Quiz 5 Chapter 6 vocab

Dentin Dysplasia ( Type I: Radicualr)

• Autosomal Dominant

• Type I: Radicular (the teeth have normal crowns and abnormal roots)

• The teeth are generally exfoliated prematurely

• Multiple periapical radiolucencies are associated with this condition (root defects)

Dentin Dysplasia ( Type II: Coronal)

• Type II coronal

• Primary teeth are translucent with an amber color

• Adult teeth appear normal

• Permanet teeth may or may not have pulp stones

• Radiograph: thistle-shaped pulp chambers in single-rooted teeth and a bow-tie appearance of the pulp champers of permanent molars

Ectodermal Dysplasia (hypohidrotic)

• A genetic heterogeneity

• Characterized by: Hypodontia (partial adontia), Hypotrichosis (decreased hair), Hypohidrosis (decresed sweating)

• Although in the majority of the families it is inherited as an X-linked recessive trait, in some families it is inherited as an autosomal-recessive trait.

• Female carriers of the X-linked form have minor clinical manifestations such as thin or sparse hair, cone-shaped teeth, hypodontia, and variable degrees of reduced sweating.

Amelogenisis Imperfecta

• A group of inherited conditions affecting the enamel of the teeth with no assocated systemic defects

• There are four types of amelogenesis imperfecta, as described by Witkop and Sauk (pitted teeth)

Amelogenisis Imperfecta (Type 1)

• Hypoplastic amelogenisis imperfecta

• the tooth enamel does not develop to normal thickness

• autosomal dominant and autosomal recessive

• teeth have random to pinhead and the pits are observed mostly on the labial and buccal surfaces of the permanent teeth

Amelogenisis Imperfecta (type II)

• Hypocalcified amelogenisis imperfecta

• normal thickness but poorly calcified

• At eruption teeth appear yellow-orange enamel

• Enamel is very soft leaving only dentin

Amelogenesis Imperfecta (type III)

• Hypomaturation amelogenesis imperfecta

• Enamel is softer than normal (Snowcapped)

• Characterized: large amounts of enamel matrix; therefore the enamel is softer than normal

Amelogenesis Imperfecta (type IV)

• Hypoplastic-hypomaturation amelogenesis imperfecta

• Associated with taurodontic teeth

• Yellow to brown pitted enamel

• Hard to diagnose the exact type

• •Radiographically:

  Enamel has a radiodensity similar to dentin

  Single-rooted teeth have large pulp chambers

Hypophosphatasia

• Autosomal Recessive

• A decresed in serum alkaline phosphates levels

• Affects formation of bone and cementum

• Teeth do not have cementum and are exfoliated prematurely

• which shows the histologic section of a tooth from a patient with hypophosphatasia. The cementum is entirely lacking.

Peutz-Jeghers Syndrome 

• Autosomal Dominant

• Characterized by:

Multiple melanotic macular pigmentations

Gastrointestinal polyposis—hamartomas

•The pigmentations occur around the eyes, nose, and mouth.

White Sponge Nevus (Familial White Folded Mucosal Dysplasia)

•An autosomal-dominant inheritance pattern with complete penetration

•Characterized by:

White, corrugated, soft, folding buccal oral mucosa

Thick layer of keratin that desquamates and leaves a raw mucosal surface

Free gingiva is not affected

•This is also called Cannon disease.

Maxillary Exostosis

• An autosomal-dominant inheritance pattern

• Occurs on the buccal aspect of the maxilla

• May be single, multiple, unilateral, or bilateral

• These are generally symptomless unless traumatized

Osteogenesis Imperfecta

• Thirty Percent: an autosomal-dominant inheritance pattern with variable expression

• Seventy percent: sporadic cases suggesting autosomal-recessive in heritance

• Mutations occur that affect collagen, resulting in abnormally formed bones that fracture easily

• In mildest cases, individuals may only show blue sclera (that portion of the eye that is usally white)

Osteogenesis Imperfecta (2/2)

• Dentinogenesis imperfecta-like condition

• Microdontia

• Teeth appear opalescent or translucent but darken with age

• Enamel is lost because of abnormal dentin

• •Multiple spontaneous bone fractures are the main clinical complication of this syndrome.

Nevoid Basal Cell Carcinoma Syndrome  (Gorlin Syndrome)

•An autosomal-dominant inheritance pattern with high penetrance and variable expressivity

•Characterized by:

Mild hypertelorism (increased distance between the eyes)

Mild prognathism

Frontal and parietal enlargement

A broad nasal root

•Oral lesions consist of multiple cysts of the jaws; histologically, they are odontogenic keratocysts (OKCs)

Nevoid Basal Cell Acarcinoma Syndrome (Gorlin Syndrome) 2/2

•Nevi are observed on the skin; typically, they are basal cell carcinomas

•Skeletal anomalies include:

Bifurcation of ribs

Shortening of metacarpals

Spina bifida occulta

Kyphoscoliosis

•Various neoplasms include:

Medulloblastoma

Calcified ovarian fibromas

Mesenteric cysts

•Cysts can develop as early as 5 to 6 years of age in some affected patients; these cysts interfere with normal development of the jawbones and teeth.

Gardner Syndrome (Familial Colorectal Polyposis)

•An autosomal-dominant inheritance pattern with variable expressivity and marked penetrance

•Characterized by osteomas in various bones

•Osteomas of the facial skeleton will obliterate the sinuses and cause facial asymmetry

•Multiple odontomas can occur in jawbones

•Intestinal polyps occur that will become malignant at age 30 or later

Cleidocranial Dysplasia

•Autosomal dominant, but about half of the cases are isolated examples caused by spontaneous mutation or a gene with poor penetrance

•The fontanelles remain open and the cranium develops a mushroom shape

•The neck is long and narrow as a result of unilateral or bilateral hypoplasia of clavicles

•The premaxilla is generally underdeveloped, resulting in pseudoprognathism

•Patients have many supernumerary teeth, which are crowded in the jaws and do not erupt

•Multiple cysts can develop in association with impacted teeth

Ehlers-Danlos Syndrome

• a group of rare inherited connective tissue disorders caused by defects in the structure or processing of collagen

• Characterized: unusally loose and weaken joints, skin hyperelasticity, patients more prone to joint issues (TMJ), severe brusing and bleeding

• Oral: delicate mucosa, weakened gingiva tissue, BOP

• able to touch their nose w/ tongue (gorlin sign)

Papillon-Lefevre Syndrome

•An autosomal-recessive inheritance pattern

•Peripheral blood neutrophils are depressed, and the theory is that chemotaxis is depressed

•Hyperkeratosis of the palms of the hands and soles of the feet

•The lesions on the hands and feet remain as reddish-white, scaly thick areas of hyperkeratinization.

•At about 1½ or 2 years of age, a gingivoperiodontal inflammatory process develops: Edema, bleeding, alveolar bone resorption, mobility of teeth

•Both primary and permanent dentition are lost prematurely

Klinefelter Syndrome

•Most are from nondisjunction of the X chromosome

•Male phenotype

•Not detected clinically until puberty

Taller than normal

Wide hips

Female pubic hair distribution

Development of female breasts

Intelligence levels may be lower than normal

Testes are smaller and harder

•The maxilla is slightly hypoplastic

May be XXXY or XXXXY

Trisomy 13

• Multiple abnormalities in various organs

• 70% die within the first 7 months of life

• Characteristic facial clinical findings include:

Bilateral cleft lip and palate

Microphthalmia (small eyes) or anophthalmia (no eyes), polydactyly (supernumerary digits)

Trisomy 21 (down syndrome)

•Nondisjunction

•Associated with late maternal age

Slanted eyes

Shorter stature

Heart abnormalities

Varied intelligence levels

Fissured tongue

Gingival and periodontal disease has been reported in 90% of affected individuals

Hypodontia (fewer teeth than normal)

Abnormally shaped teeth

Anomalies in eruption with malposition and crowding of teeth are common

Cyclic Neutropenia

•An autosomal-dominant condition

•Characterized by a cyclic decrease in the number of circulating neutrophils

•Systemic manifestations include fever, malaise, sore throat, and occasional cutaneous infections

• Oral: severe ulcerative gingivits or gingivostomatitis, and ulcers

•Kostmann syndrome or chronic neutropenia: Autosomal-recessive condition

•The disorder is characterized by a cyclic decrease in the number of circulating neutrophilic leukocytes.

•A decrease in the number of circulating neutrophils is called neutropenia.

Cherubism

•Autosomal dominant with marked penetrance in males and variable expressivity and incomplete penetrance in females

•Clinical manifestation

Progressive bilateral facial swelling that first appears when the patient is 1½ to 4 years of age

Ocular hypertelorism (incresed distance between eyes)

Microscopically, bone lesions resemble central giant cell granuloma

Radiographs of the jaws reveal a characteristic “soap bubble” or multilocular appearance

Dentinogenesis Imperfecta

• Multiple types

• Associated with osteogenesis imperfecta

• Hereditary opalescent dentin (Type II)

• No pulp chambers or root canals are seen

• Roots are short and thin with periapical radiolucencies

Hereditary Hemorrhagic Telangiectasia

•Autosomal dominant

•Characterized by:

Multiple capillary dilations of skin and mucous membranes called telangiectases

Lesions in mucosa of the nasal cavities may cause epistaxis (nose bleeds)

Risk of gingival hemorrhage