Regional odontodysplasia with facial cellulitis: a case report and literature review.

Regional odontodysplasia (ROD) is a localized developmental anomaly involving deciduous and permanent dentition, with a significant impact on patients. The affected teeth display unique ghost-like radiological characteristics, clinically manifesting as delayed tooth eruption, abnormal tooth morphology, and recurrent swelling of gingiva. In this paper, we report a case of a 2-year-old patient with ROD whose chief complaint was facial cellulitis. We analyze the medical history, clinical examination, radiographic findings, and histologic findings, and review the pathological features, pathogenesis, multidisciplinary diagnosis, and treatment of ROD. This rare case, which offers clinical samples for its further study, can provide a deeper study of ROD.

Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple-Baraitser/Zimmermann-Laband syndrome carrying KCNH1 c.1070G > A (p.R357Q) variant.

Pathogenic variants of the KCNH1 gene can cause dominant-inherited Temple-Baraitser/Zimmermann-Laband syndrome with severe mental retardation, seizure, gingival hyperplasia and nail hypoplasia. This study established an induced pluripotent stem cell (iPSC) line using urinary cells from a girl with KCNH1 recurrent/hotspot pathogenic variant c.1070G > A (p.R357Q). The cell identity, pluripotency, karyotypic integrity, absence of reprogramming virus and mycoplasma contamination, and differential potential to three germ layers of the iPSC line, named as ZJUCHi003, were characterized and confirmed. Furthermore, ZJUCHi003-derived neurons manifested slower action potential repolarization process and wider action potential half-width than the normal neurons. This cell line will be useful for investigating the pathogenic mechanisms of KCNH1 variants-associated symptoms, as well as for evaluating novel therapeutic approaches.

The dental phenotype of primary dentition in SATB2-associated syndrome: a report of three cases and literature review.

BACKGROUND: SATB2-associated syndrome (SAS; OMIM: 612,313) is an autosomal dominant inherited multisystemic disorder caused by several variants of the SATB2 gene. SAS is characterized by intellectual disability, developmental delay, severe speech anomalies, craniofacial anomalies, and dental abnormalities. Here, we report the dental phenotype of primary dentition of three Chinese children with SAS. CASE PRESENTATION: All three cases with SAS showed intellectual disability, speech and language anomalies, and palate anomalies. For the dental phenotype, all three cases showed macrodontia, crowded dentition, extensive caries, periapical abscesses and fistulas. Radiographs showed the wide-open root apex of deciduous teeth, loss of mandibular second bicuspids, delayed root formation of permanent teeth, rotated teeth, and taurodontism. Sanger sequencing of case 1 showed that there was a heterozygous code shift variation, c1985delT (p.F662Sfs*9) in the SATB2 gene, which has not been reported in literature. Root canal therapy, carious restoration, and teeth extraction were managed promptly, while preventive dental care was given regularly. CONCLUSIONS: The dental phenotype of primary dentition in SAS may show macrodontia, crowded dentition, severe caries, wide-open root apex of deciduous teeth, loss of mandibular second bicuspids, delayed root formation of permanent teeth, rotated teeth, and taurodontism. Regular oral hygiene instructions and preventive dental care are both required.

Clinical and pathological analysis of congenital granular cell tumor.

OBJECTIVES: This study aims to explore the clinical and pathological characteristics of congenital granular cell tumors and provide some references for clinical diagnosis, differential diagnosis, and treatment. METHODS: Nine ca-ses of congenital granular cell tumors who visited the Children's Hospital of Zhejiang University School of Medicine from February 2008 to March 2022 were retrospectively analyzed. Herein, its clinical characteristics, pathological characteristics, treatment, and prognosis were summarized and analyzed. RESULTS: We found that nine patients were all female, aged 1­38 days when they saw the doctor. Three of them were attached in maxillary and the other six were attached in mandible. Meanwhile, six tumors were found during the mother's pregnancy at 28-39 weeks and three tumors were found at the baby's birth. One case was excised surgically under local anesthesia, and the other cases were excised surgically under general anesthesia. After 1 month to 12 years of follow-up, patients have no recurrence, however, two cases emerged new teeth from the tumor resection site. Histopathology of all excised lesions was congenital granular cell lesion. CONCLUSIONS: Congenital granular cell tumor is a benign tumor and the prognosis is good. Therefore, surgical resection of the tumor can be done without extensive resection, and it generally does not relapse. Thus, ultrasonography during pregnancy is an important method for the early detection of congenital granular cell epulis.

Crouzon syndrome in a fraternal twin: A case report and review of the literature.

BACKGROUND: Crouzon syndrome (CS; OMIM 123500) is an autosomal dominant inherited craniofacial disorder caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. CS is characterized by craniofacial dysostosis, exophthalmos, and facial anomalies with hypoplastic maxilla and relative mandibular prognathism. CASE SUMMARY: Our report involves a 6-year-old fraternal twin boy with many caries in the oral cavity who presented with characteristic features of CS based on clinical and radiographic examinations along with Sanger sequencing. The fraternal girl did not show any abnormalities indicating CS. Carious teeth and poor oral hygiene were managed promptly through administering appropriate behavior guidance, orthodontic treatment was planned, and preventive procedures were described. CONCLUSION: CS could occur in a fraternal twin caused by a de novo mutation of the FGFR2 gene. Oral hygiene instruction, preventive programs on oral hygiene, orthodontic treatment, and maxillary osteotomy were required for treatment.

Conservative management with factor â § replacement alone for hemophilic pseudotumor in the mandible: a case report.

Hemophilic pseudotumor is a rare but serious complication that occurs less frequently in the jaw, and it may lead to bleed uncontrollably and even death. This paper reported a case of hemophilic pseudotumor with extensive osteo-destruction in the right mandible, treated by factor Ⅷ replacement and with no recurrence after 10 years of follow-up.

[Expression of fibroblast growth factor receptor like 1 protein in oral squamous cell carcinoma and its influence on tumor cell proliferation and migration].

OBJECTIVE: This study aims to investigate the expression of fibroblast growth factor receptor like 1 (FGFRL1) in oral squamous cell carcinoma (OSCC) and reveals its association with tumor cell proliferation and migration. METHODS: Western blot was performed to detect the expression of FGFRL1 protein in OSCC tissues, adjacent normal tissues, OSCC cell lines and normal epithelial cells. After knocking down of FGFRL1 in HN4 cells, CCK-8 and Ki67 assays were performed to detect cell proliferation, wounding healing assay and transwell were performed to detect cell-migration. Western blot was used to detect the expression of protein related to epithelial-mesenchymal transition (EMT). RESULTS: The expression of FGFRL1 in OSCC tissues was higher than that in adjacent nontumor tissues, respectively (t=2.820, P=0.047 8). Moreover, the expression of FGFRL1 in OSCC cells was higher than that in HOK cells. Quantitative real-time polymerase chain reaction (qRT-PCR) showed that FGFRL1 expression of FGFRL1 RNA in HOK cells was lower than that in OSCC cells. HN4 cells transfected with FGFRL1 siRNA were included in the experimental group, whereas HN4 cells treated with NC siRNA were included in the control group. CCK-8 experiment showed no significant difference between the experimental and control groups with regard to proliferation ability at 48 h (P=0.478 1) and 72 h (P=0.334 2). Migration experiment showed that the wound healing areas in the experimental group after 12 h (P=0.022 8), 24 h (P=0.005 1), and 36 h (P=0.009 5）were smaller than that in the control group. Transwell invasion assay showed that the number of invaded cells in the experimental group after 16 h (P=0.008 7) and 24 h (P=0.008 6) were lower than that in the control group. Knocking-down FGFRL1 up-regulated the expression of E-cadherin and down-regulated the expression of N-cadherin and Vimentin in HN4 cells. CONCLUSIONS: FGFRL1 expression in the OSCC tissues was significantly higher than that in the adjacent nontumor tissues. FGFRL1 expression in the OSCC cells was significantly higher than that in the HOK cells, and FGFRL1 had no effect on cell proliferation but promoted tumor cell migration and EMT.

Three years of follow-up of otodental syndrome in 3-year-old Chinese boy: a rare case report.

BACKGROUND: Otodental syndrome is an exceptionally rare autosomal dominant condition characterized by a delayed eruption of posterior teeth, globodontia, lisping, and sensorineural hearing loss. In this case report, we reported a 3-year-old Chinese boy with the otodental syndrome. CASE PRESENTATION: A 3-year-old Chinese boy was referred to our hospital with complaint of no eruption of primary canines and molars. Three years follow-up showed lately erupted bulbous primary canines with hypoplastic enamel spot, globe-shaped primary molars and sensorineural hearing loss at 4 and a half-year-old age. We diagnosed otodental syndrome in the patient's mother with hearing loss at 16-year-old age. Gene sequencing and analysis of deafness-related genes GJB2, GJB3, SLC26A4, and mtDNA did not reveal any mutation or SNPs in the patient and his mother. CONCLUSIONS: This case report highlights the importance of detailed medical, dental, and family history examination, as well as multi-disciplinary teamwork for diagnosis and treatment of otodental syndrome.

A case report of hemolytic streptococcal gangrene in the danger triangle of the face with thrombocytopenia and hepatitis.

BACKGROUND: Hemolytic streptococcus gangrene is a life threatening invasive bacterial infection. Hemolytic streptococcus gangrene in the danger triangle of the face is too lethal to operate. A case of the confirmed hemolytic streptococcus gangrene in the danger triangle of the face caused by Group A beta-hemolytic streptococcus (GAS) in 20-months old boy is presented to draw attention of clinicians to this uncommon but frequently fatal infection. CASE PRESENTATION: Previously healthy 20 months old boy suddenly developed paranasal gangrene on the left side of the danger triangle of the face, followed by rapidly progressive thrombocytopenia and hepatitis. The clinical features, liver function, and hematological and serological parameters resembled to a description of streptococcal toxic shock syndrome (STSS). Aggressive antibiotics, substitutional and supportive therapy were conducted without surgical debridement of facial tissues. Prompt diagnosis and aggressive timely treatment completely cured the disease in 28 days. CONCLUSIONS: The present case report demonstrates prompt diagnosis and timely treatment as a strategy to cure the fatal hemolytic streptococcus gangrene located in too risky body part to operate.

[Role of immunologic abnormality in recurrent parotitis in children].

OBJECTIVE: To investigate the relationship between immune function and the recurrent parotitis (RP) for children. METHODS: The children diagnosed as RP were divided into two groups: aged under 6y and over 6y and the immune function were measured and compared with that of normal children. RESULTS: For RP children the ratio of CD4+ T cell in over 6y group was significantly lower than that in under 6y group (P<0.05), while IgG value in over 6y group was higher than that in under 6y group (P<0.05). Compared with normal children, RP children in under 6y group had higher CD8+ T cell ratio and IgG, IgE, IgA and C3 value (P<0.01) and lower CD4+ T cell ratio (P<0.01), while RP children over 6y group, they had higher CD8+ T cell ratio, IgE value (P<0.01) and C3 (P<0.05), lower CD4

[The study of emergency facial trauma in children and parents' cognition on it].

OBJECTIVE: To analyze the characteristics of emergency facial trauma in children and mother's cognition on it. METHODS: Descriptive analysis was undertaken for 216 children with maxillofacial trauma. The analysis included age distributions of the children, reasons and places for the trauma, and positions and severity degrees of the trauma. The questionnaires were carried out for the patients' mothers, to understand the cognition degrees and prognosis factors. RESULTS: Most of the patients with facial trauma were aged 1-6, with the male and female ratio of 1.4:1. Falls were the leading cause for the maxillofacial injuries(83.33%). The most common types of injury were the soft tissue injuries (63.43%) and the teeth injuries (31.94%), the jaw fractures were least. 50.00% accidents occurred at home. 97.22% mothers had no knowledge of the facial injuries in children. 69.44% mothers thought it avoidable. It were relevant between mothers' educations and injuries times (chi2 = 18.16, P < 0.05). CONCLUSION: Mothers lack the knowledge is one of the most important reasons for the maxillofacial injuries in children. Propaganda should be increased among them to reduce risks of maxillofacial injuries.

[Children's temperament characteristics and dental fear].

OBJECTIVE: To evaluate the relationship between children's temperament and dental fear. METHODS: 254 children(aged 4-6 years) during first dental treatment took part in the investigation. Their parents answered the Chinese preschool children's temperament scales (CPTS). The Frankl method was used to classify the degree of the children's dental fear. The K independent samples test and One-way ANOVA test were performed to find the differences of the type of temperament and the scores of temperament dimension among three groups. RESULTS: Among the 254 children(aged 4-6 years), 104 had no fear, 80 had fear and 70 had extreme fear. The incidence of dental fear in children was 59.06%. There were no statistical differences (P > 0.05) of dental fear between boys and girls. There were statistically significant differences for the type of temperament among no fear group, fear group and extreme fear group. The scores of adaptability and quality of mood were higher in the extreme fear group and fear group than that in the no fear group. The differences in scores of adaptability and quality of mood was statistically significant between the extreme fear group and no fear group. But the scores of other seven temperament dimensions had no statistical significant differences among three groups. CONCLUSION: Children's dental fear is correlated to their temperaments. The tendencies of negative mood and slow adaptability should be considered that the patients were at risk of developing dental fear problem.

Pressure from the lips and the tongue in children with class III malocclusion.

OBJECTIVE: To discuss possible relationships between class III malocclusion and perioral forces by measuring the pressure from the lips and the tongue of children with class III malocclusion. METHODS: Thirty-one children with class III malocclusion were investigated and their perioral forces were measured at rest and during swallowing under natural head position by a custom-made miniperioral force computer measuring system. RESULTS: The resting pressures exerted on the labial side and palatine side of the upper left incisor, as well as the labial side and lingual side of the lower left incisor, were 0 g/cm(2), 0 g/cm(2), 0.57 g/cm(2) and 0.23 g/cm(2), respectively. Correspondingly, the swallowing forces were 2.87 g/cm(2), 5.97 g/cm(2), 4.09 g/cm(2) and 7.89 g/cm(2), respectively. No statistical difference between muscular pressure and gender existed. During swallowing, the lingual forces were significantly higher than the labial forces (P<0.01), however, at rest there was no significantly different force between these two sides. Compared to the normal occlusion patients, children with class III malocclusion had lower perioral forces. The upper labial resting forces (P<0.01), the lower labial resting forces (P<0.05) and all the swallowing pressures from the lips and the tongue (P<0.01) showed statistical differences between the two different occlusion conditions. Meanwhile, no significant difference was found for the resting pressure from the tongue between class III malocclusion and normal occlusion. CONCLUSION: Patients with class III malocclusion have lower perioral forces and this muscle hypofunction may be secondary to the spatial relations of the jaws. The findings support the spatial matrix hypothesis.

[The characteristics of uncooperative children's temperament during dental treatment].

PURPOSE: To compare the temperament of uncooperative and cooperative children during dental treatment, and find out the characteristics of the uncooperative children's temperament. METHODS: Fifty-two cooperative children (aged from 3 to 7 years) and thirty-five uncooperative children (aged from 3 to 7 years) during dental treatment were included in the investigation. Their parents were asked to answer the Chinese Preschool Children's Temperament Scale (CPTS). The two independent sample's Mann-whitney test and Student's t test were performed to find the difference of the type of temperament and the temperamental dimension between the two groups. RESULTS: (1) There was a statistically significant difference (P<0.05) in the type of temperament between the uncooperative group and the cooperative group. In the uncooperative group, the number of difficult temperament children was significantly larger than that in the uncooperative group. (2) The scores of adaptability and quality of mood were significantly higher in the uncooperative group than that in the cooperative group. CONCLUSIONS: Children's cooperation in pediatric dentistry was correlated to their temperament. The tendencies of negative mood and slow adaptation and difficult temperament should be considered patients at risk of uncooperation in pediatric dentistry.

Muscular forces exerted on the normal deciduous dentition.

This study evaluated the distributing characteristic of the forces exerting on the normal deciduous dentition and the relationship between the muscular forces, sex, and oral function. The pressure measurements were made with a computer-aided perioral force-measuring system designed by the authors. The forces were measured when the subject's head position was in a state of natural head position and oral function was at rest or with swallowing. The results indicated that the forces from lips, cheeks, and tongue at rest were about 37-208 N/m2, whereas the pressure during swallowing was about 1009-1679 N/m2. At rest, the pressure from lips and cheeks was higher than that from tongue (P < .05), whereas during swallowing, the lingual pressure was statistically larger (P < .001). A significant correlation existed between the muscular pressure and sex. When at rest, the boy's force from cheeks was higher than that of the girl's (P < .05) but during swallowing the boy's labial pressure was statistically higher than that of the girl's (P < .01). It was concluded that (1) the deciduous teeth are not in a state of absolute balance between external and internal forces, (2) the distributing manner and unbalanced mode of the forces are different with the different oral functions, (3) the lingual side of the mandibular anterior teeth endures great differences during oral functions and it may account for high incidence of malocclusion in this segment, and (4) a statistical difference between muscular forces and sex exists.

[Study of muscle pressure exerted on deciduous normal occlusion].

OBJECTIVE: To measure the muscle pressure exerted on the deciduous normal occlusion and to explore the relationship between the denture,occlusion, skeleton and muscle pressure. METHODS: Thirty volunteers of deciduous normal occlusion were included in the study. The muscle pressure of natural head posture (NHP) was measured at rest and during swallowing by a PC real-time measuring system and the data were analyzed by statistical software SAS. RESULT: The forces from lips, cheeks and tongue at rest were 0 approximate, equals 1.47 g/cm(2), while the pressure were increased to 9.60 approximate, equals 20.13 g/cm(2) during swallowing. The lip pressure was higher than the lingual side but there was no statistical difference at rest. The boys had higher pressure than girls,but there was also no statistical difference at rest. The pressure of normal occlusion was related to sex at the position of the upper labial incisor and the side of the dental arch during swallowing. The pressure of both sides of the dental arch increased significantly during swallowing. CONCLUSION: The deciduous dentition is in a state of dynamic equilibrium. This equilibrium may result in a special facial morphology.