Phenotypic heterogeneity of non-syndromic supernumerary teeth: genetic study

Lichen planus is a chronic autoimmune multi-factorial inflammatory condition of the mucocutaneous skin that mainly interests the skin and oral mucosa. Oral Lichen Planus (OLP) affects 0.5 to 1% of the world's population and all human races equally. The factors that act as triggers of autoimmune processes and determine the appearance of OLP are represented by genetic predisposition, skin injuries, viral infections, contact allergies, and medications. OLP affects the oral mucosa and occurs frequently on the inside of the cheeks and less often on the edges of the tongue, gums, or lips. The condition is manifested by the appearance of painful erosions and mouth ulcers, accompanied by erythema and gingival scaling, and sometimes localized inflammation of the gums, near the amalgam fillings. There are 132 genes currently involved in the etiopathogenesis of OLP, but only a few appear to play a major role. These genes have been termed "leader genes". Thus, based on bioinformatics studies, the main genes involved in the pathogenesis of OPL are JUN, EGFR, FOS, IL2, and ITGB4. Although genetic status, immune system background, and infectious diseases are considered to be the most important incriminating and determining factors, the etiopathogenesis of OLP remains poorly known. Further genetic research is needed in order to achieve the generalizability of the findings and to strengthen the obtaining results.

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“…Pathogenesis of multifactorial diseases involves the integration of genetic and environmental factors over time [27]- [29].…”

Section: O Familial Olpmentioning

confidence: 99%

Oral Lichen Planus Genetics Update

Albu

Bencze

Dragomirescu

et al. 2022

EJDENT

Self Cite

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“…5,6 The incidence of 46, XX testicular DSD is estimated at 1/20,000 newborn males. 7,8 Approximately 80% of individuals with 46, XX testicular DSD are SRY positive, and are characterized by the presence of 46, XX karyotype with virilized typical male external genitalia. 9 But these individuals are infertile, as they lack the AZF loci on the long arm of the Y chromosome (Yq) that allow normal spermatogenesis.…”

Section: Introductionmentioning

confidence: 99%

Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases

Liu,

Zhang,

Zhang

et al. 2024

Prenatal Diagnosis

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BackgroundGenerally, the translocation of SRY onto one of the X chromosomes leads to 46, XX testicular disorders of sex development, a relatively rare condition characterized by the presence of testicular tissue with a 46, XX karyotype. Three prenatal cases of unbalanced X; Y translocation carrying SRY were identified in this study.MethodsStructural variants were confirmed using single nucleotide polymorphism array and chromosomal karyotyping. X chromosome inactivation (XCI) was also analyzed. Detailed clinical features of the three cases were collected.ResultsWe identified two fetuses with maternal inherited unbalanced X; Y translocations carrying SRY and skewed XCI presenting with normal female external genitalia, and one fetus with de novo 46, XX (SRY+) and random XCI manifested male phenotypic external genitalia.ConclusionThis study reports that cases with unbalanced X; Y translocations carrying SRY manifested a normal female external genitalia in a prenatal setting. We speculate that the skewed XCI mediates the silence of SRY. In addition, our study emphasizes that combining clinical findings with pedigree analysis is critical for estimating the prognosis of fetuses with sex chromosome abnormalities.

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“…The etiology of supernumerary teeth is heterogeneous, highly variable and idiopathic in a large portion of cases [3][4][5]. This condition is normally asymptomatic and may be diagnosed by a routine radiographic exam [6,7].…”

Section: Introductionmentioning

confidence: 99%

Extraction of supernumerary teeth in a hospital setting: case report in pediatric dentistry

Paashaus

FAZOLI

Gisfrede

et al. 2022

RGO, Rev. Gaúch. Odontol.

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The diagnosis and treatment of supernumerary teeth pose a challenge for dental clinicians and pediatric dentists. These teeth are asymptomatic and may cause the delayed eruption of the permanent dentition, altered bone growth and ectopic positioning. This paper reports a case of the surgical removal of supernumerary teeth in the anterior region of the maxilla of a child under general anesthesia in a hospital setting. A six-year-old female patient visited a private dental office in the city of Garanhuns, Brazil, accompanied by her mother, who reported a tooth with a “strange shape” in the anterior region as the main complaint and also reported that her daughter’s first dental experience was negative. The clinical examination and imaging tests were performed under general anesthesia to confirm the diagnosis. In view of the patient’s dental and behavioral history, surgical treatment was performed in a hospital setting and assisted by a multidisciplinary team. Care in the hospital setting was found to be feasible, providing greater comfort for uncooperative patients.

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Phenotypic heterogeneity of non-syndromic supernumerary teeth: genetic study

Cited by 13 publications

References 39 publications

Oral Lichen Planus Genetics Update

Oral Lichen Planus Genetics Update

Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases

Extraction of supernumerary teeth in a hospital setting: case report in pediatric dentistry

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