Syndromes of Head and Neck - Oral and Maxillofacial Pathology - Lecture Slides, Slides of Oral Biology

Download Syndromes of Head and Neck - Oral and Maxillofacial Pathology - Lecture Slides and more Slides Oral Biology in PDF only on Docsity! 1 (Some) Syndromes of the Head and Neck Pierre Robin sequence (anomalad) • Snail gene ????? • Cleft palate • Mandibular micrognathia • Glossoptosis – Posterior tongue displacement – Lack of musculature tongue support – Airway obstruction Down Syndrome • Oral manifestations – Periodontal disease – Broad dry and fissured lips – Macroglossia – Delayed eruption of teeth – Hypodontia and morphologic variations – Orthodontic anomalies Docsity.com 6 Gingival fibromatosis • Gingival hyperplasia can be associated with medications – Anticonvulsants – Calcium channel blockers – Cyclosporine – Erythromycin – Oral contraceptives • Gingival hyperplasia may be an isolated condition unrelated to medications • Gingival hyperplasia may part of a syndrome Syndromes with gingival fibromatosis • Laband • Murray-Puretic-Drescher • Rutherford • Part of Cowden • Cross Romberg Syndrome • Progressive hemifacial atrophy • One sided • Begins by the 2nd decade of life • Affects dermatome of one or more branches of the trigeminal nerve • Sharp line of demarcation on forehead • Osseous hypoplasia • Dark pigmentation of overlying skin Docsity.com 17 Multiple Endocrine Neoplasia, Type IIB • MEN I: tumors of pancreatic islets, adrenal cortex, parathyroid glands and pituitary gland • MEN IIA: Sipple syndrome, pheochromocytomas and medullary thyroid carcinoma • MEN IIB: MEN IIA and mucosal neuromas Multiple Endocrine Neoplasia, Type IIB • A.D.; 50% new mutations • Mutation of ret proto-oncogene, chr.10 • Marfanoid phenotype • Narrow face, thick lips, everted upper eyelid • Neuromas on conjuctiva, eyelid margin or cornea • Oral lesions may be the first sign – Lips, anterior tongue, buccal mucosa, gingiva, palate, bilateral commissural neuromas Multiple Endocrine Neoplasia, Type IIB • Pheochromocytoma – Secretion of catecholamines – Sweating, diarrhea, headaches, flushing, heart palpitations and hypertension • Medullary carcinoma of the thyroid – Calcitonin production – Highly metastatic Docsity.com 21 Osteoma and Gardner Syndrome • Osteomas are benign tumors composed of mature compact or cancellous bone • Restricted to the craniofacial skeleton Gardner Syndrome • Autosomal dominant • Spectrum of diseases comprised of * familial colorectal polyps (will transform to adenocarcinomas) * Osteomas (90% of cases) common in the skull, paranasal sinuses and mandible * Epidermoid cysts * Desmoid tumors (locally aggressive fibrous neoplasms) * Increased incidence of thyroid carcinoma Treatment and Prognosis • By age 30, 50% of patients will develop colorectal carcinoma; Prophylactic colectomy Tuberous Sclerosis (Epiloia, Bourneville-Pringle syndrome) • TSC1 (chr. 9) and TSC2 (chr. 16) • Mental retardation • Seizures • Angiofibromas – Smooth surfaced papules – Nasolabial folds – Periungual or ungual fibromas Docsity.com 23 Hereditary hemorrhagic telangiectasia • HHT1: endoglin gene; chr.9 – Pulmonary involvement; more sever disease • HHT2: ALK-1 – Less severe disease • Telangiectasias • Epistaxis, hands and feet hemorrhagic lesions • Iron deficiency • Lung, liver and brain AVMs and fistulas Sturge-Weber Angiomatosis • Port wine stain (nevus flammeus) • Encephalotrigeminal angiomatosis • Vascular hamartomas • Brain, face • Persistence of the vascular plexus around the cephalic portion of neural tube • Other areas may be affected Sturge-Weber Angiomatosis • Convulsions • Mental retardation • Gyriform calcifications • Oral lesions – Vascular hyperplasia – Can be massive or focal Docsity.com