Ehlers-Danlos Syndrome Type VIII: Periodontitis, Easy Bruising, Marfanoid Habitus, and Distinctive Facies | oneedsvoice

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scientific articles

Ehlers-Danlos Syndrome Type VIII: Periodontitis, Easy Bruising, Marfanoid Habitus, and Distinctive Facies

key information

source: Journal of American Academy of Dermatology

year: 2006

authors: Moore MM, Votava JM, Orlow SJ, Schaffer JV

summary/abstract:

An 11-year-old boy had a history of easy bruising and poorly healing wounds since infancy and severe, early-onset periodontitis. He also exhibited mild hypermobility of the small joints of the hands, long limbs with striking arachnodactyly, and a triangular face with delicate features. Analysis of type I and type III collagens revealed no abnormalities. These findings were consistent with a diagnosis of Ehlers-Danlos syndrome type VIII (EDS-VIII), an autosomal dominant connective tissue disorder that was recently mapped to chromosome 12q13. We draw attention to the clinical features that typify EDS-VIII, including extensive pretibial bruising, a marfanoid body habitus, and characteristic facies, as well as childhood onset of progressive periodontal disease.

organisation: University of Washington

DOI: 10.1016/j.jaad.2006.02.024

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