ORAL PATHOLOGY: lecture 2
Terms in this set (71)
-material in most organisms that transmits inheritance
-is located in the cell nucleus
-all cells of a given individual have identical __
-these strands are arranged in a double helix formation that serve as a pattern for duplication, so that inherited characteristics can be passed on to new generations of cells
-newly formed cells should contain an exact copy of __ from parent cell
DNA molecules are packaged into tiny units of organization called __.
-only visible in the cells nucleus when it is dividing
is the central point of the chromosome that separates the chromosome into two sections or "arms"
-long arm is "q"
-short arm is "p"
are segments or sequences of the DNA that determine specific traits or characteristics of a person
-is a unit of nucleoprotein that carries the basic instructions for a characteristic capable of being passed on to offspring.
-determines eye color, hair color, tooth shape, etc.
the precise part of a gene that actually determines specific color or shape is called an __.
--MAKES US UNIQUE
is the term used to describe the number and appearance of chromosomes in the nucleus
-normal contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes
the study of karotypes is part of __
depicts pairs of chromosomes taken from the nucleus of a cell.
refers to the correct or normal number of chromosomes
-23 pairs of chromosome, 46 total
the majority of human cells are __, having the normal two sets of chromosomes.
reproductive or sex cells have half the number of chromosomes and are termed __.
_ cells are missing one or more chromosomes
__ is the term used when there are three rather than the normal two chromosomes.
refers to a cell with one chromosome, a condition that does not support life.
occurs when a portion of the chromosome goes missing during cell division
occurs when two chromosomes exchange parts
occurs when the chromosome breaks and is reinserted in the wrong location
pattern or gene transmission
the way the gene is expressed or becomes operational
twenty two pairs of chromosomes out of the normal 23 pairs, are called __
-appear the same in male and female
the twenty third pair of chromosome is the _
-differs between male and female
how many alleles are there for each inherited trait?
the allele that was expressed
the allele that was not expressed
AUTOSOMAL RECESSIVE DISORDER
requires two copies of the disease allele for a person to be affected
-usually have unaffected parents who each carry a single copy of the disease allele
X LINKED RECESSIVE DISORDER
caused by mutations in genes on the X chromosome
-males are more frequently affected
-disease appears ONLY when two carriers have kids, diseases are hemophilia, sickle cell, etc.
AUTOSOMAL DOMINANT DISORDER
requires only one copy of the gene for person to be affected.
carriers are usually seen in __ disorders.
is the proportion of individuals carrying a particular variation of a gene or allele that also express an associated trait.
refers to the range of signs and symptoms that may occur in different people with the same genetic condition.
-is the degree of clinical manifestations of a trait or characteristic.
an individuals __ is the set of genes that it carries -- its full hereditary info.
-is an individuals genetic composition
an individuals _ is all of its visibly observable characteristics that are created by the gene's codes.
-is the observable appearance.
is the permanent change in the DNA sequence that makes up a gene.
-may occur before or after birth
is a collection of signs and symptoms that occur together and characterize a particular abnormality or condition.
-is inherited in an autosomal recessive manner and is characterized by both dermatological and oral manifestations.
-is caused by a mutation in the cathepsin C gene that leads to loss of cathepsin C function.
-clinical features are keratosis, advanced periodontitis, dystrophic lesions of the nails, increased sweating, and keratosis of elbows and knees.
-abnormal skin and ability to fight infection
HEREDITARY GINGIVAL ENLARGEMENT
-autosomal dominant and recessive transmission modes.
-isolated or syndromic forms
-generalized enlargement of attached gingiva
-presents as a localized or generalized enlargement of the attached gingiva.
is a rare hereditary autosomal recessive disorder caused by the lack catalase enzyme
-catalase job is to assist in the decomposition of hydrogen peroxide, a harmful byproduct of many normal metabolic processes.
-periodontal destruction and early tooth loss
-usually part of a "syndrome"
-often have extensive oral ulcerations
HYPOHIDROTIC ECTODERMAL DYSPLASIA
is a group of more than 150 conditions that are characterized by defects in development of two or more tissues of ectodermal origin. these include skin, WHISKY hair, nails, teeth, and sweat glands.
-MOST CASES ARE X LINKED RECESSIVE
-characterized by congenital hypodontia/ oligodontia and hypoplasia of teeth, decreased sweating
-incisors tapered, microdontia of molars
VAN DER WOUDE SYNDROME
is characterized by orofacial anomalies caused by an abnormal fusion of the palate and lips at 30 to 50 days in utero.
-has been linked to a deletion in chromosome 1q32-q41
-is inherited in an autosomal dominant pattern
-approx 30% to 50% of all cases arise as a new mutation
-patients with this disorder are born with a cleft lip, cleft palate, or both.
-mild cases may present bifid uvula or nasal voice
-paramedian lip pit
is an autosomal dominant condition caused by a defect of the SH3BP2 gene.
-each child of this disease has a 50% chance of inheriting the disease.
-characteristics: painful swelling of jaw, eyes chanted "toward the heavens," chubby cheeks
-interferes with normal tooth development, distorted alveolar ridges
-begins as early as age 1 and become apparent at age 5
---can occur with RAMON SYNDROME
is an autosomal dominant condition associated with the Runx2 gene, which produces protein required for osteoblast
-characterized by bone defects involving the clavicle and skull, short patients with a large head, widening space between the eyes (HYPERTELORISM), AND WIDENED BASE OF NOSE.
--CLAVICLES ARE ABSENT or underdeveloped and barely functioning.
-highly arched palate, cross bites, increased occurrence of clefting, numerous unerupted permanent and supernumerary teeth.
is a group of syndromes that are characterized by premature closure of cranial sutures.
-examples: Crouzon syndrome and Apert's syndrome that are caused by mutations in a specific gene called fibroblast growth factor receptor gene (FGFR), the type and severity depends on the mutation of the FGFR gene.
a craniosynostosis syndrome
-autosomal dominant syndrome affecting 1 in 65k births
-cranial nerve disorders such as blindness and hearing deficit may off.
-have normal intelligence, headaches are common
-hypoplastic maxilla with insufficient development of the midface, crowding of max teeth, a narrow/high arch palate, posterior bilateral cross-bite, and mandibular prognathism
-"exophthalmos" a condition in which there is bulging of eyes due to shallow eye sockets after early fusion of surrounding bones.
-a craniosynostosis syndrome
-an autosomal dominant disorder affecting 1 in 65k to 160k births
-more rare and more severe
-patients present with a more severe head deformity
-"syndactyly" fusion of the second, third, and fourth fingers and toes.
-pseudocleft palate may occur in both syndromes
-malposed/ missing teeth
AKA mandibulofacial dysostosis
-autosomal dominant disorder that affects 1 in 25k to 50k births
-defects in first and second branchial arches related to improper migration of neural crest cells
-patients have a narrow face due to hypoplasia of the zygomatic bone
-most patients have external ear defects, including soft tissue ear tags, as well as hearing loss due to defects in the bones of the middle ear.
-condylar and coronoid hypoplasia causes mand deficiency and alterations of tooth development
-may develop cleft palate as well as lateral facial cleft
NEVOID BASAL CELL CARCINOMA SYNDROME (NBCCA)
is an autosomal dominate disorder with variable expressivity caused by mutations in the "patched" gene located on chromosome 9
-most significant feature is development of up to several hundred basal cell carcinomas over a lifetime that occur on both sun exposed and non sun exposed skin.
-resembles the melanocytic nevus or "mole"
-begins to appear around the 2nd decade of life
-is the development of multiple odontogenic keratocysts in the jaws.
-average person usually develops 6 to 12 odontogenic keratocysts during their lifetime
is the most common inherited bone disease
-represents a heterogeneous group of disorders characterized by defects in bone, dentin, ligaments, skin, and sclera that are caused by defective collagen synthesis and maturation
-mutation in either the COL1A1 or COL1A2 gene
-4 types....type II and III are fatal
-clinical defects are bone fragility, alterations of teeth, blue sclera of the eyes, hearing loss, hyperextension, and increased mobility of joints. Decreased bone density that produces deformities
dental manifestations of Osteogenesis imperfecta
-affects both dentitions
-teeth develop opalescence appearance due to defective dentin.
-DENTIN DEFECTS DUE TO OI AND __ ARE SEPARATE ENTITIES, AS THEY ARE CAUSED BY DIFFERENT MUTATIONS
-pseudo-mandibular prognathism due to HYPOPLASIA OF THE MAXILLA
is a group of skeletal defects that area caused by a deficiency in or lack of osteoclast function, which leads to a defect in bone remodeling and significant increase in bone density.
-both autosomal recessive and dominant forms originate from mutations in genes referred to as the CLCN genes, which are critical for osteoclast function
-LACK OF OSTEOCLAST ACTIVITY
-two subtypes: infantile and adult
type of osteopetrosis
-experience anemia and granulocytopenia that increases susceptibility to infections
-failed tooth eruption/dense bone (fracture easily)
-narrowing of cranial nerve foramina leads to cranial nerve compression with possible resultant complications of blindness, headaches, and hearing loss.
-may die early due to severity
subsequent __ is caused by lack of resistance to normal oral flora.
type of osteopetrosis
-later onset, less severe
-bone marrow failure does not occur and the skeleton shows no sclerosis
-most common symptom is bone pain
-may live a long life due to milder form of disease
is a developmental disorder that is characterized by replacement of normal bone by cellular fibrous connective tissue
-mutations in guanine nucleotide-binding protein , alpha stimulating activity polypeptide 1 gene occurs within the individual and are not passed from the parents, therefore the disorder is NOT hereditary.
-can be monostotic, polyostotic, or craniofacial
-ground glass appearance on radiographs
is the most common fibrous dysplasia and typically involves the jaws of males and females with equal frequency
-diagnosed in early years when a painless swelling appears on the maxilla
is the least common form and is seen as part of a syndrome
-involves multiple bones
-affects long bones more often than craniofacial bones
-characterized by pigmentation, endrocrine disorders, and puberty
-faffe-lichtenstein syndrome, cafe-au-lait pigmentation, mcCune-albright syndrome
is a rare autosomal dominant disorder, with occasional mutations reported.
-part of the FAMILIAL POLYPOSIS SYNDROME, a group of syndromes in which the colon is affected by the overgrowth of colon polyps, some of which have malignant potential.
-patients have mutations in the adenomatous polyposis coli (APC) gene.
-multiple benign osteomas that cause facial deformity, skeletal defects, intestinal polyps at high risk become malignant
-dental defects include supernumerary teeth, odontomas, and impacted teeth.
is a disorder in which males have an extra X chromosome that is retained bc of a nondisjunction event during division
-affected ppl will experience hypogonadism, gynecomastia, and reduced fertility.
-week muscles and reduced strength in childhood
-low testosterone leading to taller less muscular
-less body hair, broader hips
-more likely to develop autoimmune disorders, breast cancers, vein diseases, and osteoporosis
-20% of patients develop taurodontia
oral soft tissues are affected by __ __. these are typically subtle and may escape notice during the oral examination.
ORAL SOFT TISSUES
disorders of the __ __ _.
-white sponge nevus
-hereditary benign intraepithelial dyskeratosis
-multiple hamartoma syndrome
WHITE SPONGE NEVUS
is an autosomal dominant mucosal disorder that shows an alteration in keratinization due to mutations in keratin 4 and 13 genes
-lesions develop immediately after birth or shortly after.
-appear as thick, white, bilateral, diffuse, irregular corrugated patches on the buccal mucosa that are much larger and more widely distributed than morsicatio buccarum.
-most affected are the soft palate, labial mucosa, ventral tongue, and floor of the mouth
-lesions may affect larynx, esophageal, and genital mucosa
HEREDITARY BENIGN INTRAEPITHELIAL DYSKERATOSIS
is an autosomal dominant disorder that shares the clinical appearance of white sponge nevus
-condition affects families of african america, native american, caucasian decent originated in northeastern north carolina.
-management of candidiasis
-eyes develop lesions on the conjunctiva early in life that feature thick, white, jelly like plaques sometimes affecting the cornea.
PEUTZ JEGHER'S SYNDROME
is an autosomal dominant disorder characterized by freckle like pigmentations on the hands, perioral skin, intraoral mucosa. (may occur on nose and genitals)
-patients develop intestinal polyps that have an increased propensity for malignant transformation to ADENOCARCINOMAS
-NOT ALTERED OR RESPONSIVE TO SUN EXPOSURE
-polyps may develop anywhere along the GI tract, but are most frequently found in the jejunum and ileum
-tumors of breast, pancreas, ovaries, and genital tract may also be developed.
MULTIPLE HAMARTOMA SYNDROME
-is an autosomal dominant disorder with a high degree of penetrance, characterized by benign hamartomatous growths and a mild propensity to development malignancies.
-mutation of chromosome 10
-"trichilemmomas" are small multiple haratoma growths of the hair follicle that appears on the skin of the face, typically around the nose, ears, & mouth.
-intraoral hamartomas present as multiple scattered or clustered papules anywhere in the oral cavity, including the tongue, labial mucosa, and gingiva
is the name given to a group of 14 separate hereditary disorders in which the common outcome is defective enamel formation that cannot be attributed to other systemic disorders, such as excessive fluoride intake, malnutrition, or fever.
-etiology is related to the alteration of genes involved in the process of enamel formation and maturation.
-3 main types: hypoplastic, hypomaturation, and hypocalcified
type of amelogenesis imperfecta
-are characterized by incomplete or arrested development of the enamel matrix.
-matrix is responsible for the shape of the crown, thickness of enamel, and surface texture
-characterized by pitting, grooves, and generally rough surfaces, as well as thin enamel (may not be visible on radiographs)
type of amelogenesis imperfect
-are associated with proper matrix deposition and early mineralization, but the enamel crystalline structure fails to mature.
-enamel is malformed, soft, porous, and may appear mottled and opaque bc the poorly formed crystals fail to reflect light as normal enamel.
-radiographs show the enamel is the same radio density as dentin.
type of amelogenesis imperfecta
-shows normal tooth morphology upon eruption, but this becomes rapidly stained.
-soft and undercalcified, giving it an opaque appearance.
-chalky appearing teeth wear down rapidly and are more susceptible to caries.
-as the underlying dentin is exposed, the teeth take on a yellowish-brown stain
the dental __ gives rise to the dentin and pulp of the normal tooth
an autosomal dominant disorder characterized by abnormal tissues formed from the dental papilla.
-opalescent crowns; severe attrition
-excessive amounts of the poorly formed dentin cause abnormal root shape and bulbous crowns with cervical constriction, giving the tooth a "thistle shape"
-exces abnormal dentin formation leads to alteration or obliteration of the pulp chamber.
-LACKS TUBULAR STRUCTURE
-the blood vessels and nerves of the pulp are present and teeth are vital, but the pulp chamber is not visible radiographically.
an autosomal dominant hereditary disorder that also effects tissues derived from the dental papilla
-characterized by normal appearing crowns, malformed roots, severe hypermobility, and spontaneous dental abcesses or cysts with out obvious cause.
-root dentin is weak
-etiology is unknown, but it has been suggested that the dental pulp becomes calcified, leading to reduced growth and final obliteration of the pulpal space
is a rare inherited metabolic bone disorder that affects the development of bones as well as cementum and periodontal ligaments.
-disruption of mineralization of bones and cementum
-severe form: appears early in life, short limbs and abnormally shaped chest, failure to gain weight with respiratory problems.
-there is a deficiency of serum and bone alkaline phosphates activity that is essential for proper bone and cementum formation.
-child and adult forms
-before birth and in early infancy--severe hypophosphatasia weakens and softens the bones, causing skeletal abnormalities similar to rickets.
mildest form of hypophosphatasia
-ppl with this do not have the skeletal abnormalities seen in other forms of hypophosphatasia
-is characterized by premature exfoliation of fully rooted teeth due to the lack of cementum which serves as an anchor for the periodontal ligament.
-without cementum, the periodontal ligament fails to support the tooth in the socket.
-DISORDER OF CEMENTUM
-abnormal tooth development, premature tooth loss, enlarged pulp chambers and root canals.
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