Hypohidrotic ectodermal dysplasia (HED), often referred to as Christ-Siemens-Touraine syndrome, is an uncommon inherited genetic disorder characterized by irregularities in structures derived from the ectoderm, such as skin, hair, nails, teeth, and sweat glands. Common manifestations include thin hair, absent teeth (hypodontia) often pointed in shape, and diminished ability to sweat (hypohidrosis). Changes in the ectodysplasin A (EDA) gene are associated with the development of HED. Addressing this condition requires an integrated, interdisciplinary strategy to ensure the best possible support for individuals impacted. This case highlights the significance of early detection, collaborative care, and targeted interventions in managing HED. Continued research is crucial for creating novel therapies and enhancing life quality for those living with this rare condition. Here, we discuss a 22-year-old male patient displaying features such as hypodontia, sparse hair (hypotrichosis), irregular beard growth, a nasal deformity, and an inability to sweat (anhidrosis), which is associated with increased body temperature.

KCTD1 plays crucial roles in regulating both the SHH and WNT/β-catenin signaling pathways, which are essential for tooth development. The objective of this study was to investigate if genetic variants in KCTD1 might also be associated with isolated dental anomalies. We clinically and radiographically investigated 362 patients affected with isolated dental anomalies. Whole exome sequencing identified two unrelated families with rare (p.Arg241Gln) or novel (p.Pro243Ser) variants in KCTD1. The variants segregated with the dental anomalies in all nine patients from the two families. Clinical findings of the patients included taurodontism, unseparated roots, long roots, tooth agenesis, a supernumerary tooth, torus palatinus, and torus mandibularis. The role of Kctd1 in root development is supported by our immunohistochemical study showing high expression of Kctd1 in Hertwig epithelial root sheath. The KCTD1 variants in our patients are the first variants found to be located in the C-terminal domain, which might disrupt protein-protein interactions and/or SUMOylation and subsequently result in aberrant WNT-SHH-BMP signaling and isolated dental anomalies. Functional studies on the p.Arg241Gln variant are consistent with an impact on β-catenin levels and canonical WNT signaling. This is the first report of the association of KCTD1 variants and isolated dental anomalies.

Hypodontia is the most common dental developmental disorder. Several underlying mechanisms have been proposed to be involved in its pathogenesis. Occurrence of hypodontia as an isolated trait due to genetic mutations has also been reported. Hypodontia most commonly involves the mandibular premolars, maxillary lateral incisors and second premolars. However, hypodontia of permanent second molars is a rare occurrence. To the best of the author\'s knowledge, only two studies on orthodontic patients have reported hypodontia of permanent second molars in Iran. This case report describes non-syndromic bilateral missing of permanent mandibular second molars in a 10-year-old child. Clinical examination revealed no systemic underlying condition, and no clinical evidence of any syndrome, or hereditary or familial pattern. Due to the potential impact of hypodontia on the function of dentition, prompt management of hypodontia is imperative. Furthermore, due to the possible mutations associated with hypodontia, additional screening for cancer susceptibility may be recommended.

UNASSIGNED: Dental Agenesis is the usual developmental dental anomaly involving both primary and permanent dentition but most commonly it affects the permanent teeth. Genetic mutations in genes like MSX, PAX9,TGFA and AXIN2 are the likely primary contributors to tooth agenesis. Identifying the prevalence and distribution of congenital missing teeth allows for early detection and intervention which is crucial for preventing or mitigating potential dental issues that may arise due to missing teeth.
UNASSIGNED: To assess the prevalence and distribution of congenitally missing teeth across different quadrants of the jaw among patients visiting to the Dental out patient department at Tertiary Care Centre of Lucknow city.
UNASSIGNED: A Questionnaire and orthopantomogram based cross-sectional study was conducted on both male and female patients aged between 15 and 30 years, coming for evaluation of their dental health problems to the hospital. Written informed consent was obtained.
UNASSIGNED: The overall prevalence of CMT was found to be 33.3 %. The significant difference was observed in proportion of CMT between Maxilla and Mandible sites (p = 0.008). Higher prevalence was in females compared to males for both maxillary and mandibular congenital missing teeth. (p = 0.020).
UNASSIGNED: The most common CMT were third molars followed by lateral incisors. The insights derived from the study would aid dental professional in gaining a deeper comprehension of tooth agenesis.

OBJECTIVE: This cross-sectional study investigated the association between fungiform papillae (FP) numbers and tooth number anomalies in children, considering variables related to hypodontia and hyperdontia. The aim was to explore this association while adjusting for age and sex differences.
METHODS: A total of 144 children (aged 8-10) were categorized into hypodontia (n = 48), hyperdontia (n = 48), and control groups (n = 48). Clinical and radiographic diagnoses were used to classify tooth number anomalies. Hypodontia was categorized by number and location, while hyperdontia was categorized by number, shape, and location. FP were assessed using the Denver Papillae Protocol. Data analyses were performed using NCSS software, with p < 0.05 considered statistically significant.
RESULTS: The hypodontia group (22.5 ± 8.4) exhibited significantly lower FP than the control group (30.4 ± 9.2) and the hyperdontia group (27.9 ± 7.8) (p < 0.0005, p = 0.003, respectively). No significant difference existed between the hyperdontia and control groups. FP numbers in hypodontia subgroups showed no significant differences based on teeth agenesis numbers or locations. Similarly, hyperdontia subgroup analyses revealed no significant differences in FP numbers based on supernumerary teeth shapes (supplemental, conical, tuberculoid, paramolar) or the numbers of supernumerary teeth.
CONCLUSIONS: The lower FP numbers in children with hypodontia suggested an association between teeth and FP number. However, the non-significant difference in FP numbers with hyperdontia underscored the complexity of tooth development, warranting further investigations.
CONCLUSIONS: Children with hypodontia may exhibit distinct FP numbers compared to those without tooth number anomalies.

Background: Dental Anomaly Pattern (DAP) is a collection of morphologic, numeric, and eruptive anomalies of teeth that are often observed together, suggesting a potential genetic relationship. Our objective was to assess the potential associations of Molar-Incisor Hypomineralization (MIH), a common developmental defect of enamel mineralization with a controversial etiology, with two specific components of DAP: (1) agenesis (AG) and (2) infraoccluded deciduous molars (IODM). Establishing such an association between MIH and one or both anomalies would provide evidence supporting a genetic link between MIH and DAP. Methods: We examined pretreatment intraoral standardized photographies and panoramic radiographs from 574 children aged 8-14 years, 287 having MIH and 287 without MIH, comparing the frequencies of AG and IODM in both groups. The subject samples were sourced from the databases of the orthodontic department at a university hospital. Results: The frequencies of AG in the MIH and non-MIH groups were 7% and 8%, respectively (p = 0.751). The corresponding frequencies of IODM were 27% and 19.2%, respectively (p = 0.082). That is, children with MIH did not exhibit an increased frequency of AG or IODM compared to those without MIH. Conclusions: These findings do not support the inclusion of MIH in DAP. Nevertheless, further analysis of possible associations is necessary to definitively validate or invalidate this hypothesis.

UNASSIGNED: This retrospective study aimed to determine the prevalence of congenitally missing mandibular second premolars.
UNASSIGNED: A total of 1,843 radiographs were collected from five different cities in Palestine. Two experienced dentists independently examined the panoramic radiographs and demographic data (age and gender).
UNASSIGNED: Among the 1,843 radiographs, 1,039 were for females (57.37%) and 804 were for males (43.63%); 13 cases had at least one congenitally mandibular second premolar. The prevalence of congenitally missing mandibular second premolars in the study population was 0.7%. There was no significant association between gender and mandibular second premolar agenesis. Unilateral agenesis was more common than bilateral, and the left side had more cases of congenitally missing mandibular second premolars than the right side.
UNASSIGNED: The prevalence of congenitally missing mandibular second premolars in this study population was 0.7%, within the range reported in other populations.

The gradual movement of a tooth away from the occlusal plane is called infraocclusion or reinclusion. Reincluded teeth are most often deciduous molars, and permanent teeth are less frequently affected. Depending on the level of the infraocclusion, the severity of the disorder is classified as mild, moderate, or severe. The etiology of the phenomenon is not fully known. Tooth submerging can lead to serious complications, such as abnormal position of adjacent teeth, displacement of the bud of the permanent successor, shortening of the dental arch, or developmental disturbances of alveolar process. Early diagnosis of the tooth infraocclusion and regular monitoring of its progression help to avoid serious permanent sequelae. The treatment of reinclusion often involves only observation. However, in some cases, the therapeutic procedure requires interdisciplinary treatment by specialists from various fields of dentistry. This study presents current methods of diagnosis and treatment of patients with submerged teeth.

BACKGROUND: Mutations in one or multiple genes can lead to hypodontia and its characteristic features. Numerous studies have shown a strong genetic influence on the occurrence of hypodontia, and identified several genes, including AXIN2, EDA, FGF3, FGFR2, FGFR10, WNT10A, MSX1, and PAX9, that are directly associated with dental agenesis and carcinogenesis. The objective of this study was to investigate the occurrence and pattern of tooth agenesis, microdontia, and palatally displaced canine (PDC) in women diagnosed with papillary thyroid cancer (PTC), compared to a control group of women without any malignancy or thyroid disease.
METHODS: This case-control study was carried at the Department of Orthodontics, School of Dental Medicine University of Zagreb, and Department of Oncology and Nuclear Medicine Sestre Milosrdnice University Hospital Centre. The study involved a clinical examination and evaluation of dental status, panoramic X-ray analysis, and assessment of medical and family history of 116 female patients aged 20-40 with PTC, as well as 424 females in the control group who were of similar age.
RESULTS: The prevalence of hypodontia, microdontia, and PDC was statistically higher in women with PTC than in the control group. The prevalence rate of hypodontia was 11.3% in the experimental group and 3.5% in the control group. The experimental group showed a higher occurrence of missing upper lateral incisors, lower left central incisors, and all the third molars (except the upper left) compared to the control group. Women with PTC showed the prevalence of PDC significantly higher than the control group (3.5%, 0.7%, p = 0.002). The probability of hypodontia as a clinical finding increases 2.6 times, and microdontia occurs 7.7 times more frequently in women with PTC.
CONCLUSIONS: Our study suggests a possible link between odontogenesis and PTC. The absence of permanent teeth may increase the likelihood of PTC in women. Leveraging the age-7 orthopantomogram to identify women at high risk for PTC within a critical early detection window could significantly improve oral health outcomes and PTC prognosis through proactive interventions.

BACKGROUND: Hypodontia represents a notable clinical and public health concern.
OBJECTIVE: To assess the prevalence of congenitally missing permanent teeth in a sample of orthodontic/dental patients of Caucasian origin originating from the Greek island of Lesvos.
METHODS: Panoramic X-rays from 621 children and adolescents, aged 9 to 16 years (average age 12.5 years), 521 seeking orthodontic care (orthodontic group) and 100 seeking dental care (non-orthodontic group) were examined to identify congenitally missing permanent teeth.
RESULTS: The orthodontic group exhibited a 5.5% prevalence of congenitally missing permanent teeth (2.8% females; 2.7% males), while the non-orthodontic group showed a prevalence of 4% (3% females; 1% males). The descending order of prevalence for missing tooth types was as follows: lower second premolars, upper laterals, lower central incisors, lower canines, upper second premolars, and lower second molars. Among orthodontic patients with missing teeth, 62% presented with an Angle\'s Class II malocclusion. Hypodontia was most frequently observed in the mandible. No statistically significant differences were observed between the orthodontic and non-orthodontic groups in terms of the percentage of children and types of congenitally missing teeth.
CONCLUSIONS: Congenitally missing teeth were observed in about 4-5% of the studied population with a female predilection. The lower second premolar was the most commonly absent tooth, followed by the maxillary lateral incisors. An Angle\'s Class II malocclusion was present in the majority of orthodontic patients with hypodontia, mostly in the mandible.