Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians

Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by various (epi)genetic alterations affecting the expression of genes on chromosome 11p15. Cardinal features include abdominal wall defects, macroglossia, and cancer predisposition. Several (epi)genotype–phenotype associations were described so far, but specific studies on the evolution over time of maxillo-facial phenotype in the molecular subtypes still are scanty. The aim of this cross-sectional study was to associate maxillo-facial morphology and growth pattern with genoype in 25 Caucasian children with BWS and macroglossia. Twelve patients experienced a loss of metilation at imprinting center 2 (IC2-LoM), five had mosaic paternal uniparental isodisomy of chromosome 11 (UPD(11)pat), and eight were negative. A more marked tongue enlargement was detected in patients with IC2-LoM and negative genotype, while UPD(11)pat children showed mild macroglossia (p = 0.048). A cluster analysis did not demonstrate any specific relationship between (epi)genotype and maxillo-facial phenotype, but separated BWS patients based on their cephalometric characteristics. Children with IC2-LoM or negative genotype displayed hyperdivergence values > 30°, clockwise growth tendency, and skeletal class II into the same cluster. They had a negative prognostic score. These preliminary data suggest the need for developing individualized protocols for early monitoring of the craniofacial growth in such patients

Oral Health-Related Quality of Life among Children and Adolescents with Beckwith–Wiedemann Syndrome in Northern Italy

Due to associated maxillofacial growth anomalies and the impairment of oral functions, macroglossia may negatively impact the oral health-related quality of life (OHRQoL) of people with Beckwith–Wiedemann syndrome (BWS). Therefore, the aim of this cross-sectional study was to determine the OHRQoL of Italian children and adolescents with BWS compared to healthy peers and to identify which symptoms related to macroglossia had the highest impact. A total of 48 patients with BWS and 48 age- and gender-matched controls completed the Italian version of OHIP-14 and a questionnaire on functional, oral and aesthetic outcomes. Parents of patients with BWS who had undergone tongue reduction surgery (TRS) answered additional questions related to surgery. The BWS group scored higher than controls on the total OHIP-14 and on the dimensions of oral function (p: 0.036) and psychosocial impact (p: 0.002), indicating a reduced OHRQoL. Neither gender nor age had an impact on OHRQoL. Scores were worse in children and adolescents treated with TRS, as most of them still had open bite malocclusion and speech difficulties. The OHRQoL of children and adolescents affected by BWS is worse than that of their healthy peers in spite of the surgical treatment of macroglossia

Oral lichen planus clinical characteristics in Italian patients: a retrospective analysis

Background: Oral lichen Planus (OLP) is a chronic inflammatory disease involving skin and mucous membranes. Its etiology is still uncertain whilst an autoimmune mechanism is known to be implicated. OLP is commonly considered a geriatric disease and gender differences in prevalence are clear, whereby females are generally more frequently affected than males more often during the 5th and 6th decades of life. Lesions are symmetrical and bilateral and the buccal mucosa is frequently involved. The risk of malignant transformation is extremely low. This study aims to describe both the clinical characteristics and the prevalence of OLP among a group of patients from Southern Italy. The results of the present study were compared to analogous retrospective studies. Methods: Eighty-seven (31 man and 56 woman) cases of OLP were retrospectively reviewed and demographic and clinical data were collected. Data about OLP as clinical forms, oral and extraoral sites involved and Visual Analogue Scale were also recorded. Results: The average age of OLP onset was 59.2 years. The most common clinical presentation was the hyperkeratosic type. Symptomatic OLP was noted in 26.8 % of the patiens. The most frequently affected oral sites were buccal mucosa, tongue, gums. The most frequently associated systemic diseases were diabetes, hypertension, C hepatitis and thyroiditis. Only one patient developed a malignant transformation (1.2 %). Conclusions: Previous retrospective studies report data partially comparable with our results. Different geographic area, number of enrolled patients and OLP classification criteria may justify the observed differences

ORO-DENTAL MANIFESTATIONS IN WEST SYNDROME

West Syndrome is a rare epileptic encephalopathy involving infantile spasms, altered electroencephalographic pattern with hypsarrhythmia, and psychomotor development delay. It arises in paediatric patients, generally within the first year of life, in symptomatic or idiopathic form depending on presence of hereditary features or not