidy, has been associated with an increased incidence of cutaneous disorders. The simultaneous occurrence with Ehlers-Danlos syndrome (EDS) is rare. We report here the clinical case of a 19-year-old female patient with Down syndrome (trisomy 21) who was also affected by EDS type IV. She died from spontaneous bleeding due to rupture of nonaneurysmal abdominal aorta. Since the affected chromosomes in these two syndromes are different (21 and 2, respectively), the concomitant appearance of Down syndrome and EDS type IV in our patient, though clinically intriguing, most likely represents a co-occurrence. However, the possibility that a presently unknown link may exist between these syndromes cannot be ruled out.

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Case Report

A mentally retarded 19-year-old woman with a 1-week history of scabies was admitted for treatment to the Department of Dermatology, at the University Medical Center of Patras. Since her birth she had been hospitalized in a rehabilitation center for mentally retarded patients. Her parents and relatives could not be traced despite the concerted efforts of social workers. Thus, data on the clinical and genetic history of her pedigree are not available.

Apart from the characteristic eruption of

Discussion

Ehlers-Danlos syndrome type IV or vascular type of EDS is an autosomal-dominant disorder caused by mutations in the COL3A1 gene mapped to chromosome 2q that lead to defects in the synthesis of type III collagen, a major constituent of vessels, skin, and viscera.7 The prevalence rate of this disorder ranges from 1:100,000 to 1:1,000,000.8 Its clinical manifestations vary between minimal and severe phenotypic expression with lethal rupture of the bowel and major vessels in young patients.9 The

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