Syndromes

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Syndromes à delayed eruption

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Cleidocranial dysplasia, Gardner's syndrome, Ellis-van Creveld , Crouzon's syndrome, Osteogenesis imperfecta, Down's syndrome, Rickets (infantile), Goltz syndrome, Pyknodysostosis. (d-o-g-c-c)

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Syndromes à hyperdontia-supernumary

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Apert, Cleidocranial dysotosis, Crouzon, Ehlers-Danlos, Gardner, Sturge Weber. (s-a-g-e-c-c)

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Syndromes à hypodontia or anodontia

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Crouzon, Down, Ehlers-Danlos, Ectodermal dysplasia, Hurler, Sturge Weber. (h-e-e-d-s-c)

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Syndromes à premature exfoliation of teeth

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Hypophosphatasia, Papillon LeFevre, Dentinal dysplasia type 1, Regional odontodysplasia, Down syndrome, Aggressive periodontitis, Diabetes or immunocompromised Trauma. (p-a-t-h-d-d)

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Autosomal dominant or spontaneous mutation à short stature, large heads with frontal bossing and ocular hyperteleorism, midface hypoplasia resulting in relative mandibular prognathism, clavicles absent or hypoplastic, prolonged retention of primary teeth and delayed eruption of permanent teeth and often exhibits supernumary teeth: permanent teeth lack secondary cementum, Wormian bones in skull

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Cleidocranial dysplasia

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Autosomal dominant, Children-usually found by age 5, Symmetric bilateral asymptomatic swelling of the jaws, upturned gaze, multilocular RL’s = giant cell lesions. Permanent teeth may be malformed or missing. Self-limiting after puberty. Hiso: like CGCG.

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Cherubism

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Autosomal dominant or spontaneous, maxillary hypoplasia; shallow orbits, wideset eyes, divergent strabismus and exophthalmos; high palate, Retardation "Frog-like" facies; short philtrum, posterior crossbite with ant. open bite, premature cranial suture closure with increased cranial pressure. **Crouzon's and Apert’s = most common craniosynostosis syndromes.

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Crouzon's Syndrome

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Autosomal dominant, MULTIPLE – OKC’s, basal cell carcinomas and epidermoid cysts. Palmar-plantar pitting. Large calvaria, Calcification of falx cerebri, bifid ribs, ovarian fibromas.

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Basal Cell Nevus Syndrome

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Group of inherited conditions in which 2 or more ectodermally derived anatomic structures fail to develop. Fine sparse blond hair, fine wrinkling, hypodontia, hypotrichosis, hypohydrosis, cone-shaped teeth.

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Ectodermal Dysplasia

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Metabolic disorder resulting from deficiency of lysosomal enzymes involved in the degradation of mucopolysaccharides, autosomal recessive, skeletal abnormalities, stiffened joints; short stature, Hurler disease is also called gargoylism or dyostosis multiplex.

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Mucopolysaccharidoses

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Clinically evident by age two--patient usually dies by age 25 due to cardiopulmonary disease, short stature; hepatosplenomegaly; hernias normal mental capacity; sleep apnea-airway obstruction; corneal clouding Dysostosis multiplex; thickened skin; hearing loss (12%)

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Hurler-Scheie Syndrome

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CT disorder-defect [fibrillin (FBN1) gene] = dec collagen strength. Autosomal dominant (1:10,000 people). Tall, slender stature with loose joints, long fingers, high arched palate; near-sighted, dislocation of lens; myopia (near-sightedness), mitral valve prolapse; dilatation of ascending aorta; dissecting aneurysm of aorta.

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Marfan's Syndrome

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Fragile bones; ligament laxity, blue sclerae, hearing loss, mitral valve clicks 65% have large calvaria, bowed extremities, inborn error of collagen synthesis/maturation (TYPE 1 collagen). Causes type 1 dentinogenesis imperfecta.

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Osteogenesis Imperfecta

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Severe micrognathia, high palate; glossoptosis, can have U-shaped cleft palate, downward position of the tongue due to retropositional attachment of genioglossus, infant can have respiratory and feeding problems, normal profile is often achieved by age 4-6

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Pierre Robin Syndrome

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aka mandibulofacial dysostosis, bird-like or fish-like facies, retruded chin with prominent nose, colobomas (notches) of lower eyelid, low set ears, deformed, conductive hearing loss, 30% have cleft palate. Defect in inferior alveolar artery can cause anatomic deficits, mandibular hypoplasia; midface deficiency.

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Treacher-Collins Syndrome

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Defect in synthesis and structure of Type I, III, or V collagen à fragile CT. Joint hypermobility; skin hyperextensibility. Cardiovascular anomalies; possible bleeding problems, need antibiotic prophylaxis. Spontaneous pneumothorax. Narrow maxilla, flattened midface, hyperextensible tongue, TMJ problems.

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Ehlers-Danlos Syndrome

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Tall forehead with flattened occiputal; premature suture closure, ocular proptosis with downward slant to corners of eye, mid-face hypoplasia; mouth breather (Class III with anterior open bite, syndactyly of fingers and toes, mental retardation; acne-like eruption on forearm, 75% soft palate cleft, bifid uvula, V-shaped arch; shovel shaped incisors; mucosal swellings.

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Apert's Syndrome

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Unilateral localized overgrowth of facial soft tissue, bones, and teeth. Rare, intraorally the tongue and mucosa on the affected side can have folds and be markedly enlarged. Teeth can have abnormalities in size and shape; malocclusions. Can be associated with vascular abnormalities, mental retardation, and increased incidence of Wilm's tumor.

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Hemifacial Hypertrophy

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Opposite of Hemifacial Hypertrophy. Atrophic change affecting one side of face. Unknown cause; some evidence for hereditary basis, represents localized scleroderma. Affects a dermatome of trigeminal nerve. Onset in first two decades of life. Mouth and nose are deviated to affected side. Teeth deficient; posterior open bite on one side.

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Parry-Romberg Syndrome

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Atrophy begins with skin and underlying structures and may progress to nderlying bone. Overlying skin often exhibits dark pigmentation Sharp line of demarcation--coup de sabre -large linear scar

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Parry-Romberg Syndrome II:

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Varying degrees of retardation, > 35 yrs à Alzheimer’s, midface hypoplasia; delayed eruption, hypodontia and microdontia more common; fissured enlarged tongue; greater incidence of periodontal disease and infections; crossbite common; mouth-breathers, thyroid dysfunction in 50%, increased risk of ALL (leukemia), cardiac abnormalities relatively common; 50% mitral valve prolapse.

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Down syndrome

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X linked mental retardation, accounts for 25% of all mentally disabled males long narrow face, large ears; high arched palate; crossbites, mitral valve prolapse in 80% of males, repetitive speech pattern, autism.

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Fragile X Syndrome

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Palmoplantar hyperkeratosis, lack of resistance to periodontal disease; defective neutrophil chemotaxis à tooth loss within 2-3 years post-eruption No Tx.

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Papillon-Lefevre Syndrome

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Affects mainly middle aged females usually of northern European descent à painful red tongue with mucosal atrophy; spoon shaped nails • Iron deficiency anemia, dysphagia, esophageal webs, **Predisposition for development of oral SCCA.**

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Plummer-Vinson Syndrome

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Fissured tongue, facial paralysis, enlargement of the lower lip.

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Melkersson-Rosenthal Syndrome

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Granulomatous inflammation especially of the lips—non-tender, persistent enlargement. Diagnosis of exclusion---eliminate other disorders associated with granulomatous inflammation

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Orofacial Granulomatosis

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aka auriculo-temporal syndrome, following parotid surgery, trauma, mandibular surgery, parasympathetic nerve fibers may be severed à sweating, flushing, warmth, and occasional mild pain during enhanced salivary stimulation when eating food.

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Frey syndrome

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Oral Granulomatosis can be seen with:

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Chronic granulomatous disease, Crohn's disease, Hairy cell leukemia Mycobacterial infection, Sarcoidosis

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PFAPA

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Periodic fever, Aphthous ulcers, Pharyngitis, Cervical Adenitis in children.

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Oral ulcers, conjunctivitis, inflamed tender skin papules or nodules (acute neutrophilic dermatosis)

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Sweet's Syndrome

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herpes zoster of the face, facial paralysis hearing deficits, vertigo, auditory vestibular symptoms, cutaneous lesions of external auditory canal.

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Ramsey Hunt syndrome

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Mouth And Genital ulcers, Interstitial Chondritis (inflamed cartilage), considered a variant of Behcet's syndrome

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MAGIC syndrome

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Focal epithelial hyperplasia, HPV 13 or 32, esp. American Indians and Inuits

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Heck's Disease

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Sarcoidosis, lacrimal/salivary swelling, uveitis, uveoparotid fever.

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Heerfordt's syndrome

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aka encephalotrigeminal angiomatosis, port wine stains in area of trigeminal nerve, seizures, mental retardation, "tramline" brain calcifications on the affected side, may have hypervascular enlarged gingiva on affected side--­hemorrhage potential. Hyper/hypo-dontia.

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Sturge Weber Syndrome

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aka Rendu Osler Weber, numerous vascular hamartomas-multiple red papules, prone to brain abscesses, antibiotic premedication if pulmonary arteriovenous malformation, can have frequent epistaxis.

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Hereditary Hemorrhagic Telangiectasia

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Mental retardation, seizure disorders, angiofibromas of the skin, primarily in the nasolabial fold and around fingernails, shagreen (sharkskin-like) skin patches, cardiac rhabdomyomas common.

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Tuberous sclerosis

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: HLA-B51 subtype, multiple aphthous ulcers especially soft palate and oropharynx, genital ulcerations, ocular involvement-uveitis or conjunctivitis, cutaneous pathergy---pustule develops within 24 hours of injection of sterile saline.

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Behcets

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Young adult men, HLA-B27, syndrome can develop 1-4 weeks after an episode of dysentary or venereal disease, nongonococcal urethritis (erythema migrans like lesions on genitals), painless ulcerations orally resembling geographic tongue! erythema migrans, peripheral arthritis, especially lower extremities, lasting more than one month.

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Reiters

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aka Albers-Schonberg disease or marble bone disease; multiple forms, generalized symmetric increase in skeletal density (opacification) and defective bone resorption (reduced osteoclastic function), bone pain, cranial nerve compression, pathologic bone fractures, anemia, blindness and deafness, delayed eruption, missing teeth, enamel hypoplasia, osteomyelitis.

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Osteopetrosis

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Hyperactive bone turnover à dentures (and hats) too small; 3 phases: - Resorptive phase - Vascular phase - Sclerotic phase, over 50 years of age; Maxilla 2:1, bilateral symmetric jaw enlargement; cotton-wool radiopacities late with microscopic mosaic bone formation, (reversal lines), deep aching bone pain; neurological complaints due to narrowing of foramina-hearing loss Elevated serum alkaline phosphatase with normal serum calcium and phosphate. Tx: bisphosphonates or calcitonin.

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Paget's Disease of Bone

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caused by pituitary adenoma after puberty most often presents in the 40's; sleep apnea; course features develop; skin tags, muscle weakness, deep voice; mandibular prognathism; enlargment of the hands and feet, enlargement of the jaws à diastema; complete posterior crossbite; macroglossia.

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Acromegaly

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deficiency of tissue and serum alkaline phosphatase, increases serum phosphoethanolamine, beaten copper skull appearance, premature loss of primary teeth (lack cementum),enlarged pulp chamber in primary teeth with alveolar bone loss, short stature, bowed legs, waddling gait.

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Hypophosphatasia

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primary form most likely due to parathyroid adenoma; secondary form due to renal failure or malabsorption syndrome. Elevated serum calcium and alkaline phosphatase; elevated PTH,“stones, moans, bones and groans,” multiple jaw radiolucencies(Brown Tumors) with giant cell appearance microscopically, can exhibit loss of lamina dura and pulpal calcification.

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Hyperparathyroidism

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Premature exfoliation of primary teeth or rapid eruption of permanent teeth dental erosion 3x as likely, osteoporosis, females 5:1; Grave's disease, heat intolerance, weight loss, hyperhydrosis, diarrhea, thin hair, exophthalmos.

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Hyperthyroidism

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aka Caffey's disease, usually occurs within the first year of life, short lived self-limited proliferative bone disease of undermined etiology,thickening of cortex especially mandible with swelling of overlying tissue.

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Infantile Cortical Hyperostosis

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aka "Caffey's Disease"

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Infantile Cortical Hyperostosis