Oral Pathology and Syndrome Pt 2 Flashcards
Achondroplasia: genetics? prevalence? physical appearance?
80% sporadic mutations, AD, syndromic
- 1/20k live births
- Short limbed dwarfism: endochondral bone formation
- enlarged head, depressed nasal bridge
- short, stubby, trident hands
- lordotic lumbar spine
- prominent buttocks
- protuberent abdomen
What are 7 major causes of dwarfism?
- Genetic
- Constitutional delay (hypopituitarism)
- Chronic disease (nutritional deficiency, mucopolycaccharidosis)
- Chromosomal/syndromic (chondroectrodermal dysplasia, turner syndrome, hallerman streiff, achondroplasia)
- Endocrine (hypothyroidism)
- Psychosocial
- Intrauterine
Hypopituitarism: how do they look? why? dental fx? What causes it?
WELL PROPORTIONED body, due to a lack of growth hormone, so they are normal but small.
- Causes: tumors (pituitary, parasellar, suprasellar, or radiation, pitutiary apoplexy) infiltrative disease, etc
- Fine, silky hair, wrinkled atrophic skin
- hypogonadism
- delayed eruption/exfoliation
- malocclusion common due to small dental arches
- Pan hypopituitarism may lead to other systemic problems
Mucopolysaccharidoses
- are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down glycosaminoglycan (which help build bone, cartilage, tendons, corneas, skin and connective tissue)
- these children also become dwarves
- Over time, these glycosaminoglycans collect in the cells, blood and connective tissues. The result is permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development.
Chrondroectodermal Dysplasia : results in? concurrent problems?
Dwarfism (ie achondroplasia + hidrotic ectodermal dysplasia classic findings of both)
- polydactaly (extradigits, ‘spade shaped hands), exctodermal dysplasia (hidrotic) brittle nails and missing teeth
- Multiple frenae
- Cardiac defects seen in 50%
Hidrotic ectodermal dysplasia is characterized by?
- Hidrotic ectodermal dysplasia is characterized by partial or total alopecia, dystrophy of the nails, hyperpigmentation of the skin (especially over the joints), and clubbing of the fingers.
Oculo-mandibulo-dyscephaly (Hallerman-Streiff syndrome): characterized by what facial characteristics? what would you see on their ceph? Dental? Body?
Dwarfism
- Dyscephaly (malformed head)
- hypotrichosis (abnormal hair patterns, loss)
- microphthalmia
- cataracts
- beaked nose
- severe micrognathia- gonial angle of the mandible is almost straight, very obstuse
- short stature
- may have supernumerary teeth/natal teeth
Name 4 syndromes characterized by a senile like appearance?
- Progeria
- Werner Syndrome
- Cockayne syndrome
- Rothmund-Thomson Syndrome
Hypothyroidism
Short stature if untreated
- Large posterior fontanel
- macroglossia
- hypothermia
- Lethargy
- hypotonia
- bradycardia
- delayed growth and skeletal maturation
Turner’s Syndrome
- chromosomes? prevalence? IQ? Other important findings? dental findings?
45X -1/8000 Females only -near normal IQ -sterile -Coarction of aorta, most common cardiac defect -webbed neck -enamel hypoplasia
Osteogenesis imperfecta: what are the types? what is the severity of each type? Which are assoc w/dentinogenesis imperfecta?
Type 1: mildest form, assoc w/blue sclera (due to collagen defects)
Type 2: Perinatally lethal, severe fragility of connective tissues; multiple in utero fractures
Type 3: Progressive deforming, severe fragility, usually assoc w/in utero fractures
Type 4: similar to type 1 but more severe,
Type 1 and 4 are assoc w/dentinogenesis imperfecta
Congenital indifference to pain: inheritance? what happens?
AR
- Frequent scarring of face w/mutilation of lips, tongue, arms, legs
- mild MR
Lesch Nyhan Syndrome: genetics? concurrent issues? what is it’s cellular basis?
X linked recessive
- MR
- Spastic CP
- choreaoathetosis
- bizarre self mutilating behavior
- absence of hyppoxanthine-guanine-phosphoribosyltransferase
Gingivitis in children: prevalence? increases w/? What about kids is different?
40-90% of children, it is the most common periodontal infection in children/adolescents
- Generally increases with age, eruption, puberty
- Rounded gingival margins of children accentuate inflammatory changes; tissues may become fibrotic
- Does not occur to the same degree as in adults w/comparable plaque
Periodontitis: prevalence? clinically see?
Prevalence of destructive disease in children:
- Age 5-11 years 1-9%
- Age 12-15 years: 1-46%
Clinical attachment loss precedes radiographic bone loss: disease threshold CEJ-ABC >2mm in primary dentition; loss of lamina dura
Aggressive Periodontitis in the permanent dentition: primary and secondary findings? Prevalence? Ethnicities?
Common characteristics of local/generalized forms:
- Primary findings: Rapid bone loss, familial aggregation, genetic predisposition
- Secondary findings: Phagocyte abnormalities, hyper-responsive macrophage phenotype, Reports of disease being self-limiting
- Prevalence in adolescents <1%; higher in african americans and hispanics
Aggressive periodontitis in the primary dentition: Radiographic? clinical? Prevalence? Cellular level what is occuring? tx?
- Bone loss around some of the primary teeth, esp molars
-Inflammation is not prominent - Children are healthy, no evidence of systemic disease
- Prevalence is <1%, higher in African Ams
- Leukocyte chemotactic defect, defect in cementum
Tx: S/RP, or EXT of primary teeth; antibiotics Amoxicillin for 7-10days
Localized aggressive periodontitis in the permanent dentition: radiographic? rate of progression vs adult? clinical? ages? Prevalence by ethnicity? What usually happens before this? Tx?
- Interproximal attachment loss on at least 2 permanent teeth and incisors w/attachment loss on no more than 2 additional teeth
- Radiographic: VERTICAl bone loss around molars; HORIZONTAL bone loss around incisors
- Rate of progression is 3-5x adult periodontitis
- Inflammation is not prominent; very little plaque/calculus
- Children are healthy w/no evidence of systemic disease
- Usually detected between 10-15 years
- Prevalence is .3% overall; 10% of Afr Americans, 5.5% latinos
- 50% preceded by bone loss in the primary dentition
- Defect: PMN chemotaxis, phagocytosis, hyper-responsive monocytes, genetic defect
- Micro: +/- actinobacillus actinomycetemcomitans
Tx: sx and non-sx debridement w/ antibiotics (doxycycline/amox/metronidazole for 7-10days)
Generalized Aggressive Periodontitis: Dx criteria? Radiographic findings? Prevalence (gender/ethnicity)? Clinical findings? Cellular findings?
Generalized attch loss including AT LEAST THREE teeth that are not 1st molars.
- Prevalence: overall .15%; higher in males and African Ams
- Usually dx under 30 yo; less common than localized form and is likely a progression of the localized form
- Clinically: marked periodontal inflammation with heavy plaque and marked calculus accumulation (differs from localized forms)
- Cellular: suppressed neutrophil chemotaxis, subgingival bacterial cultures typically non-motile, facultatively anaerobic, gram negative rods
Predisposing Genetic Traits/syndromes for periodontitis? (11)
- Cyclic neutropenia; chronic idiopathic neutropenia
- Diabetes Mellitus
- Down syndrome
- Leukocyte adhesion deficiency
- Ehlers Danlos syndrome
- Chediak-Higashi syndrome
- Papillon-lefevre
- Acatalasia (AR, lack of peroxidase primary problem is predilection for periodontal disease)
- Dentin dysplasia
- Hypophosphatasia (and hypophosphatasia vitamin D resistant rickets)
- Lesch-nyhan syndrome
Describe Chediak-higashi and papillon lefevre Syndromes?
- Chediak-Higashi syndrome: AR
- arises from a mutation of a lysosomal trafficking regulator protein which leads to a decrease in phagocytosis.
- Resulting in recurrent pyogenic infections, partial albinism and peripheral neuropathy.
- solar sensitivity and photophobia.
- frequent infections and neuropathy are common
- Infections involve mucous membranes, skin, and the respiratory tract.
- Affected children are susceptible microbial infections with Staphylococcus aureus being the most common cause. - Papillon-lefevre: AR and charac by periodontitis and palmoplantar keratoderma. - -
- The severe destruction of periodontium results in loss of most primary teeth by the age of 4 and most permanent teeth by age 14.
- Clinically can see severe inflammation
- Hyperkeratosis of palms and soles of feet appear in first few years of life.
Hypophosphatasia : etiology, phenotypes, severity, dental findings? diagnostic criteria?
Rare genetic metabolic bone disease
- Etiology: low serum alkaline phosphatase which impairs bone mineralization
- Phenotypes range from premature loss of decidious teeth to severe bone abnormalities leading to neonatal death
- The earlier the presentation of symptoms the more severe the disease
- Abnormal cementum, large pulp chambers
- Dx: low serum alkaline phosphatase,
Neoplasms which can result in periodontal disease?
- lymphoma
- leukemia
- langerhan’s cell histiocytosis (histiocytosis x)
- soft and hard tissue neoplasms
Leukocyte adhesion deficiency
AR
- Leukocyte surface glycoprotein defect resulting in poor leukocyte adherence
- Oral manifestation: generalized periodntitis in the primary and young permanent dentition
- Severe generalized periodontitis refractory to tx
- Frequent respiratory, skin, ear, and other soft tissue bacterial infections
Hereditary Hemorrhagic Telangiectasia: inheritance pattern? Clinically? potential complications?related to?
AD
- a congenital cause of erythematous gingiva
- Mucosal and cutaneous telangiectases
- May result in repeated bleeding episodes
- related to Sturge Weber syndrome
What are acquired causes of erythematous gingiva?
Trauma
- Drugs : chlorhexidene, cinnamonaldehye (cinnamon flavor)
- Infectious: candida
- Desquamative gingivitis
- Leukemia
What are some acquired causes of generalized gingival enlargement?
- Acute Myeloid leukemia (result of infiltration of leukemic cells into gingival tissues)
- Aplastic anemia
- Drugs: phenytoin, cyclosporine, calcium channel blockers
- Sodium valproate, tranexamic acid (rare)
- scurvy
What are some congenital causes of GENERALIZED gingival enlargement?
- Gingival fibromatosis
- mucopolysaccharidoses
What are some congenital causes of LOCALIZED gingival enlargement? (7 and describe them)
- Fabry’s disease (genetic fat build up in cells leads to pain in extremities, kidney problems)
- Cowden’s disease (multiple noncancerous tumour like growths aka hamartomas, on skin and mucous membranes, w/an increased risk of cancer development
- Tuberous sclerosis (benign tumors grow everywhere (brain, kidney, hear, etc), DD and seizures)
- Focal dermal hypoplasia
- Sturge-Weber syndrome
- Congenital epulis
Tuberous sclerosis
AD
- Neurocutaneous syndrome
- Seizures (90%)
- MR (60%)
- Angiofribromas (70%) involving face and sometimes oral mucosa
- Enamel defects
Three neurocutaneous syndromes with oral manifestation?
Tuberous sclerosis
Sturge Weber
Neurofirbomatosis (von recklinghousers)
Localized ACQUIRED gingival enlargement what are some causes? The top 3- how can you tell the difference between them?
- **pyogenic granuloma (inflammed look, red, will bleed)
- **Peripheral ossifying fibroma (normal mucosa coloration, can cause displacement of teeth)
- **Peripheral giant cell epulis (ulcerated w/trauma, BROWN color)
- Also: heck’s disease, lymphoma, histiocytosis, papilloma, crohn’s disease, neoplasms
Tx for top3: sx excision
Albright’s Syndrome: alternate name? Physical appearance? characterized by? looks like on radiograph?
- Polyostotic fibrous dysplasia
- Abnormal skin pigmentation (“coast of maine” cafe au lait spots)
- Endocrine dysfunction: precocious puberty
- Radiograph: ground glass appearance (due to the underlying histology, on bx fibrous stroma w/bony trabeculations shaped like ‘chinese characters’)
Cafe au lait spots
Albright’s syndrome and neurofibromatosis
Cherubism: genetics? looks like? histology? on radiograph?
AD
- bilateral fullness of the cheeks
- hypertelorism and upslanting of the eyes
- Giant cell granuloma on histology
- Xray: MULTILOCULAR radiolucencies mandible and maxilla
List :
- Unilocular, pericoronal, radiolucent lesions
- Eruption cyst
- Dentigerous cyst
- Unicsystic Ameloblastoma
- Adenomatoid odontogenic tumor
Eruption Cyst: describe, usually involves what? tx? potential problems?
- A follicular cyst involving soft tissue, blueish, painless swelling over an erupting tooth
- Most frequently involves the primary dentition and permanent molars
- Tx: none
- Usually does not interfere w/eruption
Dentigerous Cyst: describe? Prevalence? Most common sites? Pain? Radiograph?
- A cyst resulting from the separation of the follicle from the crown of the tooth
- Most common developmental cyst (20%)
- Most common sites: mandibular molar, maxillary canine
- Painless expansion, tooth fails to erupt
- Tx: enucleate +/- tooth EXT
