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Oral Pathology > Genetic Syndromes > Flashcards

Genetic Syndromes Flashcards

1
Q

Chromosomal abnormalities are detectable in a…

A

Karyotype

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2
Q

Most chromosomal abnormalities are due to…

A
  • Most are due to abnormalities in meiosis during gamete formation
  • Most are not inherited
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3
Q

Common clinical features of chromosomal abnormalities include…

A
  • Malformations
  • Developmental delay
  • Poor physical growth
  • Reproductive failure
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4
Q

Single gene defects…

A
  • Not detectable in karyotype

* Some are new mutations, but most are inherited

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5
Q

Transmission of autosomal dominant disorders…

A
  • Transmitted vertically

* At least one parent is usually affected, but some new mutations occur

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6
Q

Clinical features of autosomal dominant disorders are modified by…

A
  • Reduced penetrance (some individuals inherit the mutant gene but appear normal)
  • Variable expressivity (the gene is expressed differently among people who exhibit the trait)
  • Age of onset often delayed.
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7
Q

Transmission of autosomal recessive diseases…

A
  • Horizontal transmission: siblings may be affect, but parents and offspring usually are not
  • Usually, both parents and some of the phenotypically normal children are carriers.
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8
Q

Clinical features of autosomal recessive diseases…

A
  • Expression is more uniform.
  • Complete penetrance is more common than in AD disorders
  • New mutations are rarely clinically evident.
  • Onset is frequently early in life.
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9
Q

In many cases, clinical effects of autosomal recessive diseases due to…

A

• Deficiency of specific enzymes:

  • Consequent accumulation of substrate or intermediate products
  • or lack of the end product necessary for normal function
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10
Q

Factors suggesting that oral lesions have genetic origin…

A
  • Family history of similar lesions
  • Early age of onset
  • Multiple lesions
  • Symmetrical distribution
  • Stigmata in other organs
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11
Q

Benign conditions include…

A
  • Leukoedema
  • White sponge nevus
  • Keratosis follicularis (Darier’s disease)
  • Hereditary gingival fibromatosis
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12
Q

Demographics of leukoedema

A
  • It is noted more frequently in black people than in whites.
  • More often in men than in women.
  • Occurs in most adults and some authorities regard it as a “variation of normal”
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13
Q

Clinical features of leukoedema

A
  • This is a gray-white, bilaterally symmetrical, appearance of the buccal mucosa.
  • DOES NOT rub off, but is reduced by stretching. ***
  • Asymptomatic, and increases with age.
  • Ranges from a filmy, milky opalescence to a gray-white, coarsely wrinkled or corrugated surface.
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14
Q

Sites where leukoedema may occur…

A
  • Buccal mucosa
  • May extend onto the labial mucosa
  • Also reported in the larynx and vagina
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15
Q

Diagnosis of leukoedema

A

• Presumptive diagnosis is often made on the basis of clinical features

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16
Q

Histology of leukoedema

A

Biopsy revealed:
• Thickened stratified squamous epithelium with irregular, elongated rete ridges
• Cells of the spinosum are enlarged and exhibit marked intracellular edema and pyknotic nuclei ***
• Surface is usually parakeratinized.

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17
Q

White sponge nevus is also known as…

A
  • Familial white folded dysplasia

* Cannon’s disease

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18
Q

White sponge nevus is caused by mutations in…

A
  • Keratin 4 genes
  • Keratin 13 genes

Note: one or both may have mutation

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19
Q

White sponge nevus is inherited as an…

A
  • Autosomal dominant trait

* High degree of penetrance and variable expressivity

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20
Q

Clinical features of white sponge nevus…

A
  • Bilateral and symmetrical
  • Asymptomatic
  • White (or gray-white), thickened, velvety or corrugated (sometimes deeply folded) plaques
  • Lesions are spongy in consistency
  • Usually appear early in life
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21
Q

Sites where white sponge nevus may occur…

A
  • May cover a small, or large area of the buccal mucosa
  • May affect other parts of the mouth
  • May also affect the nasal cavity, larynx, esophagus, and ano-genital region
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22
Q

White sponge nevus histology

A
  • Marked hyperparakeratosis, acanthosis, and spinous layer intracellular edema and pyknotic nuclei (which are also seen in leukoedema).
  • Parakeratotic plugs may extend from the surface into the spinosum.
  • Perinuclear, eosinophilic condensation (due to tangled masses of keratin tonofilaments) is a distinctive feature which is seen in some cases.
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23
Q

Bilateral buccal mucosa white plaques include…

A 
• Leukoedema
• Morsicatio buccarum
• Lichen planus
• Lichenoid mucositis
   - e.g. cinnamon
• White sponge nevus
• L E
• Candidiasis
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24
Q

What is keratosis follicularis (Darier’s disease)?

A

• Rare, mainly cutaneous, disease
• Desmosome-tonofilament defects are linked to acantholysis
AD with high penetrance and variable expressivity
• New mutations also occur

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25
Q

Etiology of Keratosis Follicularis (Darier’s disease)

A
  • Mutations in gene ATP2A2 on 12q23-24.1
  • Encodes ER Ca2+-ATP isoform 2 protein (SERCA2), a calcium pump. ***
  • Transports Ca2+ from cytosol back to ER lumen.
  • Mutations affect synthesis, folding, or trafficking of desmosome components
  • Causes defective desmosomes ***
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26
Q

Keratosis Follicularis (Darier’s disease) clinical features

A
  • Skin papules are red and often pruritic
  • Become brown, then purple, and crust over
  • Lesions may be so extensive that disfiguring, foul smelling masses are removed
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27
Q

Keratosis follicularis (Darier’s disease) and oral lesions

A
  • Oral lesions are reported in up to 50% of cases
  • Asymptomatic
  • Small, whitish, rough papules
  • Most often affect keratinized areas
  • Confluent papules create a cobblestone appearance
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28
Q

Keratosis follicularis (Darier’s disease) histology

A

• Central crater contains keratin plug
• Epithelium beneath crater exhibits
- intraepithelial clefting (a form of acantholysis due to desmosome defects)
- Elongated rete ridges
- Dyskeratosis ( represented by round bodies and grains)
• Acantholysis due to desmosome defects

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29
Q

Prognosis for keratosis follicularis (Darier’s disease)

A

• Chronic, slowly progressive problem
• Responds to treatment with vitamin A derivatives
- side effects may limit this therapy

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30
Q

Histology of keratosis follicularis (Darier’s disease)

A

• Intraepithelial clefts
• Acantholytic dyskeratosis
- Corps ronds
• Large, keratinized cells with intensely eosinophilic cytoplasm surrounding a round, basophilic nucleus
- Grains
• Small, elongated cells with pyknotic nuclei

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31
Q

Generalized gingival enlargement can occur due to…

A
  • Nonspecific hyperplasia
  • Primary HSV
  • Granulomatous conditions
  • Leukema
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32
Q

Nonspecific inflammatory hyperplasia that can cause generalized gingival enlargement include…

A
  • Dental plaque
  • Hormone inbalance
  • Scurvy
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33
Q

Nonspecific fibrous hyperplasia that can cause generalized gingival enlargement include…

A 
• Heredity:
  1) metabolic diseases
  2) Gingival fibromatosis
       - Syndromal
       - Non-syndromal (isolated finding)
• Drug-induced
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34
Q

Granulomatous conditions that cause generalized gingival enlargement include…

A
  • MRS
  • Wegener
  • Sarcoidosis
  • Crohn’s disease
  • Foreign body reaction
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35
Q

Inherited gingival enlargement due to inborn errors of metabolism include…

A
  • Mucopolysaccharidoses
  • Mucolipidoses
  • Juvenile hyaline fibromatosis
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36
Q

Inherited gingival fibromatosis occurrence

A

• Non-syndromal (isolated finding - without any other stigmata)
- more common than cases that are part of inherited syndromes
- 80% are familial (AD > AR)
- 20% are idiopathic (not inherited - condition occurs without a positive family history)
• Syndromal
- Zimmerman-Laband
- Cowden (multiple hamartoma and neoplasia)
- Cross and prune belly
• Associated with other abnormalities
- Hypertichosis
- Epilepsy
- Mental retardation
- Endocrine disturbances

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37
Q

Clinical features of hereditary gingival fibromatosis

A
  • Enlargement often begins at time of eruption of primary or secondary teeth
  • May involved attached gingivae as far as mucogingival line
  • Teeth buried by dense, firm tissue
  • Gingival overgrowth may be smooth or nodular, pink or pale
  • Sometimes limited to regions or quadrants, rather than the gingivae of the entire dentition
  • Tends to recur after gingivectomy
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38
Q

Histology of hereditary gingival fibromatosis

A
  • Dense collagenous fibrous connective tissue
  • Inflammation proportional to local irritating factors
  • Surface epithelium is hyperplastic, often with long, narrow rete ridges.
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39
Q

Oral lesions are usually benign markers for…

A

Potentially fatal genetic syndromes affecting oral soft tissues

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40
Q

Most common chromosomal disorder

A

Down syndrome

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41
Q

Down syndrome

A
  • Most common chromosomal disorder
  • > 90% of cases have trisomy 21 (47 chromosomes)
  • Parents have normal karyotype
  • Aberattion occurs during gametogenesis
  • ~4% of cases are familial
42
Q

Familial down syndrome

A

• Affected child has 46 chromosomes (95% Downs have 47)
• Extra long arm of 21 fused to long arm of 22 or 14
- One chromosome very long
• Carrier gamete has normal chromosome 21 and another chromosome with an extra long arm of 21
• Fertilization results in cell with 3 long arms of 21

43
Q

Clinical features of down syndrome

A
  • Mental retardation
  • Susceptibility to leukemia & infections
  • Congenital heart disease is most common cause of early death.
  • Short stature
  • Midface skeletal deficiency
  • Small sinuses
  • Ocular hypertelorism
  • Flattened nasal bridge
  • Relative mandibular prognathism
44
Q

Oral features of down syndrome

A
  • Macroglossia
  • Fissured tongue
  • Protruding tongue and open mouth
  • Periodontal disease
  • Developmental tooth abnormalities (e.g. retarded eruption, hypodontia, taurodontia)
45
Q

Cowden syndrome (multiple hamartoma and neoplasia syndrome) is transmitted as…

A
  • Autosomal dominant trait with high penetrance and varied expressivity
  • Mutation of the PTEN (phosphatase and tensin homolog) gene on chromosome 10q
  • It’s a single gene defect
46
Q

Clinical presentation of skin lesions in Cowden syndrome (Multiple hamartoma and neoplasia)

A

• Multiple, small, warty papules (trichilemmomas and non-specific papules)
- Creates toad-skin facial appearance
• Periorificial lesions
• Warty growths of hands (acral keratosis)
• Other benign tumors (lipomas, hemangiomas, neuromas)

47
Q

Internal tumors that may occur in Cowden syndrome (multiple hamartoma and neoplasia)

A
  • Thyroid goiter, adenomas, adenocarcinoma
  • Breast fibrocystic disease and cancer
  • GI tract multiple benign and malignant tumors

Note: there is an increased risk for malignancies of breast, female genito-urinary tract, and thyroid gland

48
Q

Oral manifestations in Cowden syndrome

A
  • Mucosa coarsely granular, warty, or cobblestone in appearance due to multiple papules which are benign, non-specific, fibro-epithelial proliferations.
  • The gingivae may be markedly hyperplastic and the dorsum of the tongue may be pebbly.
49
Q

Diagnosis of Cowden syndrome (Multiple hamartoma and neoplasia)

A

Diagnosis can be made on the basis of two of three signs:
• Multiple facial trichilemmomas
• Multiple oral papules
• Acral keratoses

50
Q

Transmission of tuberous sclerosis is…

A

• Autosomal dominant, but two thirds of cases are new mutations.
• Mutations occur on one of two genes:
- TSCI on chromosome 9 or
- TSC2 on chromosome 16

51
Q

Which genes have mutations in tuberous sclerosis? Consequences?

A

• Mutations on one of two genes:
- TSCI on chromosome 9
- TSC2 on chromosome 16
• Disruption of these suppressor genes leads to multiple hamartomatous growths.

52
Q

Clinical features of tuberous sclerosis

A 
• Main features:
   - Mental retardation
   - Seizure disorders
• Accompanied by clinical lesions:
   - Angiofibromas
   - Shagreen patches
   - Ash-leaf (hypopigmented) spots
   - Ungual fibroma
53
Q

Describe appearance of angiofibromas as observed in tuberous sclerosis

A

Multiple, smooth-surfaced papules on the face (especially nasolabial fold area) and under nails

54
Q

Describe appearance of Shagreen patches as observed in tuberous sclerosis

A

Resemble sharkskin-derived shagreen cloth.

55
Q

Oral manifestations of tuberous sclerosis…

A

• Multiple fibrous papules
• Jaw radiolucencies
- represent dense fibrous connective tissue proliferations
• Enamel pitting

56
Q

Multiple endocrine neoplasia type 2B or III (Multiple mucosal neuroma syndrome) transmission is…

A

• Autosomal dominant, although approximately 50% of cases are spontaneous mutations

57
Q

Mutation in multiple mucosal neuroma syndrome occurs on…

A
  • Mutations of the RET (Rearranged during Transfection) protooncogene
  • Present on chromosome 10 at position 11.2
  • Genetic analysis: heterozygous for a missense mutation (M918T) in exon 16 of RET protooncogene
58
Q

Clinical features of multiple mucosal neuroma syndrome

A

• Marfanoid appearance:
- Most affected individuals have long, thin limbs, and narrow face
• +/- Cafe au lait cutan macules
• Multiple, painless papules or nodules
- covered by mucosa of normal color
• On tongue, lips, other oral sites and other mucosae

59
Q

Histology of mucosal neuromas

A
  • Hyperplastic peripheral nerve fiber bundles
  • Thick perineurium
  • Normal or loose C.T. stroma
60
Q

Medullary thyroid carcinoma…

A

• Occur in > 90% of cases of multiple mucosal neuroma syndrome
- Most are diagnosed between the ages of 18 and 25
- Unless thyroidectomy is performed,, average age of death is 21
• RET mutation on genetic testing warrants thyroidectomy
- Elevated serum and urinary calcitonin

61
Q

Pheochromocytoma

A
  • In at least 50 cases of multiple mucosal neuroma syndrome
  • 10% occur in familial syndromes
  • Increased urinary excretion of catecholamines and their metabolites (vanillymandelic acid and metanephrines)
  • Catecholamines cause sweating, diarrhea, flushing, tremors, abrupt, and precipitous hypertension and heart palpitation.
  • Sudden cardiac death may occur.
  • Isolated benign tumors are excised
  • Multifocal lesions require long-term treatment for HTN
62
Q

What is hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease)?

A

• Multiple mucocutaneous telangiectasias (dilated small vessels) involving the respiratory, GI, and urinary tracts

63
Q

Transmission of hereditary telangiectasia (Osler-Rendu-Weber disease) is…

A

• Autosomal dominant trait
• Mutation of one of two genes:
- In HHT1, it is ENG (endoglin) on chromosome 9q34
- Mutation of ALK1 (activin receptor-like kinase-1) on chromosome 12q13 produces HHT2

64
Q

Where do telangiectasias for Osler-Rendo-Weber occur? Appearance?

A
  • Face, lips, tongue, and gingivae
  • Circumoral lesions are characteristic
  • May be pinpoint, macular, papular, nodular, or spider-like
  • Blanch on pressure
  • Internal organs, including the brain, liver and spleen, may be affected by telangiectasias and other vascular anomalies with consequences which are occasionally fatal.
65
Q

Hemorrhage (including epistaxis)) in hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease) may cause…

A

Anemia

66
Q

Lesions in Hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease) are become evident when?

A

Lesions are evident early in life and worsen with age.

67
Q

Diagnosis of Hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease) involves…

A

Diagnosis is made in patients with three of four criteria:
• Recurrent spontaneous epistaxis
• Telangiectasias of mucosa and skin
• A-V malformation in lungs, liver or CNS
• Positive family history of HHT

68
Q

Transmission of neurofibromatosis type 1 (Von Rechlinghausen’s disease) is…

A

• This relatively common disease is transmitted in an autosomal dominant manner, but 50% of cases are new mutations

69
Q

Gene and chromosome implicated in neurofibromatosis type 1 (Von Rechlinghausen’s disease)

A
  • Defects in the NF1 gene on chromosome region 17q11.2

* Disables a tumor suppressor, neurofibromin

70
Q

Stigmata of neurofibromatosis type 1 (Von Recklinghausen’s disease) includes…

A

• Cutaneous cafe au lait macules
• Multiple neurofibromas
• Lisch nodules
- Hamartomas presenting as pigmented iris spots
• Freckling in the axillary or inguinal regions
• Optic glioma
• Distinctive osseous lesion (e.g. sphenoid dysplasia)
• First degree relative with NF1

Diagnosis; two or more criteria are required for diagnosis

71
Q

Describe the appearance of cafe au lait macules in Neurofibromatosis type 1 (Von Recklinghausen’s disease)

A
  • Smooth outline

* Six or more macules, each 1.5 cm or more in diameter, is an important diagnostic criterion

72
Q

Describe the appearance of neurofibromas in neurofibromatosis type 1 (Von Recklinghausen’s disease)

A
  • Cutaneous and subcutaneous neurofibromatosis affect the skin and mucosae and may involve any internal sites.
  • Mucocutaneous neurofibromas may be discrete nodules or huge, pendulous cutaneous masses (“elephantiasis neuromatosa”)
  • Plexiform neurofibromas are pathognomonic
73
Q

________ ________ are pathognomonic for neurofibromatosis type 1 (Von Recklinghausen’s disease)

A

Plexiform neurofibromas

74
Q

Describe plexiform neurofibromas in neurofibromatosis type 1 (Von Recklinghausen’s disease)

A
  • Pathognomonic
  • Expansile, intraneural lesions
  • Tortuous and thickened nerves contain proliferating Schwann cells, neurites, and fibroblasts in a myxoid stroma
  • Sarcomatous change occurs in about 5% of patients with plexiform neurofibromas
  • 5 year survival rate is only 15%
75
Q

Consequences of tumors in neurofibromatosis type 1 (Von Recklinghausen’s disease)

A
  • CNS tumors may cause epilepsy and mental retardation

* Central and peripheral bone tumors may cause skeletal, including mandibular, abnormalities

76
Q

Oral clinical features of neurofibromatosis type 1 (Von Recklinghausen’s disease)

A
  • Lingual fungiform papillae are often enlarged
  • Oral neurofibromas may be discrete or cause an enlarged, misshapen tongue
  • Generalized gingival enlargement may occur
77
Q

Transmission of Peutz-Jeghers syndrome is via…

A

• Autosomal dominant basis, but 35% of cases are new mutations

78
Q

Gene and chromosome implicated in neurofibromatosis type 1 (Von Recklinghausen’s disease)

A
  • Most cases are due to mutation of the STK11 gene (also known as LKB1) on chromosome 19q13.3
  • It encodes for a serine/threonine kinase
79
Q

Clinical presentation of Peutz-Jeghers syndrome

A
  • Pigmented macules on the digits, around the body orifices and on the oral mucosa due to prolonged melanin retention in melanocytes which have elongated dendrites.
  • Pigmented macules are associated with multiple gastrointestinal hamartomatous polyps (which may cause obstruction).
80
Q

In Peutz-Jeghers syndrome there is an increased risk for cancers such as…

A
  • Colon
  • Pancreas
  • Male and female genital tracts
  • Breast
  • Ovary
81
Q

Autoimmune polyendocrine candidiasis syndrome (candidiasis endocrinopathy syndrome) is transmitted by…

A

• Autosomal recessive basis

82
Q

Gene and chromosome implicated in Autoimmune Polyendocrine Candidiasis syndrome (Candidiasis endocrinopathy syndrome)

A
  • Mutations in the autoimmune regulator (AIRE) gene on chromosome region 21q22.3
  • Results in autoantibodies
83
Q

Autoimmune endocrinopathies observed in autoimmune polyendocrine candidiasis syndrome (Candidiasis endocrinopathy syndrome) include…

A
  • Thyroiditis
  • Hypoparathyroidism
  • Addison’s disease
  • Diabetes mellitis
  • Ovarian pathology
84
Q

Clinical features/stigmata of Autoimmune polyendocrine candidiasis syndrome (Candidiasis endocrinopathy syndrome) include…

A 
• Chronic mucocutaneous candidiasis of the mucosae, skin, and nails
• Other stigmata include:
   - Enamel hypoplasia
   - Iron deficiency anemia
   - Achlorhydria
   - Malabsorption
   - Eye lesions
85
Q

In Autoimmune polyendocrine candidiasis syndrome (Candidiasis endocrinopathy syndrome), there is some evidence of increased prevalence of these two types of cancer…

A

Oral and pharyngeal carcinoma

86
Q

What is epidermolysis bullosa?

A
  • A group of INHERITED diseases characterized by mucocutaneous vesicles and bullae.
  • Defective cellular cohesion causes clefting at various levels, within, or below the surface epithelium.
87
Q

Broad categories of epidermolysis bullosa are…

A
  • Simplex
  • Junctional
  • Dystrophic
  • Hemidesmosomal

Note: there is an acquired, purely autoimmune form of epidermolysis bullosa

88
Q

The most serious forms of epidermolysis bullosa are inherited on a what basis?

A

Autosomal recessive basis

89
Q

Where does clefting occur in the junctional and dystrophic types of epidermolysis bullosa?

A
  • Junctional type –> clefting is at the level of the lamina lucida
  • Dystrophic types –> clefting is below the lamina densa
90
Q

In the junctional type of epidermolysis bullosa, there are mutations in…

A

The genetic codes for the alpha-3, beta-3, and y-2 subunits of laminin

91
Q

What is significantly increased in the junctional type of epidermolysis bullosa?

A

• Dental abnormalities

  • Anodontia
  • Enamel hypoplasia
  • Pitting
92
Q

Which form of dystrophic type Epidermolysis bullosa may be fatal?

A
  • The generalized recessive dystrophic is one of the forms which may be fatal.
  • Vesicles and bullae result from even minor trauma
93
Q

Genes implicated in the dystrophic type of Epidermolysis bullosa…

A

Most of the dystrophic types are caused by mutations in genes responsible for the production of type VII collagen

94
Q

Complications of dystrophic types of epidermolysis bullosa include…

A
  • Secondary infections
  • Loss of manual function due to scarring
  • Squamous cell carcinoma arising in scarred skin
95
Q

Oral problems in the dystrophic types of Epidermolysis bullosa include…

A

• In addition to extensive bullae, oral problems include:

  • Microstomia
  • Ankyloglossia due to scarring
  • Soft, cariogenic diet results in carious destruction of teeth
96
Q

Most lysosomal storage diseases are transmitted as…

A

• Autosomal recessive disorders

97
Q

Lysosomal storage diseases include disturbances in…

A
  • Lipids
  • Glycosaminoglycans (mucopolysaccharides)
  • Glycogen, etc.
98
Q

Deficiency of lysosomal enzyme causes what?

A
  • Accumulation of substrate in secondary lysosomes and extracellularly
  • Somatic cells are affected and neurons in some conditions
  • Extracellular accumulation occurs around tooth germs
99
Q

Hurler syndrome results from what?

A

• A deficiency of alpha-L-iduronidase

100
Q

What accumulates in Hurler Syndrome (MPS H), where does it accumulate, and what are the consequences?

A
  • Accumulation of dermatan sulfate and heparan sulfate in fibroblasts, endothelial cells, and vascular smooth muscles.
  • Causes death from cardiac disease by the age of ten
  • Accumulation in neurons severely affects mental development
101
Q

Clinical features of Hurler Syndrome (MPS H) in children…

A
  • Children also exhibit corneal clouding, coarse facial features, short neck, large head, macroglossia, thick lips, and an open mouth.
  • There are lucencies around developing teeth, slow eruption, and gingival hyperplasia.

Oral Pathology (9 decks)

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