Report
A 39-year-old woman visited our clinic because of a painless periapical tumor of the upper right canine and the anterior mandible.
She is the first and only child after three unsuccessful pregnancies. Her father died early of gastric cancer with osseous involvement. However, he had early problems with his teeth and periodontium. In addition, a retinal detachment.
The patient noticed easy bruising following slight trauma since childhood and brown pretibial hematomas with atrophic scars. She reported an increased length growth during school time and early onset of gingivitis and discolorations of the teeth. Uterus bicornae and skin hyperextensibility. Extraoral findings: Marfanoid habitus, Body-Mass-Index: 21. Hypermobility and generalized hyperextensible joints. Beighton score 5/9 [2]. Doppler-sonography detected slight cardiovascular abnormalities showing a prolapsus of the dorsal tricuspid valve with minimal reflux, without rheological significance. The patient reports a recurrent temporary visual impairment. The ophthalmological examinations, however, showed normal anatomical and physiological findings. In special a Brittle-cornea-syndrome (BDS) was not found [3].
Intraoral findings: Tooth loss of upper right and lower left molars during orthodontic treatment at 12-14 years. We tested vitality positive of all remaining teeth. Gingival and periodontal indices: CPI-TN (WHO) [3]: Grade 2 [3]; GBI: 13% [4]. Oral biofilm (Micro-Ident, Hain-Lifescience, Nehren, Germany) revealed a moderate concentration of Treponema denticola (x<105) and Tanerella forsythia (x<104); No Aggregatibacter actinomycetemcomitans, Porphyromonas gingivalis, and Prevotella intermedia. The patient had no history of recent dental extraction/oral surgery, radiotherapy, or chemotherapy.
Blood investigation: Calcium, potassium, phosphate, alkaline phosphatase, parathormone, 25-hydroxy-vitamin D3 (Calcidiol), Fibroblast growth factor 23 [FGF-23) normal. Slightly reduced beta-Crosslaps (CTX) and osteocalcin. The genetic analysis revealed periodontal Ehlers-Danlos-Syndrom Typ VIII (pEDS), subtype c.890G>A, G297D, Anoctamin 5 was tested negative [4,5].