Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies.
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.
Moore
Megan M
MM
Department of Dermatology, University of Washington, Seattle, USA.
Votava
Jennie M
JM
Orlow
Seth J
SJ
Schaffer
Julie V
JV
D017668:Age of Onset; D002648:Child; D003288:Contusions / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D019066:Facies; D006801:Humans; D008297:Male; D008382:Marfan Syndrome; D010518:Periodontitis / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D013008:Somatotypes