Management of dental trauma in a child with Xeroderma Pigmentosa

Xeroderma Pigmentosa is a rare dermatological autosomal recessive disorder that manifests itself early in life as severe sunburn usually after a short exposure to sunlight. The prime characteristic features include photosensitivity, hyperpigmentation and ichthyosis in sun exposed areas, and an increase in the risk of basocellular and squamous cell carcinomas and melanomas of the skin and eyes. The case report highlights the preventive treatment options along with all necessary precautions that should be taken to protect the patient from any iatrogenic inadvertent exposures that may be deleterious to his present state. The purpose of the report is also to discuss the important role of dental professionals when dealing with debilitating medical conditions.     

Basal cell nevus syndrome: clinical and genetic diagnosis

Introduction

Basal cell nevus syndrome (BCNS), also known as Gorlin–Goltz syndrome, comprises five main pathological features: nevoid basal cell carcinomas, keratocystic odontogenic tumors, congenital skeletal anomalies, calcification of the falx cerebri, and point skin depressions on the palms and/or soles. The disease exhibits a dominant autosomal hereditary trait, with implication of the human homologue of the Drosophila segment polarity Patched (PTCH) gene. BCNS is diagnosed on the basis of clinical and radiological criteria and can be confirmed by genetic study. The patient prognosis is very good, with normal life expectancy in most cases.

Methods

The present study reports two cases of BCNS with the presence of maxillo-mandibular keratocystic odontogenic tumors.

Results

One case was diagnosed according to clinical criteria, while the other required genetic confirmation that revealed a germ line mutation in exon 17 (c.2868delC), not previously described in the databases, which was considered to be responsible for the disease.     

Palmoplantar hyperkeratosis with short stature, facial dysmorphism, and hypodontia--a new syndrome?: case report

In this study, a possible new syndrome affecting 18 members of a family spanning 4 generations is described. The main features include palmoplantar hyperkeratosis, proportionate short stature, facial dysmorphism, clinodactyly, epilepsy, deafness, and hypodontia. This syndrome is inherited in an autosomal dominant manner with a high degree of penetrance but variable expressivity. This syndrome differs markedly from the autosomal recessive types of palmoplantar hyperkeratosis such as Papillon-Lefèvre syndrome which shows premature loss of both dentitions. It is also distinct from other previously described cases of autosomal dominant forms of palmoplantar hyperkeratosis such as the Unna-Thost syndrome in that it presents short stature, facial dysmorphism, and hypodontia. These features which previously have not been associated with palmoplantar hyperkeratosis suggest that this may be a new syndrome.     

Cervical spine in Treacher Collins syndrome

Treacher Collins syndrome is a congenital syndrome with characteristic craniofacial malformations, which are well described in the literature. However, the presence of cervical spine dysmorphology in this syndrome has been minimally described. This study reviews cervical spine radiographs of 40 patients with Treacher Collins syndrome. In this sample, 7 of 40 patients displayed cervical spine anomalies, with 3 of these patients displaying multiple cervical spine anomalies. The patterns of spinal anomalies were variable, suggesting that the underlying genetic mutation has variable expressivity in cervical spine development as it does elsewhere in the craniofacial skeleton.     

Basal cell nevus syndrome. Presentation of six cases and literature review

Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is an autosomal dominant inherited disorder which is characterised by the presence of multiple maxillary keratocysts and facial basal cell carcinomas, along with other less frequent clinical characteristics such us musculo-skeletal disturbances (costal and vertebrae malformations), characteristic facies, neurological (calcification of the cerebral falx, schizophrenia, learning difficulties), skin (cysts, lipomas, fibromas), sight, hormonal, etc. On occasions it can be associated with aggressive basal cell carcinomas and malignant neoplasias, for which early diagnosis and treatment is essential, as well as family detection and genetic counselling. Currently there are new lines of investigation based on biomolecular studies, which aim at identifying the molecules responsible for these cysts and thus allowing an early diagnosis of these patients. In its clinical management and follow up, the odonto-stomatologist, the maxillofacial surgeon and several other medical specialists are involved. In this paper a review of the literature, and six cases of patients affected by multi-systemic and varied clinical expression of basal cell nevus syndrome, are presented.     

痣样基底细胞癌综合征1例报告

痣样基底细胞癌综合征是一种罕见的常染色体显性遗传疾病，以颌骨多发性角化囊肿、皮肤痣样基底细胞癌及多种骨骼异常为主要临床表现。作者报告1例典型病例．并对其临床、病理和治疗进行了讨论．     

Periodontal disease associated to systemic genetic disorders

A number of systemic disorders increase patient susceptibility to periodontal disease, which moreover evolves more rapidly and more aggressively. The underlying factors are mainly related to alterations in immune, endocrine and connective tissue status. These alterations are associated with different pathologies and syndromes that generate periodontal disease either as a primary manifestation or by aggravating a pre-existing condition attributable to local factors. This is where the role of bacterial plaque is subject to debate. In the presence of qualitative or quantitative cellular immune alterations, periodontal disease may manifest early on a severe localized or generalized basis--in some cases related to the presence of plaque and/or specific bacteria (severe congenital neutropenia or infantile genetic agranulocytosis, Chediak-Higiashi syndrome, Down syndrome and Papillon-Lefévre syndrome). In the presence of humoral immune alterations, periodontal damage may result indirectly as a consequence of alterations in other systems. In connective tissue disorders, bacterial plaque and alterations of the periodontal tissues increase patient susceptibility to gingival inflammation and alveolar resorption (Marfan syndrome and Ehler-Danlos syndrome). The management of periodontal disease focuses on the control of infection and bacterial plaque by means of mechanical and chemical methods. Periodontal surgery and even extraction of the most seriously affected teeth have also been suggested. There are variable degrees of consensus regarding the background systemic disorder, as in the case of Chediak-Higiashi syndrome, where antibiotic treatment proves ineffective; in severe congenital neutropenia or infantile genetic agranulocytosis, where antibiotic prophylaxis is suggested; and in Papillon-Lefévre syndrome, where an established treatment protocol is available.     

Radiological features of familial Gorlin-Goltz syndrome

Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.     

Hypodontia, impacted permanent teeth, spinal defects, and cardiomegaly in a previously diagnosed case of the Yunis-Varon syndrome.

The Yunis-Varon syndrome is a rare hereditary disorder with ectodermal and skeletal anomalies that include agenesis or hypoplasia of the clavicles, craniofacial disproportion with severe micrognathia, digital anomalies, prenatal and postnatal growth deficiency, and neonatal death. Only 12 cases have been reported in the literature. Although neonatal death is a significant feature of this syndrome, two case reports describe children, both males, who were 30 months and 3 years of age at the time of investigation. The 30-month-old child was reexamined at 11 years of age, and had further clinical and radiologic features that included hypodontia, impacted permanent teeth, spinal defects, cardiomegaly, bilateral hearing loss, and metatarsus adductus. Children who survive the neonatal period and continue to thrive with many of the features of the Yunis-Varon syndrome as well as the new features described in this article may not have a distinct yet related syndrome.     

Gardner syndrome: presurgical planning and surgical management of craniomaxillofacial osteomas

Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant genetic disease characterized by the combined presence of multiple intestinal polyps and extraintestinal manifestations. The extraintestinal manifestations include multiple osteomas, connective tissue tumors, thyroid carcinomas, and hypertrophy of the pigmented epithelium of the retina. Osteoma is a benign neoplasm of bone tissue characterized by slow continuous growth that usually affects the long bones and cranial bones and is a major symptom for Gardner syndrome. The authors report the extraintestinal lesions affecting the maxillofacial regions in 2 male patients (father and son) with Gardner syndrome. The presurgical planning and surgical management of these lesions are described.     

New oral findings in Cohen syndrome

Cohen syndrome is a hereditary disorder transmitted as an autosomal-recessive trait. Approximately 100 cases have been reported in the genetic and pediatric literature. Despite the fact that oral alterations are often observed in these cases, only 1 work has been published addressing this specific topic, and it tended to concentrate on periodontal abnormalities. The present study details 2 new patients, 2 brothers (8 and 11 years old), and mainly consists of an analysis of the dentomaxillary anomalies that until now have not been studied in depth. In this study, the mandible, characterized as hypoplastic in Cohen syndrome, appears to be in a normal position; what really exists is a maxillary hyperplasia of genetic origin. We also put forward an observation hitherto undescribed in the literature: dental agenesis.     

Multiple odontogenic keratocysts in a patient with type II (mitis) Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is now considered to be a heterogeneous collection of fundamentally distinct disorders. The many and varied sub-types of EDS have been distinguished using clinical, genetic and in some cases biochemical criteria and this has important implications as regards prognosis and the prediction of inheritance patterns. The major clinical features of EDS are reviewed, with particular emphasis placed on the possible complications encountered in the practice of oral surgery. A case of Type II mitis EDS is described, that presented with multiple odontogenic keratocysts.     

Crouzon syndrome--A case report

Crouzon syndrome is a genetic disorder also known as branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. Previously referred to as craniofacial dysostosis, the disorder is characterized by a number of clinical features; to date, it has no known single, initiating defect to account for all its characteristics. This article presents a case report of a 10-year-old boy with classical skeletal and soft tissue features of Crouzon syndrome.     

Synchronous orofacial granulomatosis and mucoepidermoid carcinoma: paraneoplastic syndrome or coincidence?

Some malignant neoplasias induce the appearance of local or systemic manifestations at distant sites, which can act as indicators of their presence in a process named paraneoplastic syndrome. Granulomatous reactions have already been described related to malignancies. This report describes a case of synchronous orofacial granulomatosis and mucoepidermoid carcinoma and discusses the significance of this association.     

Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations.

OBJECTIVE: To describe the largest family reported with the lacrimoauriculodentodigital (LADD) syndrome. DESIGN: A family study of eight individuals with LADD syndrome. SETTING: Pediatric Clinical Research Center at Oakland Children's Hospital. PATIENTS: Eight individuals in a four-generation family. MAIN OUTCOME MEASURE: A diagnosis of LADD syndrome was determined by the presence of one or more of the characteristic lacrimal duct, auricular, dental, or digital malformations. Tear function and orofacial clefting were also considered in the final diagnosis of LADD syndrome. RESULTS: Affected family members had the characteristic features of LADD syndrome, including cup-shaped ears; lacrimal duct obstruction; and dental, forearm, and digit malformations. In addition to the cardinal features of LADD syndrome, the proband was born with cleft lip and palate. The mother and sister of the proband have hydronephrosis, a rare feature of the disorder. Family members also have features not previously described in LADD syndrome, including vesicoureteral reflux, recurrent urinary tract infections, camptodactyly, distal thumb symphalangism, and a bicornuate uterus. CONCLUSIONS: The findings suggest that the presence of vesicoureteral reflux and recurrent urinary tract infections should be evaluated in LADD syndrome patients and that the distinction of LADD syndrome from ectrodactyly-ectodermal dysplasia and clefting syndrome by the absence of clefting may need to be reconsidered.     

PTCH1 and SMO gene alterations in keratocystic odontogenic tumors

Keratocystic odontogenic tumors (KCOTs, previously known as odontogenic keratocysts) are aggressive jaw lesions that may occur in isolation or in association with nevoid basal cell carcinoma syndrome (NBCCS). Mutations in the PTCH1 (PTCH) gene are responsible for NBCCS and are related in tumors associated with this syndrome. Mutations in the SMO gene have been identified in basal cell carcinoma and in medulloblastoma, both of which are features of NBCCS. To clarify the role of PTCH1 and SMO in KCOTs, we undertook mutational analysis of PTCH1 and SMO in 20 sporadic and 10 NBCCS-associated KCOTs, and for SMO, 20 additional cases of KCOTs with known PTCH1 status were also included. Eleven novel (1 of which occurred twice) and 5 known PTCH1 mutations were identified. However, no pathogenic mutation was detected in SMO. Our findings suggest that mutations are rare in SMO, but frequent in PTCH1 in sporadic and NBCCS-associated KCOTs. Abbreviations: NBCCS, nevoid basal cell carcinoma syndrome; KCOTs, keratocystic odontogenic tumors; BCCs, basal cell carcinomas.     

Additional phenotypic features of Muenke syndrome in 2 Dutch families

In about 30% of the patients with syndromal craniosynostosis, a genetic mutation can be traced. For the purpose of adequate genetic counseling and treatment of these patients, the full spectrum of clinical findings for each specific mutation needs to be appreciated. The Pro250Arg mutation in the FGFR3 gene is found in patients with Muenke syndrome and is one of the most frequently encountered mutations in craniosynostosis syndromes. A number of studies on the relationship between genotype and phenotype concerning this specific mutation have been published. Two Dutch families with Muenke syndrome were screened for the reported characteristics of this syndrome and for additional features. New phenotypical findings were hypoplasia of the frontal sinus, ptosis of the upper eyelids, dysplastic elbow joints with restricted elbow motion, and mild cutaneous syndactyly. Incidentally, polydactyly, severe ankylosis of the elbow, fusion of cervical vertebrae, and epilepsy were found. Upper eyelid ptosis is thought to be pathognomonic for Saethre-Chotzen syndrome but was also observed in our series of patients with Muenke syndrome. Because Muenke and Saethre-Chotzen syndrome can have similar phenotypes, DNA analysis is needed to distinguish between these syndromes, even when a syndrome diagnosis is already made in a family member.     

An etiologic study of maxillonasal dysplasia – Binder's syndrome

Abstract — As the etiology of maxillonasal dysplasia (Binder's syndrome) is unclear, an attempt has been made in this study to check the presence of hereditary factors. Pedigrees have been established for 50 patients with the syndrome who had actively requested orthodontic treatment and/or plastic surgery and for whom hereditary connections had been found in 36%. In some of the subjects the propositi volunteered further family data, which were included in the study. The total number thereby became 60 families. The results did not disprove the possibility of a genetic etiology although the suspicion of an autosomal recessive inheritance may not be the full explanation for the syndrome. If the syndrome is in fact of a genetic origin, one possibility is that the syndrome is indeed inherited as an autosomal recessive trait. In that case, the hypothesis of an incomplete penetrance must be added. Another possibility is that the syndrome is a threshold character with a genetically multifactorial background. Since no frequency counts among populations are available, further studies are required to collect families with maxillonasal dysplasia and to obtain population frequency data for the syndrome.     

An etiologic study of maxillonasal dysplasia--Binder's syndrome

As the etiology of maxillonasal dysplasia (Binder's syndrome) is unclear, an attempt has been made in this study to check the presence of hereditary factors. Pedigrees have been established for 50 patients with the syndrome who had actively requested orthodontic treatment and/or plastic surgery and for whom hereditary connections had been found in 36%. In some of the subjects the propositi volunteered further family data, which were included in the study. The total number thereby became 60 families. The results did not disprove the possibility of a genetic etiology although the suspicion of an autosomal recessive inheritance may not be the full explanation for the syndrome. If the syndrome is in fact of a genetic origin, one possibility is that the syndrome is indeed inherited as an autosomal recessive trait. In that case, the hypothesis of an incomplete penetrance must be added. Another possibility is that the syndrome is a threshold character with a genetically multifactorial background. Since no frequency counts among populations are available, further studies are required to collect families with maxillonasal dysplasia and to obtain population frequency data for the syndrome.