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Nevoid basal cell carcinoma syndrome (Gorlin syndrome)
Full text linkAbstract Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic therapy and topical chemotherapy. Radiotherapy should be avoided. Vitamin A analogs may play a preventive role against development of new BCCs. Life expectancy in NBCCS is not significantly altered but morbidity from complications can be substantial. Regular follow-up by a multi-specialist team (dermatologist, neurologist and odontologist) should be offered. Patients with NBCCS should strictly avoid an excessive sun exposure.</p
Diagnosi, prognosi e terapia delle lesioni precancerose orali. Fattori prognostici: markers molecolari.
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Il comportamento dell'osso crestale intorno a un nuovo impianto con superficie trattata al laser e platform switching: case report e considerazioni biologiche
No full textLa valutazione del metabolismo osseo nella chirurgia ricostruttiva delle ossa mascellari.
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Diagnostic Tools for Oral Mucosa Lesions
No full textLesions of the oral mucosa represent a diagnostic challenge for dental practitioners, because similar appearances are the final common manifestation of a wide spectrum of conditions, including autoimmune diseases; neoplastic, traumatic, or infectious lesions; nutritional deficiencies; and drug reactions, as well as oral manifestations of systemic diseases. One of the roles of dental practitioners is the identification and management of oral mucosa diseases. While the diagnosis of some oral lesions can be made on the basis of the history and/or clinical findings, for others, the definitive diagnosis requires the aid of some tools with which the general dentist should be familiar
Markers dei processi proliferativi e riparativi e le molecole di adesione nella rigenerazione ossea.
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