Talon cusp in the temporary dentition of a patient with Kabuki syndrome: Case report with a two‐year follow‐up

The presence of dental abnormalities in the same individual may be related to syndromic cases and occur through associated systemic changes. Kabuki syndrome presents well‐defined systemic changes, but its clinical characteristics related to the oral cavity have not been fully explained. This study aimed to report the dental changes in a child diagnosed with Kabuki syndrome. A male brown patient aged 2 years and 7 months, accompanied by his mother to the dental visit, they main complaint was the presented of an additional tooth behind upper right central incisor. Anamnesis, intra‐ and extraoral examinations, and dental X‐rays were performed, revealing a talon cusp. Considering the dental clinical findings, the patient was referred to a medical geneticist who additionally requested cardiological and genetic examinations, which established the Kabuki syndrome. The caregivers were advised that the talon cusp would not cause any injury to the natural exfoliation of the tooth and that oral hygiene should be performed carefully. Abnormalities in the oral cavity and developmental delay may be associated with a potential undiagnosed syndrome. The medical evaluation becomes decisive for investigation, diagnosis, and final conduct of the case.     

Dental findings and muscular-skeletal features in Schwartz-Jampel syndrome: case report of two affected siblings

Schwartz‐Jampel syndrome (SJS) is a rare, inherited disorder defined by myotonia, skeletal malformations, muscular stiffness, and growth retardation. The clinical signs and symptoms of SJS are seen in the maxillofacial region. The combination of skeletal and muscular abnormalities predisposes affected individuals to a number of primary and secondary orodental manifestations. Although several studies have discussed the clinical features of SJS from a medical perspective, few reports have addressed the oral findings or dental treatment in children and adolescents with the disorder. This article reviews the dental manifestations and impairments of Schwartz‐JBmpel syndrome The case histories of two siblings diagnosed with this disorder are described as well as their dental care.     

Dubowitz syndrome: report of a case with emphasis on the oral features

Dubowitz syndrome is a rare condition in which the affected individual presents with dysmorphic facial features and manifests growth retardation. Although the condition is well reported in the medical literature, the dental manifestations have not been discussed in great detail. Some of the dental features reported include macrodontia, hypodontia, delayed eruption, and midline diastema. The purpose of this case report was to describe a young Chinese patient with Dubowitz syndrome with specific oral features.     

Periodontal management of gingival enlargement associated with Sturge-Weber syndrome

BACKGROUND: Sturge-Weber syndrome (encephalotrigeminal angiomatosis) is a rather uncommon congenital condition that is characterized by a combination of venous angioma of leptomeninges over the cerebral cortex and ipsilateral angiomatous lesions of the face and sometimes of the skull, jaws, and oral soft tissues. It is commonly referred to as Sturge-Weber syndrome after Sturge and Weber who first described this affliction in 1879. This article presents a case of Sturge-Weber syndrome associated with severe gingival enlargement, its management, and follow-up results. METHODS: A 15-year-old male patient was referred to the Department of Periodontics, Government Dental College and Hospital, for severe gingival enlargement. A detailed dental and medical history, clinical examination, and investigations confirmed the diagnosis of Sturge-Weber syndrome. This report reveals a classic presentation of the syndrome with emphasis on its oral manifestations. Periodontal management included thorough scaling and root planing followed by periodontal flap surgery to treat the gingival enlargement. Histopathologic examination of the excisional biopsy specimen revealed features suggestive of fibrous gingival enlargement. RESULTS: Reevaluation of the patient after 2 years showed remarkable (90%) reduction of the gingival enlargement in the maxillary arch and complete diminution (100%) in the mandibular arch. However, a slight recurrence was noted in the maxillary right quadrant. CONCLUSIONS: Sturge-Weber syndrome is clinically important to the periodontist because of its associated gingival vascular features and their complicating manifestations. Periodic systemic and oral examinations are recommended to identify and prevent any complications from the cranial and oral lesions.     

Cowden syndrome: report of a case with immunohistochemical analysis and review of the literature

Cowden syndrome is a rare condition defined by multiple hamartomatous growths and a guarded prognosis owing to the high risk of cancer development. The syndrome is inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. The PTEN/MMAC1/TEP1 tumor suppressor gene on chromosome 10q23.3, has proven to contain a germline mutation predisposing for uncontrolled cell growth and survival via the PI3K/AKT pathway. Presented here is a case of Cowden syndrome in a patient with multiple hamartomas of the nose, midfacial skin and oral mucosa, and fissured tongue; plus a history of bipolar disease, iron deficiency anemia, basal cell carcinoma, fibroids of the uterus, and arthritis. The family history was significant for a daughter diagnosed with lung cancer. A final diagnosis of Cowden syndrome was made on the basis of established criteria and confirmed using immunohistochemistry directed against PTEN and phosphorylated-AKT.     

The importance of oral-clinical findings for the correct diagnosis of Ellis-van Creveld syndrome

Ellis-van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, is a rare autosomal recessive disorder. It is characterized by a variable spectrum of clinical findings, and the most common tetrad is chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. Among the oral findings, number anomalies, peg-shaped teeth, and alterations in soft tissues are noteworthy. The aim of this paper is to report a case in which the diagnosis of EVC was possible only with the oral findings of a dentist and to relate the dental treatment performed. A 2-year-old girl was brought for dental care due to a lack of teeth. Her condition was initially diagnosed as thanatophoric dysplasia by her pediatrician. After evaluation of the oral manifestations, the dentist referred her to a geneticist, with the suggestion of EVC. The dental report, together with the systemic manifestations, allowed the geneticist to confirm the EVC diagnosis. The necessary dental procedures were performed, and the patient, now age 5, is still monitored by a multidisciplinary team.     

Dento-osseous anomalies associated to familial adenomatous polyposis mimicking florid cemento-osseous dysplasia

Familial adenomatous polyposis (FAP) is a colorectal cancer syndrome characterized by the development of multiple polyps of the colon and rectum with high risk of malignant transformation. The extraintestinal manifestations such as dento-osseous changes are associated with FAP. This is a case report of a 36-year-old female patient who was referred for dental treatment with the initial diagnosis of florid cemento-osseous dysplasia (FCOD). However, the association of the imaging dento-osseous findings with the medical history confirmed the diagnosis of FAP. The paper illustrates the clinical characteristics and imaging findings associated with FAP, and also discusses misdiagnosis based exclusively on imaging features.     

Localized attachment loss in Pendred syndrome: incidental?

BACKGROUND: Pendred syndrome is a rare, inherited, autosomal recessive disorder with an iodine organification defect of thyroxin produced by the thyroid gland. Its clinical features include sensorineural hearing loss, classically congenital and prelingual, and goiter. METHODS: This is the first case report of Pendred syndrome in the dental literature with oral findings that include localized extensive attachment loss involving mandibular incisor teeth and idiopathic hypercementosis involving multiple teeth in addition to other oral manifestations, suggesting hypothyroidism-like macroglossia and macrocheilia. Furthermore, serum alkaline phosphatase along with inorganic calcium and phosphate levels were also elevated. Peripheral neutrophil function test suggested a defective function of neutrophils. RESULTS: Management of the case included augmenting thyroxin supplementation, in consultation with an endocrinologist, and extraction of hopeless mandibular central incisors followed by placement of immediate transitional dentures. CONCLUSION: A comprehensive medical history and systemic and laboratory evaluations should be considered a prerequisite to identify, manage, and report such rare conditions in routine clinical practice.     

Oral findings and dental treatment in a patient with Dandy–Walker syndrome: a case report

Dandy–Walker syndrome (DWS) is congenital disease characterized by hypoplasia of the cerebellum, the formation of cysts that communicate with the fourth ventricle of the posterior cranial fossa, and hydrocephalus. In addition to various other complications, cleft lip/palate, facial retrognathia, a high‐arched palate, and maldentition occur at an increased frequency in patients with DWS. However, few studies have reported the dental manifestations of DWS. Herein, we report the clinical manifestations, oral findings, and dental management of a DWS patient who was treated under general anesthesia. Poor oral hygiene, gingivitis, and several congenital dental abnormalities (e.g., generalized microdontia, conical tooth, transposition, and congenitally missing teeth) were observed. This report is the first to describe the oral findings and dental treatment of DWS. Our findings emphasize the importance of a multidisciplinary approach in the diagnosis and treatment of DWS.     

Kabuki Syndrome with additional dental findings: a case report

Kabuki Syndrome (KS) is a multiple congenital anomalies/mental retardation syndrome of unknown etiology. It is characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatoglyphic patterns. The characteristic dental findings include hypodontia, microdontia, absence of upper lateral and lower central incisors and upper molars, abnormal tooth shape, widely spaced teeth, ectopic upper molars and malocclusion. The purpose of this report is to describe common and additional dental findings and dental treatment of an 11-year old female patient with KS. This case report emphasises the importance of oral and dental manifestations for diagnosis.     

Oral manifestations in 22q11 deletion syndrome

Summary. Objectives. The aims of this study were to investigate and describe oral manifestations in 22q11 deletion syndrome, and to relate the findings to medical conditions. Design. Cross‐sectional. Sample and Methods. Fifty‐three consecutive patients from Sweden referred to the Sahlgrenska University Hospital during a 3‐year period were included, median age 8 yrs (range 2–43; mean age 11·09). All but six patients were children 3–19‐years‐old. The patients were examined concerning oral mucosa, dental anomalies, dental caries, occlusal development, and eruption of the teeth. The clinical findings were compared to medical data and case history. Results. Dental anomalies were registered in high numbers. Enamel hypoplasia was found in 16 patients. In 13 cases this was documented in primary teeth, of which 10 patients had symmetrical and chronological defects. Enamel hypomineralization was found in 23 patients and was equally common in both primary and permanent teeth. The use of computerized inductive analyses revealed that enamel hypoplasia was associated with medical conditions like preterm birth and congenital heart malformation while hypomineralization was associated with more diffuse conditions like frequent infections. Hypodontia was registered in seven patients, while eight had aberrant tooth shape, and nine patients presented delayed tooth eruption. The patients had an average of 4·6 carious or filled teeth and the oral health was assessed as impaired in 15 patients who had severe dental caries (5–18 carious teeth or multiple active incipient caries lesions). Conclusions. In 22q11 deletion syndrome the oral cavity is affected by anomalies in dental enamel, tooth shape, numbers of teeth, and eruption. Dental health problems due to caries are common. This is of special importance as patients with 22q11 deletion syndrome frequently present with congenital heart malformations and immunological problems.     

Dental characteristics of the Wolf-Hirschhorn Syndrome: a case report

Little attention in the dental literature has been given to the dental characteristics of patients with the Wolf-Hirschhorn Syndrome (WHS). The syndrome is caused by deletions of the terminal portion of the short arm of chromosome 4. This case report provides information on dental anomalies noted in a child with WHS. The dental findings include agenesis of multiple permanent teeth, particularly premolars and molars, taurodontism, and over-retained primary teeth. This syndrome exhibits variable clinical expressivity, possibly due to the extent and the specific locus of the chromosomal deletion. Further studies are required to obtain a clearer view of the clinical oral/dental manifestations of this syndrome.     

Disseminated histoplasmosis with oral manifestation

Histoplasmosis is a fungal disease that affects humans and is caused by Histoplasma capsulatum. The presentation of the infection may be acute, chronic, or disseminated. The disseminated form has extrapulmonary manifestations which may include oral manifestation a. A patient with AIDS sought treatment and he had disseminated histoplasmosis with oral manifestations. The purpose of this case report and literature review is to emphasize the role the dental team has in the diagnosis of disseminated disease when a patient presents with oral manifestations associated with the disease. This case report is clinically relevant because it is not uncommon for oral manifestations to be one of the first signs of systemic disease.     

Cowden-Syndrom (Multiple-Hamartome-Syndrom)

First lesions of Cowden syndrome appear in the oral cavity and on the skin. Malignant transformation is a late, common event in thyroid and breast. The early diagnosis of Cowden disease prior to the development of internal malignancy, particularly of the breast and the thyroid gland, is very important. We emphasize that the dentist may be the first health care professional who recognizes the syndrome, and this is a crucial step in the prevention and cure of the predictable malignancy. This article presents a typical case of Cowden disease.     

Oral healthcare in Fraser syndrome

Fraser syndrome is a rare autosomal recessive disorder characterized by renal agenesis, cryptophthalmos, syndactyly, and laryngeal stenosis. Oral manifestations are sparsely described in the literature, and patients with this syndrome might require special dental management considerations because of the associated cardiac, renal, and cognitive defects. In this report, we describe the oral/dental findings in a 22‐year‐old girl with Fraser syndrome, and discuss the dental management.     

Ectrodactyly‐ectodermal dysplasia‐clefting syndrome: the oral hygiene management of a patient with EEC

Ectrodactyly‐ectodermal dysplasia‐clefting syndrome (EEC) is a rare genetic disorder. EEC was first described in 1970 and occurs in 7 of 10,000 people. This paper discusses the effects of EEC and the dental complications typically associated with this syndrome. It is important for dental practitioners to be aware of EEC due to the number of dental conditions associated with it. A case report is presented to discuss the dental management, especially issues related to oral hygiene, of a patient who had EEC.     

Gingival enlargement as a manifestation of tuberous sclerosis: case report and periodontal management

BACKGROUND: Tuberous sclerosis is an autosomal-dominant inherited disease involving many organs of the body. Oral manifestations include gingival enlargement, fibromas, and dental enamel pitting. The report presents a case of tuberous sclerosis with gingival enlargement histologically consistent with angiofibroma, describes its successful periodontal management, and reviews the literature associated with oral manifestations of tuberous sclerosis. METHODS: A 26-year-old white male presented to the Department of Periodontics and Implant Dentistry, New York University College of Dentistry, with a diagnosis of tuberous sclerosis and a chief complaint of gingival enlargement affecting mastication and esthetics. Following a complete medical history review, consultation with the patient's medical team at New York University Medical Center, and a thorough oral and periodontal examination, a treatment plan was developed that included oral hygiene instructions, mechanical debridement, and periodontal reevaluation. This was followed by gingivectomy, which provided improved function and esthetics. Excised tissue was submitted for histologic examination. The patient was followed every 2 months for assessment of the outcome of the surgical treatment. An extensive search of the dental and dermatologic literature was performed on MEDLINE. RESULTS: Histologic examination of the gingival tissue revealed features consistent with angiofibroma. Fifteen months following gingivectomy, the contours and gingival surface appearance remained normal. CONCLUSIONS: The gingival enlargement was histologically consistent with the characteristic angiofibromas of tuberous sclerosis. The gingival enlargement responded very well to gingivectomy and periodontal maintenance.     

Lenz microphthalmia syndrome with dental anomalies: a case report

This report describes the dental management and 7-year follow-up of a 14-year-old boy who showed the typical characteristics of Lenz microphthalmia syndrome, a rare genetic disorder characterized by multiple abnormalities. The main features of the syndrome are microphthalmia, developmental retardation, ear abnormalities, microcephaly, skeletal, digital and urogenital anomalies. The dental anomalies include micrognathia, hypodontia, agenesis of permanent teeth, conic-shaped incisors, and taurodontic molars. The purpose of the report was to document specific oral manifestations and dental anomalies and their management associated with a previously reported case.     

Acute idiopathic thrombocytopenic purpura: a case report

This paper presents a case report of a patient who showed severe oral and skin manifestations of acute idiopathic thrombocytopenic purpura, followed by a discussion of the approach to its differential diagnosis and management in the context of the dental setting.     

Hypodontia and nail dysplasia syndrome: Report of a case

The ectodermal dysplasias are a clinically and genetically heterogeneous group of more than 120 syndromes involving ectodermally derived structures. The syndrome that is autosomal dominantly inherited and characterized by hypodontia, dysplastic nails, and normal hair is known as hypodontia-nail dysplasia syndrome, or tooth-and-nail syndrome. Because of the minimal manifestations, this syndrome may be difficult to diagnose. Patients with hypodontia should be examined for dysplastic nails of the hands and feet and referred to medical and dental genetic specialists for verification of the diagnosis and counseling. We report a case of tooth-and-nail syndrome in a young woman.