Oral and maxillofacial clinical features of Ehlers-Danlos syndrome: a systematic review.

BACKGROUND

Ehlers-Danlos syndromes (EDS) are inherited connective tissue disorders with diverse clinical manifestations, complicating subtype classification. While joint hypermobility, skin hyperextensibility, and tissue fragility are key diagnostic features, oral and maxillofacial signs are often overlooked.

OBJECTIVE

This review compiles dental and maxillofacial manifestations in EDS patients and identifies subtype-specific features to assist diagnosis.

STUDY

DESIGN

This systematic review followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and was registered on PROSPERO (CRD42023410501). Studies published from 1969 to March 2023 were screened. Eligible studies included original articles, case series, and case reports involving human subjects with any EDS subtype reporting dental or maxillofacial features.

RESULTS

Subtype-specific maxillofacial features included nasal bridge depression in 80% of arthrochalasia EDS, downslanting palpebral fissures in 80% of kyphoscoliotic EDS, and deep-set eyes in 34% of classical EDS (cEDS). Oral anomalies comprised tooth agenesis in 50% of spondylodysplastic and 75% of dermatosparactic EDS cases. Dental malformations included pulpal calcifications (11/89 cEDS), root fusion (8/31 vascular EDS [vEDS]), and excessive root length (11/31 vEDS). Gingival hyperplasia was reported in 100% of dermatosparactic EDS cases. The absence of labial and/or lingual frenula remains debated.

CONCLUSIONS

This review underscores the diagnostic value of a thorough oral and maxillofacial examination in identifying EDS subtypes.