Gnathodiaphyseal Dysplasia: Surgical Treatment and Prosthetic Rehabilitation of 2 Members of the Same Family.

Gnathodiaphyseal dysplasia (GDD) is a rare hereditary syndrome characterized by cemento-ossifying fibromas of the maxillary bones, fragile bones, curvature and cortical thinning of the tubular bones, and diaphyseal sclerosis of the long bones. In this study, 2 complex clinical cases of 2 members of the same family had GDD and were treated in the authors' odonto-stomatology department. The first was treated with a block bone graft and implant-prosthetic therapy; the other, who had extensive osteomyelitis of the second quadrant, was managed with extraction of the involved teeth, surgical revision of the site, and a graft of autologous platelet concentrate.

Modified double-layered flap technique for closure of an oroantral fistula: Surgical procedure and case report.

Several techniques have been used to close oroantral communications, and they vary in their difficulty of execution and success. We present the "modified double-layered flap technique", which is similar to the treatment of labiopalatoschisis, has a high rate of success that is dependent on the skill of the surgeon, and will involve a steep learning curve.

Reconstruction and rehabilitation of severe mandibular atrophy using distraction osteogenesis technique: a case report.

PURPOSE: The purpose of this article is to describe a rehabilitation technique for patients with severe anterior atrophy using a combination of distraction osteogenesis and implants to support fixed or removable prostheses. MATERIALS AND METHODS: The surgical technique involves the use of an extraosseous distraction device followed by more than 14 mm of distraction of the mandibular symphysis. RESULTS: The patient was successfully treated by the application of 4 implants in the region of the mandibular symphysis, stabilized by an Ackerman bar, and a removable prosthesis. CONCLUSION: Osseous distraction techniques, when possible, are preferable to block bone grafting techniques because they present considerable advantages for patients and surgeons. The combination of distraction and implant placement can rehabilitate patients with severe defects.

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.

Gnathodiaphyseal dysplasia (GDD) is an autosomal dominant syndrome characterized by frequent bone fractures at a young age, bowing of tubular bones and cemento-osseus lesions of the jawbones. Anoctamin 5 (ANO5) belongs to the anoctamin protein family that includes calcium-activated chloride channels. However, recent data together with our own experiments reported here add weight to the hypothesis that ANO5 may not function as calcium-activated chloride channel. By sequencing the entire ANO5 gene coding region and untranslated regions in a large Italian GDD family, we found a novel missense mutation causing the p.Thr513Ile substitution. The mutation segregates with the disease in the family and has never been described in any database as a polymorphism. To date, only two mutations on the same cysteine residue at position 356 of ANO5 amino-acid sequence have been described in GDD families. As ANO5 has also been found to be mutated in two different forms of muscular dystrophy, the finding of this third mutation in GDD adds clues to the role of ANO5 in these disorders.

Prevalence of stratified epithelium-specific antinuclear antibodies in 138 patients with lichen planus.

BACKGROUND: Antibodies to stratified epithelia characterize chronic ulcerative stomatitis, an entity that very closely resembles erosive lichen planus both clinically and histologically. These antibodies are directed against a 70-kd antigen. OBJECTIVE: Our aim was to verify whether antibodies to stratified epithelia are present in patients with common lichen planus. PATIENTS AND METHODS: One hundred thirty-eight patients with various forms of lichen planus were studied. Indirect immunofluorescence was performed on both monkey esophagus and HEp2-2000 cells. Immunoblotting was done with cultured keratinocytes used as the source antigen. RESULTS: Nineteen patients had antibodies to stratified epithelia (in 9 directed against an antigen of 70 kd). Forty-eight patients had circulating antibodies detected by indirect immunofluorescence on both monkey esophagus and HEp2-2000 cells (in 7 directed against an antigen of 70 kd). Indirect immunofluorescence was positive only on HEp2-2000 cells in 21 patients. Indirect immunofluorescence was negative in 50 patients on both HEp2-2000 cells and monkey esophagus. None of the last 71 patients had antibodies directed to an antigen of 70 kd. LIMITATIONS: This is a serological study; results from direct immunofluorescence studies would be interesting. CONCLUSION: Antibodies to stratified epithelia directed to an antigen of 70 kd are not exclusive to chronic ulcerative stomatitis, but are also present in some patients with lichen planus.