Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC).

Abstract

A 13-year-old patient with dermatosparaxis (Ehlers-Danlos syndrome type VIIC), an autosomal recessive disorder of procollagen-I-N-proteinase, is presented. The oral findings comprise micrognathia, hypodontia, localized microdontia, opalescent tooth discoloration, root dysplasia, pulp obliteration, severe gingival hyperplasia, frontal open bite, and severe restriction of TMJ mobility. The reported anomalies suggest the need for expanding the present phenotypic spectrum. This is the first report on oral findings in the syndrome.

• Authors: P J De Coster, F Malfait, L C Martens, A De Paepe
• Journal: Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology (J Oral Pathol Med) Vol. 32 Issue 9 Pg. 568-70 (Oct 2003) ISSN: 0904-2512 [Print] Denmark
• PMID: 12969232 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Ehlers-Danlos Syndrome (pathology)
• Female
• Humans
• Jaw Abnormalities (pathology)
• Mouth Abnormalities (pathology)
• Temporomandibular Joint Disorders (pathology)
• Tooth Abnormalities (pathology)