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Oral Path - Exam 4

Dermatologic Diseases

TermDefinition
Group of inherited conditions in which two or more ectodermally derived structures fail to properly develop Ectodermal dysplasia
Subtype of ectodermal dysplasia inherited as an X-linked trait and has a male predominance; patients typically display heat intolerance because of reduced number of sweat glands Hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia typically exhibits what genetic pattern __________ and predominates in which sex ____________- X-linked; male
With __________ deramtologic disease there is often an experience of hypodontia or oligodontia Ectodermal dysplasia
Females may show partial expression of ectodermal dyplasia, with only one abnormal X chromosome, whcih is explained via the ____________ Lyon hypothesis
Rare autosomal dominant trait resulting in defect in genes that express keratin 4 and keratin 13, thus altering normal keratinization of oral mucosa; affect the buccal mucosa and consist of diffuse, white thickened plaques White Sponge Nevus
With white sponge nevus there is a defect in the genes that express Keratin 4 and keratin 13
Rare genodermatosis that affects persons of a tri-racial ancestry who originally lived in North Carolina; inherited autosomal dominant; develops oral and occular lesions Hereditary Benign Intraepithelial Dyskeratosis
This dermatologic disease has oral lesions that appear similar to those seen in white sponge nevus and ocular lesions that are thick, opaque plaques of the bulbar conjuctiva Hereditary Benign Intraepithelial Dyskeratosis
This dermatologic pathology demonstrates the "cell within a cell" phenomenon HBID
Rare autosomal dominant genodermatosis that primary affect the nails, manifestated as an accumulation of keratin material in the nail beds Pachyonychia Congenita
Some patients with pachyonychia congenita exhibit this oral manifestation - _____________, and others have __________ and ___________ of the palms and soles. White plaques of the oral mucosa; hyperkeratosis and hyperhidrosis
Rare genodermatosis with X-linked recessive inheritance, has male predilection and is associated with a defect in the DKC1 gene responsible for maintenance of telomerase Dyskeratosis Congenita
Condition manifested as a reticular hyperpigmentation of the skin of the face, neck and chest along with dysplastic nail changes Dyskeratosis Congenita
When a dyskeratosis congenita is a ___________ lesion, it is considered premalignant with 1/3 of them developing into squamous cell carcinoma Leukoplakic
70% of patients with dyskeratosis congenita develop thrombocytopenia which eventually develops into _________ Aplastic anemia
Rare genodermatosis in which affected individuals develop skin cancers at an early age; autosomal recessive inheritance and leads to thei nability to repair DNA damage to epithelial cells exposed to UV light Xeroderma pigmentosum
In patients who have xeroderma pigmentosum, ___________ form, which progress to squamous cell carcinoma actinic keratoses
Oral manifestations of xeroderma pigmentosum include _____________ of the lower lip and tip of the tongue. Squamous cell carcinoma
Extremely rare disorder in which the mucosal cells do not develop in a normal fashion with clinical features of sparse, coarse hair with non-scarring alopecia; also severe photosensitivity and early cataract formation with vision impairment is a problem Hereditary Mucoepithelial Dysplasia
The main oral manifestation of the hereditary mucoepithelial dysplasia is an _____________. Asymptomatic, demarcated, fiery-red erythema of the hard palate
Rare disorder affecting the skin, eyes, teeth and CNS; X-link dominant with marked female predominance because the disease is lethal in most males Incontinentia Pigmenti
Of the males who have incontinentia pigment, those who survive will have __________ Klinefelter sydnrome
The four stages of development of incontinentia pigmenti Vesicular, Verrucous, Hyperpigmentation, and atrophy with depigmentation
Uncommon genodermatosis affecting skin and oral mucosa; inherited as anutosomal dominant that clinically presents as a lack of cohesion of surface epithelial cells due to abnormal organization of the desmosomes Darier's disease
Another name for darier's disease Keratosis follicularis
Individuals affected with darier's disease typically develop _______________ on the skin of the trunk and scalp during the first 2 decades of life Pruritic (itchy) papules
Oral lesions of darier's disease consist of multiple, asymptomatic, normal-colored or white papules that may be so numerous that they cause a _____________ appearance to the mucosa Cobblestone
Isolated lesion that appears as an umbilicated papules, usually less than 0.5 cm on the skin of the head and neck of an older adult; microscopicaly identical to Darier's disease Warty dyskeratoma
Autosomal dominant disorder characterized by freckle-like lesions of the hand, perioral skin and oral mucosa along with intestinal polyposis Peutz-Jeghers Syndrome
The skin lesions of Peutz-Jeghers resemble _______ and most often involve _________ skin. ( _______, _______ and _______ region) Freckles; periorificial skin; mouth, nose and anogenital
The oral lesions with this dermatologic disease consist of small (1-4 mm) brown to blue-gray flat lesions of the vermilion and mucosa of the lips, buccal mucosa and tongue Peutz-Jeghers Syndrome
In addition to freckles and oral lesions, __________ are seen in Peutz-Jeghers syndrome; these patients often develop _________ of the intestines leading to obstruction. Intestinal polyps; intussusception (telescoping)
____________ can result in a significant number of those with Peutz-Jegher syndrome but apparently does not form in the polyps themselves. Gastrointestinal adenocarcinoma
Peutz-Jeghers patients also develop cancers/tumors of the ________, __________, _______, and _________. Pancreas, breast, ovary, and genital tract
Uncommon autosomal dominant disorder consiting of vascular hamartomas of skin and mucosa that results from alterations of the endoglin (ENG) gene on chormosome 9 (HHT1) or the ALK1 gene on chromosome 12 (HHT2) Hereditary Hemorrhagic telangiectasia
Another name for hereditary hemorrhagic telangiectasia Osler-Weber Rendu Syndrome
Initial diagnosis of this dermatologic pathoses occurs because of frequent episodes of spontaneous nosebleeds (epistaxis) Hereditary Hemorrhagic telangiectasia
Small collections of superficial, thin-walled vascular channel located just beneath the mucosal surface of nasal and oral mucosa found in association with hereditary hemorrhagic telangiectasia Telangiectasias
The brain lesions appear to predispose these patients to the development of brain abscesses, some of which have been associated with invasive dental procedures Hereditary Hemorrhagic telangiectasias
Group of inherited CT disorders which are all related to the production of abnormal collagen Ehlers-Danlos Syndromes
Ehlers-Danlos syndromes develop due to the production of ___________ Abnormal collagen
Clinical manifestations of this consist of hypermobility of the joints,easy bruising and marked skin elasticity Ehlers-Danlos Syndromes
The __________ of Ehlers-Danlos syndromes is seen in about 80% of affected individuals, and is manifested by skin hyper elasticity, easy bruising, and scarring of skin resembling crumpled cigarette paper Classical type
The __________ of Ehlers-Danlos syndromes exhibits patients who have shortened life expectancy due to the formation and subsequent rupture of aortic aneurysms Vascular type
Various oral findings associated with Ehles-Danlos syndromes include PD disease, mucosal burning, friable mucosa, and recurrent subluxation of the TMJ
50% of those with Ehlers-Danlos can touch the tip of their tongue to their nose and this is called __________ Gorlin sign
Uncommon syndrome characterized by mental retardation ,seizure disorders, and angiofibromas of the skin; is autosomal dominant Tuberous Sclerosis
Characteristic findings in tuberous sclerosis 1. Mental retardation 2. Seizure disorders, 3. Angiofibromas of the skin
Clinical feature of tuberous sclerosis which is multiple smooth-surfaced papules most often found on the nose or nasolabial fold Facial angiofibromas
Clinical feature of tuberous sclerosis which is areas of rough, leathery, orange-peel like skin typically seen on the lower back or nape of the neck Shagreen patch
Clinical feature of tuberous sclerosis which is ovoid areas of hypopigmented skin Ash-leaf spots
Clinical features of Tuberous sclerosis Facial angiofibromas, ungual/periungual fibromas, shagreen patches, ash-leaf spots, CNS findings (seizures, mental retardation), cardiac rhabdomyomas, and angiomyolipoma
CNS findings associated with tuberous sclerosis Seizures, mental retardation
Feature of tuberous scleorsis in which the patient develops a hamartomatous growth in the kidney Angiomyolipoma
Oral lesions associated with tuberous sclerosis include Enamel pitting on facial of anteriors, multiple fibrous papules on anterior gingiva, gingival hyperplasia, fibrous proliferations within jawbones
Rare condition in which patients develop multiple hamartomatous growths called trichilemmomas primarily located on the skin of the head and neck Cowden syndrome (multiple hamartoma and neoplasia syndrome)
Another name for Cowden syndrome Multiple hamartoma and neoplasia syndrome
Hamartomatous growths associated with Cowden syndrome that appear as small, flesh-colored umbilicated papules on the face, especially around the eyes, ears, mouth and nose Trichilemmomas
High percentage of patients with Cowden syndrome will develop ______________ Internal malignancies
Women with cowden syndrome very commonly, 25-50% of the time,, develop _________ Breast carcinoma
Intraoral manifestations of Cowden syndrome occur in 80% of individuals Small papules on the gingiva, dorsal tongue, buccal mucosa
Heterogenous group of inherited disorders that manifest principally mucocutaneous blistering Epidermolysis Bullosa
4 broad categories based of cellular adhesion of epidermolysis bullosa 1. Simplex 2. Junctional 3. Dystrophic 4. Hemidesmosomal
Oral lesions associated with epidermolysis bullosa are most often associated with this category/type Dystrophic form
Dental abnormalities seen with epidermolysis bullosa Anodontia, enamel pitting and hypoplasia, neonatal teeth and severe dental caries
Autosomal dominant and recessive dystrophic types of epidermolysis bullosa develop early in life and are characterized by _______________________ such as knuckles, knees and feet. Bullae formation at sites of chronic trauma
With recessive dystrophic epidermolysis bullosa, you get fusion of the fingers after repeated trauma and results in the _________ deformity. "mitten-like"
The ________ type of EB exhibits intraepithelial vesicle formation, whereas the _______, ________, and ______ types exhibit subepithelial vesicles. Simplex; junctional, dystrophic, hemidesmosomal
Disease in which affected individuals produce antibodies (autoantibodies) directed against various proteins (auto antigens) involved in either holding epithelial cells together or in attaching the epithelium to the underlying CT. Immune-mediated mucocutaneous diseases
another name for immune-mediated mucocutaneous disease Immunobullous diseases
two techniques used to faciliatet the identification of immune0mediated mucocutaneous diseases Direct immunofluorescence; indirect immunofluorescence
Direct immunofluorescence detects _______ antibodies and is performed on patient's _________ tissue-bound; tissue
Indirect immunofluorescence detects _________ antibodies and is performed on patient's ____________ Circulating; serum
Rare disease that may lead to death and results in blisters of the skin and oral mucosa; caused by abnormal production of autoantibodies directed against epidermal cell surface glycoproteins, desmoglein 3 (Dsg3) and desmoglein 1 (Dsg1) Pemphigus vulgaris
Pemphigus vulgaris is caused by abnormal production of autoantibodies directed against epidermal cell surface glycoproteins __________ and _____________ Desmoglein 3 (Dsg3); Desmoglein 1 (Dsg1)
In pemphigus vulgaris the antigen-antibody reaction interferes with adherence of the epithelial cells to each other creating ___________ formation. Intraepithelial blister
50% of the patients will have oral mucosal lesions prior to the onset of skin lesions, and eventually almost all patients will have oral lesions who have this disease Pemphigus vulgaris
Clinical feature of pemphigus that is the creation of a new vesicle or bulla by applying firm lateral pressure on normal-appearing skin Positive Nikolsky sign
Characteristic microscopic picture of pemphigus vulgaris is the ____________ separation occurring just above the basal cell layer. Intraepithelial (suprabasilar)
Within the vesicles of pemphigus vulgaris there are free-floating rounded spinous cells referred to as __________ Tzanck cells
Process of detachment of spinous cells from each other that is seen with pemphigus vulgarism is called ___________ Acantholysis
Treatment of pemphigus vulgaris is _____________ in conjuction with immunosuppressive drugs systemic corticosteroids (usually prednisone)
An oral and cutaneous pemphigus-like reaction that can be seen in patients taking certain phenol- or thiol-containing medications such as penicillamine, ACE-inhibitors, and NSAIDS Drug-induced pemphigus
Very severe form of pemphigus seen in patients with a malignancy such as a lymphoma or chronic lymphocytic leukemia; caused by antibodies produced in response to tumor cells that cross-react with host desmosomes and basement membrane components Paraneoplastic pemphigus
Group of chronic blistering mucocutaneous diseases in which autoantibodies directed against various components of the basement membrane zone are produced Mucous Membrane Pemphigoid
Gingival involvement with mucous membrane pemphigoid is called __________ Desquamative gingivitis (DG)
The most serious complication of mucous membrane pemphigoid is ___________ Ocular involvement
Conjunctival scarring associated with mucous membrane pemphigoid can result in Symblepharon, ankyloblpeharon, entropion (turning in of eyelids), trichiasis (eyelashes growing toward globe)
Turning of eyelids in associated with mucous membrane pemphigoid Entropion
Eyelashes growing toward globe associated with mucous membrane pemphigoid Trichiasis
Mucous membrane pemphigoid shows a clean separation of the epithelium from the underlying connective tissue at the level of the basement membrane and is thus termed Sub epithelial
A type of mucous membrane pemphigoid associated with more widespread involvement as well as an increased incidence of solid malignancy Anti-laminin 332 MMP
Other rare blistering diseases that can mimic pemphigoid on routine light microscopy (LEA) Linear IgA disease, epidermolysis bullosa acquisita (EBA), and angina bullosa hemorrhagica
Most common autoimmune blistering condition Bullous pemphigoid
Disease characterized y production of autoantibodies directed against BP230, protein found in hemidesmosomes and against BP180, transmembrane protein found in hemidesmosome and in upper portion of the basement membrane Bullous pemphigoid
In contrast to mucous membrane pemphigoid, bullous pemphigoid primarily affects the _______- Skin
Acute vesiculobullous process of skin and mucous membranes with many patients who present with this having a history of herpes simplex or mycoplasma pneumoniae Erythema multiforme
Two viral infections often seen in those who present with erythema multiforme 1. Herpes simplex 2. Mcyoplasma pneuomoniae
Erythema multiforme major is termed Stevens-Johnson syndrome
Onset of erythema multiforme is _________ with prodromal symptoms of fever, malaise, headache, cough, and sore throat preceding the development of clinical lesions usually sudden
Skin lesions associated with erythema multiform that present as series of concentric rings with varying degrees of erythema Target or Bull's-eye lesions
More severe form of erythema multiforme characterized by ocular and/or genital lesions in addition to oral and skin involvement, usually triggered by a drug rather than infection Stevens-Johnson syndrome (erythema multiforme major)
Most severe form of erythema multiforme is most commonly seen in females and involves sloughing of skin and mucosal surfaces Toxic epidermal necrolysis (TEN)
Common benign inflammatory condition of oral mucosa that principally affects the tongue, dorsum of the tongue and represents transient loss or atrophy of the filiform papillae Erythema migrans
Other names for erythema migrans Geographic tongue, benign migratory glossitis
Characteristic lesions seen on anterior 2/3 dorsum of tongue and show a pattern of erythema surrounded by a slightly elevated yellowish-white border; lesions may be circular, ovoid, serpiginous, or arc-shaped Erythema migrans (geographic tongue)
Lesions seen on tongue of erythema migrans may be Circular, ovoid, serpiginous or arc-shaped
With erythema multiform, small collections of neutrophils termed __________ are concentrated in the upper levels of the epithelium Munro abscesses
Uncommon groupd of disease that most likely have an immunologic cause that have a classic triad of signs including nongonococcal urethritis, arthritis, and conjuctivitis Reactive arthritis
Another name for reactive arthritis Reiter syndrome
3 clinical signs associated with reactive arthritis (reiter syndrome) 1. Nongonococcal arthritis 2. Arthritis 3. Conjunctivitis
First sign associated with reactive arthritis Urethritis
Common chronic dermatologic disease often affecting the oral mucosa that demonstrates papules with a surface that reveals a lace-like network of white lines Lichen Planus
When lichen planus is medication induced it is referred to as Linchenoid drug reactions
Lace-like network of white lines seen with lichen planus papules Wickham's striae
Two most common forms of Lichen planus 1. Reticular 2. Erosive
More common form of lichen planus Reticular
Form of lichen planus that is asymptomatic and involves the posterior buccal mucosa bilaterally with the characteristic Wickham's striae appearance Reticular lichen planus
Form of lichen planus that is more severe and has lesions with areas of erythema and ulceration that may have white radiating lines of varying degree and may cause desquamative gingivitis Erosive lichen planus
Disruption of the basal cell layer and basement membrane found with lichen planus that is typical is termed ________- Vacuolar or hydropic degeneration
Individual degenerating epithelial cells that appear as circular eosinophilic bodies in the lower portions of the epithelium in those with Lichen Planus Cytoid bodies, Civatte bodies
Most patients will need to be followed over time before the true nature of the condition can be confirmed. Serial photos of the lesions are extremely helpful on documentation of the changing clinical appearance. This is true for .... Lichen Planus
Occasionally, _________, can populate lesions of reticular lichen planus and will require antifungal therapy. Candida albicans
New treatment for erosive lichen planus that shows promise Aqueous tacrolimus rinse
Immune-mediated oral mucosal disease htat may mimic erosive lichen planus that produce antibodies directed against a 70-kD nuclear protein called deltaNp63alpha Chronic ulcerative stomatitis
Chronic ulcerative stomatitis produces autoantibodies directed against a nuclear protein, _________, which is an isoform of p63 deltaNp63alpha
Positive staining with IgG in the nuclei of basal and parabasal cells of chronic ulcerative stomatitis will show Stratified epithelium-specific antinuclear antibodies (SES-ANA)
This is more effective than topical steroids in the treatment of chronic ulcerative stomatitis Hydroxychloroquine
Sometimes occurs in recipients of allogenic bone marrow transplants where the new bone marrow cells perceive the new host tissue as foreign and attempt to destroy iy Graft-versus-host disease
When GVHD occurs within the first few weeks after bone marrow transplant Acute GVHD
When GVHD continues or if it persists for more than 100 days after the marrow transplant it is termed Chronic GVHD
Most patients that develop acute or chronic ________ will have oral involvement. GVHD
Patients with ______ will exhibit a fine reticular network of white striae that resemble lichen planus; ulcers may also be present giving the appearance of erosive lichen plans; salivary gland destruction may also result in xerostomia Graft-versus-host disease
Common chronic skin disease that affects 2% of the population with activated T-lymphocytes being a key factor in the pathogenesis of the disease Psoriasis
Classic clinical presentation of this disease is a well-defined erythematous plaque with white ti solver scale Psoriasis
In psoriasis, when the scale can be peeled off leaving a small pinpoint bleeding point it is termed Auspitz sign
11% of those with psoriasis can develop _______ and this can involve the TMJ psoriatic arthritis
Psoriasis also sees compact collections of neutrophills microscopically termed Munro abscesses
Two diseases with which munro abscesses may be seen 1. Erythema multiforme 2. Psoriasis
Significant immune-mediated systemic disease subdivided into several major clinical forms and is the most common collagen vascular or CT disease in the US Lupus erythematosus
The three clinical forms of lupus erythematous 1. Systemic lupus erythematosus (SLE) 2. Chronic cutaneous lupus erythematous (CCLE) 3. Subacute cutaneous lupus erythematosus (SCLE)
Form of lupus erythematosus that is a multisystem disease affecting the skin, oral cavity, internal organs including the heart and kidney with common symptoms of fatigue, malaise, fever, and weight loss; affects women 8x more Systemic lupus erythematosus
Most characteristic skin lesion associated with SLE that is a rash over the nose and malar areas called the "butterfly rash"
Most people with SLE can result in kidney failure from ________ and the _________. Proteinuria; nephrotic syndrome
Two heart conditions seen in those with SLE 50% of the time Pericarditis; Libman-Sacks endocarditis
Form of LE primarily affecting the skin and oral mucosa with only a few systemic signs or symptoms Chronic Cutaneous lupus erythematosus
Skin changes associated with chronic cutaneous lupus erythematosus that consist of disc-shaped, scaly, erythematous patches usually found on sun-exposed skin of the head and neck Discoid lupus erythematosus
Form of LE that has clinical manifestations between SLE and CCLE with skin lesions consisting of non-scarring erythematous areas of sun-exposed skin along with photosensitivity Subacute cutaneous lupus erythematosus
Microscopically, oral lesions of _____ are similar to those lichen planus or lichenoid mucositis. LE
Circulating antinuclear antibodies directed against _______ and ___________ are very characteristic of SLE, but are not seen in CCLE. double-stranded DNA; Sm protein
Most common cause of death in SLE is _________ Kidney failure
Rare immunologically mediated disease characterized by the deposition of dense collagen in skin and other organs; seen in adults and 3-5x more likely in males Systemic sclerosis
One of the first signs of systemic sclerosis is a vasoconstrictive event triggered by emotional distress or exposure to cold termed Raynaud's phenomenon
Resorption of the terminal phalanges associated with systemic sclerosis (scleroderma) Acroosteolysis
Scleroderma means Hard skin
Characteristic taut, ________, seen in association with scleroderma (systemic sclerosis) Masklike facies
Oral manifestation of systemic sclerosis that results in limited opening, gingival recession, dysphagia, and xerostomia Microstomia
Radiographic findings with this disease are generalized widening of the PDL space, resorption of the ramus of the mandible, coronoid process, condyle and mandibular symphysis Systemic sclerosis (scleroderma)
Localized form of scleroderma sometimes seen on the face and resembles a scar and is termed en coup de sabre (strike of the sword)
Diagnosis of systemic sclerosis is made from clinical signs supported by serologic testing for ____________ or ______________. Anticentromere antibodies; antitopoisomerase 1 antibodies (ant-Scl 70)
This is a disease that may represent a mild form of systemic sclerosis Crest syndrome
Another name for crest syndrome Acrosclerosis
CREST stands for C - calcinosis cutis r - raynaud's phenomenon e - esophageal dysfxn s- sclerodactyly t - telangiectasias
Multiple, movable, nontender subcutaneous nodules seen with CREST syndrome calcinosis cutis
Claw-like deformity of fingers seen with CREST syndrome sclerodactyly
The presence of ___________ helps confirm the diagnosis of CREST syndrome anticentromere antibodies
Acquired condition in which affected individuals develop a velvety brown pigmentation of the skin. usually affecting flexural areas such as the axilla Acanthosis nigricans
The importance of this acquired condition is that it may be a skin marker of internal malignancy Acanthosis nigricans
More common form of acanthosis nigricans seen in association eith DM, Addison's, hypothyroidism, acromegaly, Crouzon syndrome, and medications Benign acanthosis nigricans
Similar to benign acanthosis nigricans but seen in obese people Pseudoacanthosis nigricans
Form of acanthosis nigricans seen in association with internal malignancy, especially adenocarcinoma of the GI tract Malignant acanthosis nigricans
Spinous cells found in white sponge nevus that exhibit clearing of the cytoplasm along with perinuclear eosinophilic condensation which represent tangled masses of keratin tonofilaments are called "Cannon bodies"
Oral manifestation of incontinentia pigment include __________, ____________ ,and _________. Hypodontia; delayed eruption; hypoplasia of teeth
Hereditary Hemorrhagic Telangiectasia results from alteration of one of two genes 1. Endoglin (ENG) on chromosome 9 2. ALK1 gene on chromosome 12
Tuberous Sclerosis results from defect of one of two genes 1. TSC1 gene on chromosome 9 2. TSC2 gene on chromosome 16
Bullous pemphigoid develops with the production of autoantibodies directed against two proteins BP230; BP180
Majority of individuals with reactive arthritis (reiter syndrome) display _________ which is uncommon to most of the population> HLA-B27
Presentation of direct IF of tissue that shows deposition of IgG, IgM, and/or C3 in a shaggy, linear pattern at the basement membrane zone Lupus Band Test
Primary cause of death with systemic sclerosis (scleroderma) Pulmonary hypertension and HF
Created by: skeltobp