Clinical manifestations and oral findings in Fraser syndrome

This article is the first known case report of Fraser syndrome in the dental literature. Its purpose was to present the clinical manifestations, oral findings, and dental treatment of a 14-year, 10-month-old female patient. Fraser syndrome is a rare recessive autosomal genetic disorder characterized by multisystemic malformation, usually comprising cryptophthalmos, syndactyly, and renal defects. The child presented with: (1) hydrocephaly; (2) face asymmetry; (3) low-inserted ears; (4) flat nose bridge; (5) cryptophthalmos; (6) bilateral absence of eyeballs; (7) hypertelorism; (8) syndactyly on the left fingers and toes; (9) skeletal defects; and (10) lower limb asymmetry. The intraoral examination revealed: (1) complete primary denture; (2) malocclusion; (3) tooth crowding; (4) ogival palate; (5) normal labial frena; (6) absence of lingual frenum (not compromising the tongue movements); (7) parched lips; (8) supragingival calculus adhered to all tooth surfaces; and (9) moderate gingivitis. The dental treatment consisted of periodic monitoring of the patient's oral health status and supragingival scaling associated with topical applications of 0.12% chlorhexidine digluconate gel at 2-week intervals to reduce gingivitis.     

Gastroesophageal reflux disease: New oral findings

OBJECTIVE: The objective of this study was to investigate the effects of gastroesophageal reflux disease (GERD) on dentition, salivary function, and oral mucosa.Study Design: Thirty-one patients with esophagitis underwent medical evaluation, which included taking their medical history, performing both an esophagogastroduodenoscopy and esophagus biopsy, and conducting a stomatologic examination. The latter consisted of an extraoral and intraoral physical examination, saliva tests (flow, buffer capacity, and pH), and biopsy and morphometry of the palatal mucosa, as well as taking a history of the patients' habits. Fourteen healthy volunteers from the same population were used as a control group. RESULTS: No relationship between GERD and changes in the oral cavity was shown by saliva tests, oral clinical examination, or histopathologic examination of the palatal mucosa. However, morphometric analysis of the palatal epithelium showed a statistically significant difference between the patients with GERD and the control group. CONCLUSIONS: GERD is associated with microscopic alterations in the palatal mucosa (epithelial atrophy and increased fibroblast number), which are only detected by morphometry.     

Enamel microabrasion in an individual with Cohen syndrome

This case report describes the esthetic dental treatment of a patient with Cohen syndrome where microabrasion was used to treat dental fluorosis. The patient's teeth had white and light yellow spots, which were diagnosed as moderate dental fluorosis. These spots were treated with microabrasion using pumice paste and 37% phosphoric acid. The paste was applied with a rubber cup on a low-speed handpiece and manually using a wooden stick. It took four appointments to treat all of the patient's teeth. Topical neutral fluoride was applied after each appointment to decrease any dental sensitivity. The esthetic result was satisfactory. Esthetic dental treatment may result in positive emotional and behavioral changes in patients with special needs.     

New dental findings in the median cleft facial syndrome

BACKGROUND: The main features of median cleft facial syndrome are hypertelorism, cranium bifidum occultum, widow's peak, and midine clefting of the nose, upper lip and palate. Since this pathology was first described in 1967, many cases have been reported in the literature, but none of these reports has addressed oral anomalies in depth. CASE DESCRIPTION: The authors present the case of a female patient aged 4 years and 7 months who was diagnosed with median cleft facial syndrome. In this case, the patient had an abnormal number of teeth, owing to fusion or agenesis of teeth, supernumerary teeth and ectopic eruption of some teeth. These oral anomalies had not been described before in the literature as being associated with this syndrome. CLINICAL IMPLICATIONS: Median cleft facial syndrome is a rare pathology; however, dentists should know its possible alterations at an oral level, because children with this syndrome need dental treatment to achieve good esthetics and correct occlusion.     

Unusual oral findings in dermatosparaxis (Ehlers–Danlos syndrome type VIIC)

A 13-year-old patient with dermatosparaxis (Ehlers-Danlos syndrome type VIIC), an autosomal recessive disorder of procollagen-I-N-proteinase, is presented. The oral findings comprise micrognathia, hypodontia, localized microdontia, opalescent tooth discoloration, root dysplasia, pulp obliteration, severe gingival hyperplasia, frontal open bite, and severe restriction of TMJ mobility. The reported anomalies suggest the need for expanding the present phenotypic spectrum. This is the first report on oral findings in the syndrome.     

Salivary flow rate and oral findings in Prader-Willi syndrome: a case-control study

BACKGROUND. Prader-Willi syndrome (PWS) is a rare complex multisystemic genetic disorder. AIM. The objective of this study was to provide a systematic assessment of whole saliva secretion and oral manifestations associated with PWS. DESIGN. Fifty individuals (5-40 years) with PWS and an age- and sex-matched control group were included. Whole saliva was collected. All participants underwent an anamnestic interview. Radiological and dental clinical examinations were carried out to identify hypodontia, dental caries, enamel defects and gingival inflammation. RESULTS. Mean whole salivary flow rate was 0.12 ± 0.11 mL/min in the study group compared with 0.32 ± 0.20 mL/min in the control group (P < 0.001). Hypodontia was significantly more common in PWS (P < 0.001), and dental caries in the age group >19 years was significantly lower in PWS (P = 0.04) compared with the controls. There was no significant difference in the prevalence of dental caries in the primary dentition or in the frequency of enamel defects in the permanent dentition between the two groups. Median Gingival Index was significantly higher in the Prader-Willi group compared with the controls (P = 0.02). CONCLUSIONS. Low salivary flow is a consistent finding in PWS. Nevertheless, despite dry mouth and dietary challenges, dental caries is not increased in Norwegian individuals with PWS.     

Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome

This paper reports a clinical and roentgenological examination of the teeth, jaws and saliva of 29 Scandinavian individuals with Laurence-Moon-Bardet-Biedl (LMBB) syndrome, whose cardinal signs are retinal dystrophy, polydactyly, obesity, hypogenitalism and mental retardation. All subjects had at least three of these signs, including retinal dystrophy. Compared with normal subjects, the group had statistically significantly higher frequencies of hypodontia. small teeth and short roots. In addition, the saliva showed a buffering capacity higher than normal. In conclusion, there seem to exist disturbances of both dental and skeletal formation in the LMBB syndrome.     

Primary Sjögren's syndrome: salivary gland function and clinical oral findings

OBJECTIVE: To evaluate salivary gland function, saliva composition and oral findings in patients with primary Sjogren's syndrome (pSS) subdivided into patients with and without focus score ≤1 (FS) and/or antibodies to SSA/SSB (AB) as well as in healthy controls. SUBJECTS AND METHODS: Unstimulated (UWS) and chewing stimulated (SWS) whole saliva, and stimulated parotid saliva (SPS) were collected in 16 patients fulfilling the European classification criteria for pSS subdivided into those with FS and/or AB (n= 8) and those without FS and AB (n= 8), and in age-matched (n= 14) and young healthy controls (n= 13).UWS and SWS were analysed for Na⁺ and K⁺.SPS was analysed for Na⁺, K⁺, statherin, and proline-rich proteins (PRPs).Sicca symptoms, DMFT/DMFS, plaque (PI) and gingival (GI) scores, periodontal pocket depth (PPD), and mucosal status were recorded. RESULTS: The young healthy controls had lower UWS as compared to the aged controls (P= 0.03).However, the aged controls had higher DMFT/DMFS (P < 0.001) and PI, GI and PPD (P < 0.01).Patients with FS and/or AB generally had lower saliva secretory rates than patients without FS and/or AB (P= 0.01 for UWS and SPS) and age-matched healthy controls (P= 0.001). There was no significant difference in the content of Na⁺ and K⁺, statherin and PRPs between groupS. Patients with FS and/or AB had the highest frequency of oral mucosal changes and higher DMFT/DMFS than patients without FS and/or AB and healthy controls (P < 0.01).However, PI, GI, and PPD did not differ significantly. CONCLUSION: Patients with FS and/or AB had lower salivary secretory rates, higher DMFT/DMFS, and more oral mucosal changes than patients without FS and/or AB.Additionally, data suggest that salivary gland function in healthy individuals do not decrease with age.     

Pfeiffer syndrome: oral healthcare management and description of new dental findings in a craniosynostosis

Pfeiffer syndrome is a rare fibroblast growth factor receptor‐related craniosynostosis with variable clinical presentations. We describe new dental findings of hypodontia, microdontia, dilacerations, and radicular dentin dysplasia in a 19‐year‐old girl, and discuss the oral health management.     

Dental findings in Lowe syndrome

This paper presents the dental findings of a child with the oculocerebrorenal syndrome of Lowe. The genetic abnormality in this condition results in an inborn error of inositol phosphate metabolism. Renal tubular dysfunction leads to metabolic acidosis and phosphaturia. At 4 years, generalised mobility of all primary teeth was noted. It is postulated that a defective inositol phosphate metabolism was responsible for the periodontal pathology found in this case. This is in direct contrast with previous reports of prolonged retention of primary teeth in children with this condition. Histology of extracted primary incisors demonstrated enlarged pulp chambers and mildly dysplastic dentin formation. This is consistent with a chronic subrachitic state, a known feature of Lowe syndrome, but no prominent interglobular dentin was present.     

Oral findings in DiGeorge syndrome

An 8-year-old female with DiGeorge syndrome was referred for dental treatment. Previous medical examination had disclosed heart and aortic arch malformations, hypoparathyroidism and an impaired cellular immune response. At dental examination, hypertelorism, a short philtrum, low-set malformed ears, a cleft palate and severe enamel hypoplasia were noted. The chronological distribution of enamel defects corresponded to the patients' age at known episodes of profound hypocalcemia occurring during treatment with vitamin D. Branchial dysembryogenesis should be considered in any case with dental changes related to hypoparathyroidism.     

Oral findings in Carpenter syndrome

Acrocephalopolysyndactyly Type II (Carpenter Syndrome) is determined by autosomal recessive inheritance. Only some 40 cases have been described. Variable clinical signs have been described including prolonged retention of primary teeth and hypodontia. This paper describes the oral and dental findings in a family containing two affected brothers. The family pedigree is informative, as the mother has had children by three partners. The two affected individuals are full brothers. The first affected brother has delayed dental development, severe hypodontia and small tooth crown size. Mesio-distal and bucco-lingual dimensions were measured on the study models and compared with population data. The younger brother also has delayed dental development but only mild hypodontia. Their half sister has severe hypodontia but no signs of Carpenter Syndrome. This family study demonstrates two affected individuals with typical clinical features and a pedigree compatible with autosomal recessive inheritance. Small tooth crown size has been shown by standardized measurement and evidence advanced that hypodontia is not part of the syndrome but a coincidental finding which segregates independently. We have also shown that the marked delay in emergence of teeth is associated more with problems of tooth eruption, possibly related to the bony abnormalities, than to a generalized delay in dental development.     

Immunologic findings of oral lichen planus

Abstract Immunofluorescence (IFL) examination in lichen planus (LP) often reveals fibrin deposition in the basement membrane (BM) zone and colloid bodies (CB) giving a positive IgM fluorescence. Oral biopsies were taken from the involved buccal mucosa of 10 LP patients. IFL examination showed fibrin deposition in the BM area of all patients but in none of the seven controls. CB were found in the upper connective tissue of 5/10 oral and 3/3 skin specimens and they were always positive for fibrin, IgM and keratin. Positive staining with keratin antiserum suggests the epithelial origin of CB but the importance of fibrin and IgM staining remains unknown. Double IFL staining revealed that in areas of heavy fibrin deposition and CB formation the laminin and fibronectin staining was absent, suggesting a damage to BM. Moreover, IFL examinations with serum amyloid P (SAP) antiserum and basic fuchsin (BF) showed alterations indicating that upper connective tissue elastic fiber system is also involved in oral LP.