Congenital Research Articles

The role of developmental factors in hypoplasia of deciduous teeth and treatment specifics in pediatric dental practice

Relevance. Congenital and systemic diseases can lead to developmental errors in the enamel organ, resulting in anomalies such as enamel hypoplasia. The high prevalence of these defects illustrates the vulnerability of teeth to changes in the intrauterine and postnatal environments. Enamel hypoplasia contributes to the development of caries and tooth wear by making enamel thinner, more retentive to dental plaque, and less resistant to acid degradation compared to normal enamel. Surfaces of the affected hard tissues are smooth and exhibit a symmetric distribution pattern. The occurrence of enamel hypoplasia in children is a significant factor in the development of caries; thus, they require comprehensive treatment and ongoing preventive care by a pediatric dentist.Purpose. To analyze the impact of factors contributing to the development of deciduous teeth hypoplasia in children, on the frequency of this condition and the specifics of its treatment by a pediatric dentist.Materials and Methods. The study involved the examination and treatment of children aged 4-12 at the Dental and Implantology Department of Kazan (Volga Region) Federal University over a 12-month period. Out of 972 children, 67 were diagnosed with systemic enamel hypoplasia. A questionnaire was developed for statistical research, and data were processed using Statistica 7.0 software Statistica 7.0 (StatSoft, США).Results. The survey revealed chronic diseases in 16.42% of mothers. During pregnancy, 68.6% of the mothers visited a dentist once, and 31.3% visited two to three times. Most mothers experienced early pregnancy toxemia—67% in the first half and 58.2% in the second half of the pregnancy. Additionally, 50.7% suffered from acute respiratory viral infections and influenza, and 25.4% had gastrointestinal diseases. Feeding practices involved breastfeeding in 68.7% of cases and artificial feeding in 31.3% (up to 3 months – 16.4%, up to 1 year – 64.1%, up to 2 years – 19.4%). Examination of the oral cavity in 67 children with systemic hypoplasia revealed a spotted form in 79.1% of cases and a purely destructive form in 20.9% of cases. Contemporary conservative dentistry emphasizes minimally invasive approaches to the treatment of such dental defects.Conclusion. The study of deciduous tooth hypoplasia in children highlighted the importance of the health status of the expectant mother and timely sanitation of the oral cavity. Particular attention should be paid to maternal infectious diseases, specifically influenza and ARVI. The findings underscore the need for preventive measures against temporary tooth hypoplasia from the onset of pregnancy planning to enhance the dental well-being of children.

Outcomes of Bicuspid Aortic Valve in Pregnancy

Bicuspid Aortic Valve, Congenital Cardiac Disease, Echocardiography, Maternal Screening.

Surgical Management of Psudosyndactyly in Recessive Dystrophic Epidermolysis Bullosa: About Three Case Reports

Recessive dystrophic epidermolysis bullosa (RDEB) is defined as a congenital disorder resulting from mutations in the COL7A1 gene, often resulting in hand contractures and pseudosyndactyly. While multiple treatments exist to improve hand malformations, there are currently still no radical cures for this disease because of its high recurrence rate. This paper reports our experience of management of hand deformities in three cases of Recessive dystrophic epidermolysis bullosa patients with surgical management and postoperative skin dressings. Hand function was significantly improved after the complete release of pseudosyndactyly and the achievement of satisfying digital web spaces. Patients were followed up for one year and showed good results after functional hand training activities.

Identification of a novel de novo mutation in SOX4 for syndromic tooth agenesis.

Coffin-Siris Syndrome (CSS) is a congenital disorder characterized by delayed growth, dysmorphic facial features, hypoplastic nails and phalanges of the fifth digit, and dental abnormalities. Tooth agenesis has been reported in CSS patients, but the mechanisms regulating this syndromic tooth agenesis remain largely unknown. This study aims to identify the pathogenic mutation of CSS presenting tooth genesis and explore potential regulatory mechanisms. We utilized whole-exome sequencing to identify variants in a CSS patient, followed by Sanger validation. In silico analysis including conservation analysis, pathogenicity predictions, and 3D structural assessments were carried out. Additionally, single-cell RNA sequencing and fluorescence in situ hybridization (FISH) were applied to explore the spatio-temporal expression of Sox4 expression during murine tooth development. Weighted Gene Co-expression Network Analysis (WGCNA) was employed to examine the functional role of SOX4. A novel de novo SOX4 missense mutation (c.1255C > G, p.Leu419Val) was identified in a Chinese CSS patient exhibiting tooth agenesis. Single-cell RNA sequencing and FISH further verified high expression of Sox4 during murine tooth development, and WGCNA confirmed its central role in tooth development pathways. Enriched functions included cell-substrate junctions, focal adhesion, and RNA splicing. Our findings link a novel SOX4 mutation to syndromic tooth agenesis in CSS. This is the first report of SOX4 missense mutation causing syndromic tooth agenesis. This study not only enhances our understanding of the pathogenic mutation for syndromic tooth agenesis but also provides genetic diagnosis and potential therapeutic insights for syndromic tooth agenesis.

Long-term outcomes in non-CAH 46,XX DSD.

Differences/disorders of sex development (DSD) comprise a large group of rare congenital conditions. 46,XX DSD, excluding congenital adrenal hyperplasia (CAH), represent only a small number of these diseases. Due to the rarity of non-CAH 46,XX DSD, data on this sex chromosomal aberration were confined to case reports or case series with small numbers of patients. As the literature is still relatively sparse, medical data on the long-term effects of these pathologies remain scarce. In this review, we aim to provide an overview of current data on the long-term follow-up of patients with non-CAH 46,XX DSD, by covering the following topics: quality of life, gender identity, fertility and sexuality, global health, bone and cardiometabolic effects, cancer risk, and mortality. As non-CAH 46,XX DSD is a very rare condition, we have no accurate data on adult QoL assessment for these patients. Various factors may contribute to a legitimate questioning about their gender identity, which may differ from their sex assigned at birth. A significant proportion of gender dysphoria has been reported in various series of 46,XX DSD patients. However, it is difficult to give an accurate prevalence of gender dysphoria and gender reassignment in non-CAH 46,XX DSD because of the rarity of the data. Whatever the aetiology of non-CAH 46,XX DSD, fertility seems to be impaired. On the other hand, sexuality appears preserved in 46,XX men, whereas it is impaired in women with MRKH syndrome before treatment. Although there is still a paucity of data on general health, bone and cardiometabolic effects, and mortality, it would appear that the 46,XX DSD condition is less severely affected than other DSD conditions. Further structured and continued multi-center follow-up is needed to provide more information on the long-term outcome of this very rare non-CAH 46,XX DSD condition.

Exploring genetic variants in congenital monosaccharide-disaccharide metabolism: Carrier ratiosandphenotypic insights.

Adverse food reactions, often underestimated, encompass congenital monosaccharide-disaccharide metabolism disorders, yielding diverse outcomes such as abdominal pain, diarrhea, bleeding disorders, and even death. This study retrospectively scrutinized genetic variants linked to these disorders in a cohort subjected to whole-exome sequence analysis (WES), determining carrier frequencies and genotype-phenotype correlations. Data from 484 patients, were retrospectively analyzed using a gene panel (ALDOB, FBP1, GALE, GALK1, GALM, GALT, LCT, SLC2A2, SLC5A1, SI) for congenital monosaccharide-disaccharide metabolism disorders. WES was performed on patients using the xGen Exome Research Panel v2 kit, utilizing Next Generation Sequence Analysis (NGS). The study encompassed pathogenic, likely pathogenic, and variant of uncertain significance (VUS) variants. Among 484 patients (244 female, 240 male), 17.35% carried 99 variants (67 distinct) in the analyzed genes. Pathogenic/likely pathogenic allele frequency stood at 0.013, while VUS allele frequency was 0.088. Notably, 44% (37/84) of patients harboring mutations manifested at least one relevant phenotype. Carriage frequencies ranged from 1:25 (SI gene) to 1:968 (GALE gene), with the estimated disease frequency spanning from 1:2500 to 1:3748000. Our study underscores clinical manifestations in heterozygous carriers of recessive genetic disorders, addressing gaps in carrier frequencies and phenotypic effects for congenital monosaccharide-disaccharide metabolism disorders. This knowledge can improve these conditions'diagnosis and management, potentially preventing adverse food reactions and their associated complications.

The Evolutionary Route of in vitro Human Spermatogenesis: What is the Next Destination?

Malfunction in spermatogenesis due to genetic diseases, trauma, congenital disorders or gonadotoxic treatments results in infertility in approximately 7% of males. The behavior of spermatogonial stem cells (SSCs) within three-dimensional, multifactorial, and dynamic microenvironment implicates a niche that serves as a repository for fertility, since can serve as a source of mature and functional male germ cells. Current protocols enable reprogramming of mature somatic cells into induced pluripotent stem cells (iPSCs) and their limited differentiation to SSCs within the range of 0-5%. However, the resulting human iPSC-derived haploid spermatogenic germ cell yield in terms of number and functionality is currently insufficient for transfer to infertility clinic as a therapeutic tool. In this article, we reviewed the evolution of experimental culture platforms and introduced a novel iPSCs-based approach for in vitro spermatogenesis based on a niche perspective bearing cellular, chemical, and physical factors that provide the complex arrangement of testicular seminiferous tubules embedded within a vascularized stroma. We believe that bioengineered organoids supported by smart bio-printed tubules and microfluidic organ-on-a-chip systems offer efficient, precise, personalized platforms for autologous pluripotent stem cell sources to undergo the spermatogenetic cycle, presenting a promising tool for infertile male patients with complete testicular aplasia.

Dermato-Radiological Evaluation of Congenital Limb Overgrowth Vascular Syndromes

Abstract International Society for the Study of Vascular Anomalies classification defines Congenital Limb Overgrowth Vascular Syndromes (CLOS) as a subset of vascular syndromes with other abnormalities that present with unilateral limb overgrowth. It includes Klippel–Trenaunay Syndrome, Parkes–Weber Syndrome, CLOVES (Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Spinal/Skeletal Anomalies/Scoliosis) Syndrome, Proteus Syndrome, PTEN Hamartomatous Syndrome, and Fibroadipose Vascular Anomaly. Due to their rare and complex nature, a multidisciplinary approach to diagnosis and treatment is required. A thorough clinical and radiological workup can go miles in reflecting on the patient’s outcome. Here we report five cases of CLOS with their detailed dermato-radiological profiles.

Modeling the cell biology of monogenetic intestinal epithelial disorders.

Monogenetic variants are responsible for a range of congenital human diseases. Variants in genes that are important for intestinal epithelial function cause a group of disorders characterized by severe diarrhea and loss of nutrient absorption called congenital diarrheas and enteropathies (CODEs). CODE-causing genes include nutrient transporters, enzymes, structural proteins, and vesicular trafficking proteins in intestinal epithelial cells. Several severe CODE disorders result from the loss-of-function in key regulators of polarized endocytic trafficking such as the motor protein, Myosin VB (MYO5B), as well as STX3, STXBP2, and UNC45A. Investigations of the cell biology and pathophysiology following loss-of-function in these genes have led to an increased understanding of both homeostatic and pathological vesicular trafficking in intestinal epithelial cells. Modeling different CODEs through investigation of changes in patient tissues, coupled with the development of animal models and patient-derived enteroids, has provided critical insights into the enterocyte differentiation and function. Linking basic knowledge of cell biology with the phenotype of specific patient variants is a key step in developing effective treatments for rare monogenetic diseases. This knowledge can also be applied more broadly to our understanding of common epithelial disorders.

Current Diagnostic Approaches in the Genetic Diagnosis of Disorders of Sex Development.

Disorders of sex development (DSD) are a clinically and genetically highly heterogeneous group of congenital disorders. The most accurate and rapid diagnosis may be possible with a complementary multidisciplinary diagnostic approach, including comprehensive clinical, hormonal, and genetic investigations. Rapid and accurate diagnosis of DSD requires urgency in terms of gender selection and management of the case. Despite the genetic tests performed in current daily practice, the genetic cause is still not elucidated in a significant proportion of cases. Karyotype analysis can be used as a standard for sex chromosome identification. In addition, quantitative fluorescent polymerase chain reaction (QF-PCR) or fluorescence in situ hybridization (FISH) analysis can be used for faster and more cost-effective detection of the sex chromosome and SRY gene. Multiplex ligation-dependent probe amplification (MLPA), single-gene sequence analysis, next-generation sequence analysis (NGSA), targeted NGSA, whole-exome sequencing (WES), and whole-genome sequencing (WGS) analyses can be performed according to preliminary diagnoses. Microarray analysis (array comparative genomic hybridization (aCGH) and single nucleotide polymorphism array (SNPa)) should be performed in cases with syndromic findings and if no pathology is detected with other tests. In DSD cases, the use of optical genome mapping and techniques, which will probably be in daily practice in near future, may be considered. In conclusion, the clinical and genetic diagnosis of DSD is difficult, and molecular genetic diagnosis is often not available. This has psychosocial and health implications for patients and their families. New genetic techniques, especially those targeting the whole genome, may provide a better understanding of DSD through the identification of little-known genetic causes. This review focuses on conventional genetic and next-generation genetic techniques used in the genetic diagnosis of DSD, as well as possible genetic diagnostic techniques and approaches that may be used in routine practice in near future.

Laparoscopic sleeve gastrectomy in a young female with Guillain-Barré syndrome and situs inversus totalis: a case report

Laparoscopic sleeve gastrectomy (LSG) has emerged as a prominent bariatric surgery (BS) procedure due to its efficacy in weight reduction and improvement of associated co-morbidities. Although BS can be an underlying cause of Guillain-Barré syndrome (GBS), it's influence on those with a history of GBS remains uncertain. GBS is a rare autoimmune disorder characterized by symmetrical muscle weakness, and its coexistence with situs inversus totalis (SIT), a congenital condition involving mirrored organ placement, poses unique surgical challenges. We present a case of a 24-year-old female with a history of GBS and SIT seeking LSG for obesity management. Preoperative assessment involved multidisciplinary collaboration, and surgical adaptation was necessary due to anatomical anomalies. Trocar placement mirrored organ positions, facilitating successful surgery. Postoperative recovery was uneventful. At the one-year follow-up, she had a discernible improvement in the weakness that she expressed in her lower limbs. Obesity exacerbates GBS-related complications, necessitating careful consideration of surgical interventions. SIT presents technical challenges during laparoscopic procedures, demanding surgical expertise. Multidisciplinary assessment and surgical adaptation are crucial for optimizing outcomes. This case demonstrates the successful management of obesity in a patient with GBS and SIT through LSG, highlighting the importance of a comprehensive approach and surgical adaptation. LSG proves effective in promoting weight loss and improving mobility in such complex cases. Continued documentation of unique cases is essential for guiding future interventions in this challenging patient population.

Assessment of genetic markers associated with the development of bronchopulmonary dysplasia in premature infants in the structure of a prognostic model of its development

Introduction. Bronchopulmonary dysplasia (BPD) is a complex disease with a significant genetic predisposition. The aim of the study was to determine genetic markers associated with the development of bronchopulmonary dysplasia in premature infants. 
 Materials and methods. At Stage 1, whole exome sequencing followed by the bioinformatic analysis of one hundred samples was provided to evaluate the genetic variants. Sequencing data were compared with the data of the children without any congenital pulmonary diseases. At Stage 2, the obtained results were validated using real-time PCR. Further the genotyping of the control group (n = 70) was performed. The obtained frequencies of nucleotide variants were compared between the groups, as well as with general population data using the RUSeq database. 
 Results. The prevalence of genetic variant rs12489516 in gene CPA3 was significantly higher in the control group of premature infants (p = 0.03; OR = 0.2; 95% CI: 0.02–0.94). Its presence in the genotype reduces the likelihood of developing BPD by 4.76 times. Moreover, statistically significant differences were also identified in the prevalence of rs45488997 in gene CCN2 (p = 0.023). This genetic variant was specific only for children with bronchopulmonary dysplasia. It was also identified that the prevalence of the nucleotide variant rs45488997 in the CCN2 gene was statistically more common among patients with bronchopulmonary dysplasia compared with the general population (p = 0.005). In addition, genetic variants rs5744174 in gene TLR5 and rs2476601 in gene PTPN22 were less frequently observed in the investigated group compared to the general population (p = 0.03 and p = 0.003, respectively). 
 Conclusion. Identification of genetic markers together with clinical and laboratory data will contribute to the development of an effective predictive model for the calculation of the probability of BPD.

Holt-Oram Syndrome – A Case Report and a Short Review

Holt-Oram syndrome also known as the heart-hand syndrome type 1, is an autosomal dominant rare congenital disorder, manifested as a conglomeration of various skeletal and cardiac abnormalities. The list of differential diagnoses of such abnormalities is extensive but careful examination can point towards a specific diagnosis even without genetic testing in a resource-limited country. We present a sporadic case of Holt-Oram syndrome with OS-ASD highlighting the diagnostic problem without genetic testing and discussing differentiating salient features of most of the syndromic associations.

Postpartumzorg in de eerste lijn: samenvatting van een multidisciplinaire richtlijn (deel 1)

Postpartum care in primary care: summary of a multidisciplinary guideline The lying time at the maternity ward for a healthy woman giving birth to a healthy baby is now on average less than 3 days. Therefore, primary care providers have a greater responsibility in the follow-up of the mother and newborn during the postpartum period. This article is a summary of the first part of the multidisciplinary guideline Postpartum care in primary care developed by the national Working Group Development of Primary Care Guidelines (WOREL) according to the internationally recognised methods of guideline development. The guideline formulates recommendations for quality postpartum care in collaboration with all involved healthcare providers with the aim of recognising and addressing complications in the newborn and mother in a timely manner. It is important that healthcare providers know what is normal, which red flags they should not miss, have basic knowledge about conditions and situations, and timely refer the patient to primary or secondary care. The article describes what attitude to adopt in case of life-threatening and serious complications in the maternity woman (postpartum haemorrhage, pre-eclampsia, venous thromboembolism and endometritis) and the newborn (jaundice, neonatal sepsis, congenital heart defect, dehydration, nutritional difficulties and metabolic disorders), as well as in case of less severe complications or complaints in the maternity woman (perineal pain, headache, constipation, haemorrhoids, urinary incontinence, fatigue and back pain) and the baby (gastro-oesophageal reflux, thrush, nappy dermatitis, intestinal cramps, conjunctivitis, cord infections and fever). Finally, specific situations in both the mother (prevention of antibody formation, rubella vaccination, thyroid disorders and gestational diabetes) and the newborn (cord care, prevention of sudden death, vitamin K and vitamin D substitution, and child abuse) are highlighted.

Functional and Genetic Analyses Unveil the Implication of CDC27 in Hemifacial Microsomia.

Hemifacial microsomia (HFM) is a rare congenital genetic syndrome primarily affecting the first and second pharyngeal arches, leading to defects in the mandible, external ear, and middle ear. The pathogenic genes remain largely unidentified. Whole-exome sequencing (WES) was conducted on 12 HFM probands and their unaffected biological parents. Predictive structural analysis of the target gene was conducted using PSIPRED (v3.3) and SWISS-MODEL, while STRING facilitated protein-to-protein interaction predictions. CRISPR/Cas9 was applied for gene knockout in zebrafish. In situ hybridization (ISH) was employed to examine the spatiotemporal expression of the target gene and neural crest cell (NCC) markers. Immunofluorescence with PH3 and TUNEL assays were used to assess cell proliferation and apoptosis. RNA sequencing was performed on mutant and control embryos, with rescue experiments involving target mRNA injections and specific gene knockouts. CDC27 was identified as a novel candidate gene for HFM, with four nonsynonymous de novo variants detected in three unrelated probands. Structural predictions indicated significant alterations in the secondary and tertiary structures of CDC27. cdc27 knockout in zebrafish resulted in craniofacial malformation, spine deformity, and cardiac edema, mirroring typical HFM phenotypes. Abnormalities in somatic cell apoptosis, reduced NCC proliferation in pharyngeal arches, and chondrocyte differentiation issues were observed in cdc27-/- mutants. cdc27 mRNA injections and cdkn1a or tp53 knockout significantly rescued pharyngeal arch cartilage dysplasia, while sox9a mRNA administration partially restored the defective phenotypes. Our findings suggest a functional link between CDC27 and HFM, primarily through the inhibition of CNCC proliferation and disruption of pharyngeal chondrocyte differentiation.

Durable cellular immune response against inactivated ZIKV and envelope proteins in ZIKV-infected women during pregnancy

IntroductionZika virus (ZIKV) infection has been associated to Guillain-Barré syndrome in adults and congenital malformations during pregnancy, leading to the manifestation of congenital Zika syndrome (CZS). The ZIKV envelope protein (EZIKV), prominently displayed on the virus surface, is a primary target for the humoral immune response. However, limited information exists regarding its capacity to induce cellular immunity, particularly in pregnant women with a history of ZIKV infection. The EZIKV protein comprises three domains: the central domain (EDI), a dimerization domain (EDII), and a domain responsible for binding to the cell surface receptor (EDIII). To examine the regions of EZIKV targeted by cellular immunity, we examined cellular immune responses in a cohort of mothers infected with ZIKV, whose infants exhibited microcephaly.MethodsTo assess the ZIKV-specific response, we used inactivated virus and different recombinant viral envelope proteins (EZIKV, EDI/IIZIKV and EDIIIZIKV). All women in the study contracted the infection during pregnancy, with 72% experiencing symptoms such as fever, rash, joint pain, and retro-orbital pain. Peripheral blood mononuclear cells (PMBC) were collected post- ZIKV diagnosis confirmation, with a median time of 18 months (IQR 13.5-19) after parturition. Using the ELISpot assay, we quantified specific interferon-gamma (IFNγ) producing cells by stimulating PBMC with either inactivated ZIKV particles or equimolar amounts of recombinant EZIKV, EDI/IIZIKV and EDIIIZIKV.Results and discussionOur findings demonstrate the induction of IFN-γ producing cells in PBMC from ZIKV-convalescent mothers, whose infants manifested microcephaly, upon stimulation with both inactivated ZIKV particles and recombinant proteins. The identification of immunodominant regions within ZIKV can contribute for the development of targeted treatments and vaccine candidates tailored for pregnant women.

Pregnancy in Patients with the Fontan Operation.

Improved survival rates for patients with a Fontan circulation has allowed more women with this complex cardiac physiology to contemplate pregnancy. However, pregnancy in women with a Fontan circulation is associated with a high risk of adverse maternal and fetal outcomes, high rates of miscarriage and preterm delivery. Factors associated with a successful pregnancy outcome are: younger age, normal body weight, absence of significant functional limitation, no Fontan-related complications, and well-functioning single ventricle physiology. Appropriate care with timely preconception counselling and regular, frequent clinical reviews by a multidisciplinary team based at a tertiary centre, improves the chance of a successful pregnancy. Empowerment of patients with education on their specific congenital cardiac condition and its projected trajectory, helps them make informed choices regarding their health, reproductive choices and assists them to achieve their life goals.

Syndromic ciliopathy: a taiwanese single-center study

BackgroundSyndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual problems, skeletal anomalies, mental retardation, and renal diseases. The hallmark of the pathophysiology among these disorders is defective ciliary functions or formation. Many different genes have been implicated in the pathogenesis of these diseases, but some patients still remain unclear about their genotypes.MethodsThe aim of this study was to identify the genetic causes in patients with syndromic ciliopathy. Patients suspected of or meeting clinical diagnostic criteria for any type of syndromic ciliopathy were recruited at a single diagnostic medical center in Southern Taiwan. Whole exome sequencing (WES) was employed to identify their genotypes and elucidate the mutation spectrum in Taiwanese patients with syndromic ciliopathy. Clinical information was collected at the time of patient enrollment.ResultsA total of 14 cases were molecularly diagnosed with syndromic ciliopathy. Among these cases, 10 had Bardet-Biedl syndrome (BBS), comprising eight BBS2 patients and two BBS7 patients. Additionally, two cases were diagnosed with Alström syndrome, one with Oral-facial-digital syndrome type 14, and another with Joubert syndrome type 10. A total of 4 novel variants were identified. A recurrent splice site mutation, BBS2: c.534 + 1G > T, was present in all eight BBS2 patients, suggesting a founder effect. One BBS2 patient with homozygous c.534 + 1G > T mutations carried a third ciliopathic allele, TTC21B: c.264_267dupTAGA, a nonsense mutation resulting in a premature stop codon and protein truncation.ConclusionsWhole exome sequencing (WES) assists in identifying molecular pathogenic variants in ciliopathic patients, as well as the genetic hotspot mutations in specific populations. It should be considered as the first-line genetic testing for heterogeneous disorders characterized by the involvement of multiple genes and diverse clinical manifestations.

Rehabilitation of mandibular resected patients using fixed immediately loaded corticobasal implant -supported prostheses. A case series

Introduction and importanceAliments such as congenital conditions, pathological, and iatrogenic circumstances may result in mandibular defects that can severely disturb the patients' oral health, functions (mastication, speech), aesthetics, and quality of life and present a rehabilitating challenge. Case presentationwe present a multidisciplinary treatment approach for three cases presented with mandibular resection as a consequence of cystic, benign, and malignant tumour eradication that were rehabilitated with immediately loaded fixed corticobasal implant-supported prostheses and a follow-up period of 5,5 and 4 years.The reported cases present with excellent implant survival, along with healthy peri-implant tissues, stable prostheses, enhanced speech, chewing ability, aesthetics, superior patient satisfaction, and improved overall self-esteem. Clinical discussionA multidisciplinary oral and maxillofacial team is mandatory for the successful rehabilitation of patients with mandibular resection and to restore soft and hard tissue loss. The reported treatment modality offers the patient immediate fixed implant-supported prostheses omitting the need for a bone grafting procedure, with optimum peri-implant tissue health, excellent biomechanical and prosthetic results, and significant improvement in function and satisfaction. ConclusionCorticobasal fixed implant-supported prostheses can be a reliable treatment modality for mandibular resection, resulting in notable enhancements in the patients' oral health, appearance, mastication, speech, and self-esteem.

Klippel-Trénaunay Syndrome and Angiokeratoma: Case Report of a Rare Condition

Introduction: Klippel-Trénaunay syndrome is a rare congenital vascular disorder characterized by a triad of cutaneous capillary malformations, varicosities and hypertrophy of soft tissues and overgrowth bones. Among the cutaneous malformations are angiokeratomas, which appear as a papule from 2 to 10 mm in diameter, usually dark red in color, although they may be blue or black, and their surface is keratotic on palpation. Angiokeratomas pose a therapeutic challenge, especially in cases of multiple or extensive lesions. Laser modalities have demonstrated efficacy and may be successful treatment options. Clinical Case: A 13-year-old male patient with a clinical history of Klippel-Trénaunay syndrome diagnosed at birth. He came to the outpatient services because he presented dermal nodular lesions at the inguinal region, painful on palpation, with a duration of one week. In addition, he had an increase in diameter of the left lower limb with multiple varicose veins, ochre dermatitis on the inner side of his left leg. On the right lower limb there are violaceous patches with the presence of euchromic papules grouped together, of hard consistency at the left knee region. He also presents multiple violaceous keratotic papules on the scrotum, thigh and left knee bleeding on manipulation and trauma. Skin excision was performed in the right inguinal region for biopsy, which reported macroscopically fibrous, multinodular element measuring 0.7x0.5x0.3cm, whitish surface of firm consistency and whitish heterogeneous surface upon sectioning. Microscopic inspection was carried out with hematoxylin and eosin technique, which reported skin with epidermis showing acanthosis, hyperkeratosis, papillary dermis with congestive dilated vessels, negative for malignancy and compatible with angiokeratoma. Among the treatment options, it was decided to initiate CO2 laser therapy with satisfactory results. Conclusions: Klippel-Trénaunay syndrome is an extremely rare vascular pathology ........