Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia.

Odonto-onycho-dermal dysplasia (OODD) is a rare autosomal recessive syndrome characterized by multiple ectodermal abnormalities. Mutations of the wingless-type MMTV integration site family member 10A (WNT10A) gene have been associated with OODD. To date, only 11 OODD-associated WNT10A mutations have been reported. In this report, we Characterized the clinical manifestations with focusing on dental phenotypes in four unrelated OODD patients. By Sanger sequencing, we identified five novel mutations in the WNT10A gene, including two homozygous nonsense mutations c.1176C>A (p.Cys392*) and c.742C>T (p.Arg248*), one homozygous frame-shift mutation c.898-899delAT (p.Ile300Profs*126), and a compound heterozygous mutation c.826T>A (p.Cys276Ser) and c.949delG (p.Ala317Hisfs*121). Our findings confirmed that bi-allelic mutations of WNT10A were responsible for OODD and greatly expanded the mutation spectrum of OODD. For the first time, we demonstrated that bi-allelic WNT10A mutations could lead to anodontia of permanent teeth, which enhanced the phenotypic spectrum of WNT10A mutations. Interestingly, we found that bi-allelic mutations in the WNT10A gene preferentially affect the permanent dentition rather the primary dentition, suggesting that the molecular mechanisms regulated by WNT10A in the development of permanent teeth and deciduous teeth might be different.

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

Singleton-Merten syndrome (MIM 182250) is an autosomal dominant inherited disorder characterized by early onset periodontitis, root resorption, osteopenia, osteoporosis, and aortic valve or thoracic aorta calcification. The disorder can have significant intrafamilial phenotypic variability. Here, we present a mother and daughter with Singleton-Merten syndrome harboring a previously described pathogenic missense mutation, c.2465G>A p.(Arg822Gln), in IFIH1 (interferon induced with helicase C domain 1), encoding MDA5 (Melanoma Differentiation-Associated protein 5). These data confirm the pathogenicity of IFIH1 c.2465G>A p.(Arg822Gln) for Singleton-Merten syndrome and affirm the striking phenotypic heterogeneity of this disorder. In addition, we expand the Singleton-Merten phenotype by adding severe systemic lupus erythematosus (SLE) to the clinical picture. Investigations of known SLE genes as well as a single nucleotide polymorphism suggested to be involved in development of SLE were normal.

Long term clinical outcome of dental implants placed in a patient with Singleton-Merten syndrome.

PATIENTS: Singleton-Merten syndrome is an extremely rare autosomal dominant condition with less than 10 reported cases in the literature. It is characterized by abnormal aortic calcifications and dental abnormalities. The goal of this case report is to discuss the abnormal oral clinical features and the modified treatment protocol that was used in order to achieve osseointegration of dental implants in a patient having abnormal bone density and bone turnover associated with Singleton-Merten Syndrome. DISCUSSION: Following extraction of the remaining teeth, titanium implants (Friadent GmbH, Mannheim, Germany and Straumann(®), Basel, Switzerland) were placed in the upper and lower jaw of the patient. The upper jaw which was treated with dental implants, received a bar supported implant retained prosthesis and the lower jaw an implant retained telescopic prosthesis. The patient was regularly followed up for the past 13 years during which, clinical and radiological evaluation of osseointegration was undertaken. All the loaded implants showed clinical and radiographic evidence of osseointegration. With a follow up of 13 years after insertion of the first implant, the patient reported functioning well with no complications. CONCLUSION: The treatment with dental implants in the extremely rare Singleton-Merten syndrome patients is a reasonable treatment option to rehabilitate maxillofacial aesthetics and establish normal function of the jaws.

Regional odontodysplasia: a case of progressive tooth development.

Regional odontodysplasia (RO) is considered a relatively rare dental anomaly despite increasing numbers of case reports in recent years. It usually presents as a localized anomaly in tooth development affecting a few adjacent teeth in a single maxillary or mandibular quadrant. The purpose of this paper is to describe an uncommon case of regional odotodysplasia involving noncontiguous mandibular teeth, crossing the midline in a male patient, and showing progressive normalization of tooth anatomy over a period of 6 years. Typically, teeth affected with RO become pulpally involved early on and are either extracted or endodontically treated. Such reports of automatic normalization over time in RO is supportive of a more conservative treatment approach.

Pansinusitis y afectación intracraneal por implante dental / Pansinusitis and intracranial impact of a dental implant

Las sinusitis odontógenas son una patología relativamente frecuente causada por infecciones dentales, quistes periapicales así como tras procedimientos bucodentales como una endodoncia, una elevación sinusal o la colocación de un implante. A continuación se presenta un caso extremo de una pansinusitis derecha con fistulización a espacio epidural causada por un implante osteointegrado. Ante la sospecha de una sinusitis maxilar de origen odontogénico se debe iniciar rápidamente un tratamiento antibiótico correcto y un seguimiento estrecho ya que pueden tener consecuencias fatales como la pérdida de un ojo, abscesos cerebrales o incluso la muerte(AU)

Odontogenic sinusitis is a relatively common disease caused by dental infections, periapical cysts and oral procedures such as root canal, sinus lift or implant placement. We report an extreme case of a right pansinusitis with an epidural space fistula caused by osseointegrated implants. When maxillary sinusitis of odontogenic origin is suspected, we should quickly start effective antibiotic treatment and monitor the patient closely because odontogenic sinusitis can have serious consequences, such as the loss of an eye, brain abscess or death(AU)

Regional odontodysplasia of the deciduous and permanent teeth associated with eruption disorders: A case report

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Regional odontodysplasia (RO) is an unusual, non-hereditary anomaly of the dental hard tissues with characteristic clinical, radiographic and histological findings. Clinically, RO affects the primary and permanent dentition in the maxilla and mandible or both jaws. Radiographically, there is a lack of contrast between the enamel dentin, both of which are less radiopaque than unaffected counterparts. Additionally, enamel and dentin layers are thin, giving theteeth a “ghost-like” appearance. Histologically, areas of hypocalcified enamel are visible and enamel prisms appear irregular in direction. Coronal dentin is fibrous, consisting of clefts and a reduced number of dentinal tubules; radicular dentin is generally more normal in structure and calcification.The RO etiology is uncertain; numerous factors have been suggested and considered as local trauma, irradiation,hypophosphatasia, hypocalcemia, hyperpyrexia. The treatment of RO has given rise to controversy. These cases require a continuous and multidisciplinary approach. Most clinicians advocate extracting the affected teeth as soon as possible and inserting a prosthetic replacement. Other clinicians prefer restorative procedures, if possible, to protectthe affected erupted teeth.A case of RO in an 8 year-old male whose chief complaint was the absence of eruption of permanent teeth is presented. Clinical, radiographic and histological findings are described (AU)

Diente fantasma (Odontodisplasia) / Ghost tooth (Odontodysplasia)

La odontodisplasia regional es una malformacion dentaria no usual. Los dientes afectados muestran una distintiva apariencia clinica, radiografica e histologica. Se presenta un caso clinico en un paciente pediatrico con un diente permanente odontodisplasico, y se realiza una amplia revision de la literatura de esta patologia.

Diente fantasma (Odontodisplasia) / Ghost tooth (Odontodysplasia)

La odontodisplasia regional es una malformacion dentaria no usual. Los dientes afectados muestran una distintiva apariencia clinica, radiografica e histologica. Se presenta un caso clinico en un paciente pediatrico con un diente permanente odontodisplasico, y se realiza una amplia revision de la literatura de esta patologia. (AU)