Ehlers-Danlos syndrome type VIII: Periodontitis, easy bruising, marfanoid habitus, and distinctive facies - 09/08/11
New York, New York, and Seattle, Washington
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.
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Production and distribution supported by an educational grant to the American Academy of Dermatology by Stiefel Laboratories, Inc. Funding sources: None. Conflicts of interest: None identified. Presented at the Ronald O. Perelman Department of Dermatology Clinical Conference, New York University School of Medicine, New York, NY, May 17, 2005. |
Vol 55 - N° 2S
P. S41-S45 - août 2006 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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