Journal article
Ehlers-Danlos syndrome type VIII: Periodontitis, easy bruising, marfanoid habitus, and distinctive facies
Journal of the American Academy of Dermatology, Vol.55(2), pp.S41-S45
01 Aug 2006
PMID: 16843123
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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Details
- Title
- Ehlers-Danlos syndrome type VIII: Periodontitis, easy bruising, marfanoid habitus, and distinctive facies
- Creators
- Megan M. Moore - From the Departments of DermatologyJennie M. Votava - University of WashingtonSeth J. Orlow - New York UniversityJulie V. Schaffer - New York University
- Publication Details
- Journal of the American Academy of Dermatology, Vol.55(2), pp.S41-S45
- Publisher
- Mosby, Inc
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Dermatology [Historical]
- Web of Science ID
- WOS:000239464700010
- Scopus ID
- 2-s2.0-33745700452
- Other Identifier
- 991022065041104721