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].