Familial cleft tongue caused by a unique translation initiation codon variant in TP63

Variants in transcription factor p63 have been linked to several autosomal dominantly inherited malformation syndromes. These disorders show overlapping phenotypic characteristics with various combinations of the following features: ectodermal dysplasia, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypoplastic breasts and/or nipples, ankyloblepharon filiforme adnatum, hypospadias and cleft lip/palate. We describe a family with six individuals presenting with a striking novel phenotype characterized by a furrowed or cleft tongue, a narrow face, reddish hair, freckles and various foot deformities. Whole-exome sequencing (WES) identified a novel heterozygous variant, c.3G>T, in TP63 affecting the translation initiation codon (p.1Met?). Sanger sequencing confirmed dominant inheritance of this unique variant in all six affected family members. In summary, our findings indicate that heterozygous variants in TP63 affecting the first translation initiation codon result in a novel phenotype dominated by a cleft tongue, expanding the complex genotypic and phenotypic spectrum of TP63-associated disorders.

Evaluation of periodontal condition in individuals with down syndrome: a case-control study

Ogival palate, macroglossia, anodontia, cleft tongue, delayed tooth eruption, low prevalence of caries and high prevalence of periodontal disease are the main oral manifestations of Down syndrome. The aim of the present observational study was to evaluate the periodontal condition in individuals with Down syndrome. The study included 30 individuals who were selected according to the age group to be studied, between 17 and 25 years old, in a local institution for the care of Down syndrome (DG) patients and 30 individuals who made up the control group and who did not have Down syndrome (CG), periodontal parameters were observed in both groups that were adjusted for habits. The results showed for the Plaque Index 41.2% of the individuals in the DS group while in the CG group in 45.5% without statistical difference. For the Gingival Index, it was observed that 39.7% in the DS group and in the CG group 44.2% without statistical difference between the groups (p <0.05). Family and institutional participation collaborates in the daily control of dental biofilm. In the present study, individuals in the DG group presented periodontal clinical parameters compatible with periodontal health and when compared to healthy individuals, they did not present clinical differences.

Migratory Glossitis Associated with Cleft Tongue: Case Report

Benign migratory glossitis, also known as geographic tongue, is characterized by the tongue inflammation and is associated with pain and difficulty eating due to the lingual papillae atrophy. It may appear in association with the fissured tongue. This paper reports the case of a 47-year-old male patient who sought dental care with the main complaint of burning, discomfort, increased sensitivity and a burning sensation on the tongue. He was diagnosed with migratory glossitis associated with a fissured tongue. The patient treatment was performed with an ointment based on triamcinolone acetonide (Omcilon- A Orabase®), which showed improvement in the clinical signs after seven days. The therapy used in this patient was effective in restoring the tongue papillae and improving signs and symptoms. Keywords: Glossitis, Benign Migratory. Tongue, Fissured. Oral Medicine ResumoA glossite migratória benigna, também conhecida como língua geográfica, caracteriza-se por inflamação da língua e está associada a dor e dificuldade na alimentação devido a atrofia das papilas linguais. Pode aparecer em associação à língua fissurada. Este trabalho relata o caso de um paciente do sexo masculino com idade de 47 anos que buscou atendimento odontológico com queixa principal de ardência, desconforto, sensibilidade aumentada e sensação de queimação na língua. Foi diagnosticado com glossite migratória associada a língua fissurada. O tratamento do paciente foi realizado com pomada à base de triancinolona acetonida (Omcilon- A Orabase®) demonstrou melhora no quadro clinico após sete dias. A terapêutica usada neste paciente foi eficaz no restabelecimento das papilas da língua e melhora dos sinais e sintomas. Palavras-chave: Glossite Migratória Benigna. Língua Fissurada. Medicina Bucal.

Management of oropharyngeal teratoma: Two case reports and a literature review

Pharyngeal teratomas are very rare congenital tumours derived from pluripotent stem cells. Surgical resection is the main treatment to avoid breathing and feeding difficulties. This current case report describes two newborn infants with congenital oropharyngeal teratomas. In one of the infants, the tumour presented along with a cleft tongue and cleft palate. Prenatal diagnosis by ultrasonography did not identify the tumours because the masses were small and there was no polyhydramnios. Both cases were treated surgically and histological examination of the masses in both cases confirmed the diagnosis of a congenital epignathus. There were no complications such as infection, bleeding or residual recurrence following surgery. After 1-year follow-up, there was no recurrence of the epignathus in either case. Oropharyngeal teratoma is a very rare congenital tumour that may cause upper airway obstruction and feeding difficulties in the newborn, so it should be treated surgically in a timely manner.

Giant sublingual hamartoma with medial cleft tongue: a case report and literature review

Hamartomas commonly occur in respiratory and digestive organs, such as the lungs, pancreas, and liver; they rarely occur in the oral cavity, especially in the sublingual region. This report describes a 5-month-old boy who presented with a giant sublingual hamartoma and medial cleft tongue. He underwent corrective operations at 5 months, 11 months, and 31 months of age. Histopathological analysis revealed features suggestive of hamartoma. There have been no signs of recurrence. The boy exhibited normal speech development at 3 years of age; all other oral functions were unaffected at that time. This report includes a review of relevant literature. The findings in this report and previous literature suggest that a multidisciplinary approach, carefully planned staged surgery, and rehabilitation are needed to achieve favorable outcomes in patients with hamartoma in the oral cavity.

Incomplete Midline Cleft of Lower Lip

Midline cleft of the lower lip is defined as a midline vertical cleft of the soft tissue of the lower lip. It may present with a midline cleft of the mandible. It may also be accompanied by other congenital anomalies such as a cleft tongue, ankyloglossia, a heart lesion, and absence of the hyoid bone. The etiologic cause is thought to be a failure of mesodermal penetration into the midline structures of the first branchial arch. This case report is on a female child who presented with an incomplete midline cleft of the soft tissue of the lower lip. It was surgically corrected with a vertical wedge excision and primary closure.