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| ectodermal dysplasia | inherited disorders of missing skin, hair, sweat glands, salivary glands, nails and teeth; has 200 subtypes
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| hypohidrotic ectodermal dysplasia | X-linked subtype of ectodermal dysplasia; heat intolerance, fine blonde hair, hypodontia and pointed crowns
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| white sponge nevus | inherited keratin defect of buccal mucosa bilaterally; diffuse white thickened plaques
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| hereditary benign intraepithelial dyskeratosis (HBID) | inherited skin disorder with lesions similar to white sponge nevi in addition to ocular lesions
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| Darier disease (keratosis follicularis) | AD disorder due to abnormal desmosomes; prussic patches on trunk and scalp with bad odor and cobblestone appearance of white lesions
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| warty dyskeratoma | isolated lesion like Darier disease but is unrelated; small papule on head and neck
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| Peutz-Jeghers syndrome | freckle-like lesions of hands, lips, and oral mucosa with intestinal polyposis; {intestinal polyps}- hamartomatous polyps concentrated in the small intestine, telescoping of intestines
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| hereditary hemorrhagic telangiectasia (HHT) | vascular hamartomas of skin and mucosa, spontaneous nosebleeds; pts develop aneurysms of lungs, liver, brain and brain abscesses occur due to right to left shunt
-consider antibiotic prophylaxis for dental treatments
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| Ehlers-Danlos syndrome | inherited CT disorders due to abnormal collagen; skin elasticity, bruising, flexibility
-Gorlin sign- touch tongue to nose
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| tuberous sclerosis | hamartomatous growths in brain (tubers); cause mental retardation, seizures and angiofibromas on face
-can cause enamel pitting on facial of anterior teeth, fibrous papules and gingival hyperplasia
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| Cowden syndrome | multiple hamartomatous growths (trichilemmoma) on skin of head and neck, acral keratosis, palmar/plantar keratosis, high risk for malignancies
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| epidermolysis bullosa | group of disorders of mucocutaneous blistering due to an defect in attachment; 4 types: simple, junctional, dystrophic and hemidesmosomal (Kindler syndrome)
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| direct immunofluorescence | detects tissue-bound antibodies
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| indirect immunofluorescence | detects circulating antibodies
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| pemphigus vulgaris | blisters of skin and oral mucosa due to autoantibodies against {desmoglein 3} and {desmoglein 1}, components of {desmosomes} that bind epithelial cells to each other
-oral lesions usually precede skin lesions, most often in posterior palate
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| positive Nikolsky sign | creation of new vesicles in pemphigus vulgaris by applying lateral pressure on normal skin
-{intraepithelial} separation occurs above basal layer
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| Tzanck cells | free-floating rounded spinous cells seen in pemphigus vulgaris
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| Rituximab | monoclonal antibody that targets B-cells, first line therapy for pemphigus vulgaris
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| paraneoplastic pemphigus | vere severe form of pemphigus seen in patients with malignancies (especially leukemias and lymphomas) that develops more quickly
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| mucous membrane pemphigoid | chronic blistering disease due to autoantibodies against basement membrane; more common than pemphigus
-denuded mucosa and ulceration can be diffuse or limited
-ocular involvement is most serious complication, can lead to blindness
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| desquamative gingivitis | gingival involvement of MMP; seen also in lichen plans, pemphigus and other ulcerative diseases
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| subepithelial | type of separation of epithelium from CT that occurs at the level of the basement membrane
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| anti-laminin 332 mucous membrane pemphigoid | form of pemphigoid associated with widespread involvement and risk of malignancy
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| bullous pemphigoid | most common autoimmune blistering condition; autoantibodies attack hemidesmosomes; bullae of skin with blisters containing eosinophils
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| erythema multiforme | acute, immunologic disease that occurs after recent infection; vesiculobullous process of skin that lasts 2-6 weeks and goes away
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| erythema multiforme minor | skin lesions with or without oral ulcers; characteristic target lesions
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| erythema multiforme major | widespread skin lesions with 2 or more oral mucosal sites
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| Stevens-Johnson Syndrome | oral, ocular, and genital lesions triggered by a drug reaction; seen mostly in young adults
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| toxic epidermal necrosis (TEN) | oral, ocular, and genital lesions triggered by a drug reaction; seen in older people, more severe than SJS
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| erythema migrans | benign inflammatory condition usually on dorsal tongue, taking off the fungiform papillae
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| Munro abscesses | collections of neutrophils concentrated in upper spinous layer of epithelium in erythema migrans
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| lichen planus | dermatologic disease of unknown etiology on oral mucosa; lace-like white lines {Wickham's striae}
-lesions seen bilaterally and change patterns over time
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| lichenoid drug reaction | medication-induced lesions that look like lichen planus
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| lichenoid foreign body gingivitis | lesions that look like lichen planus but isolated to gingiva and non-migratory; often due to dental materials
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| reticular lichen planus | asymptomatic, involving posterior buccal mucosa bilaterally with interlacing white striae; most common type of LP
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| erosive lichen planus | presents with tissue-damage and pain, ulcers with white periphery and can be confined to gingiva {desquamative gingivitis}
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| aqueous tacrolimus rinse | rinse that can manage erosive LP by inhibiting T-cell activation
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| chronic ulcerative stomatitis | immune-mediated mucosal disease that mimics erosive lichen planus, antibodies against delta-Np63alpha
-presents with desquamative gingivitis, ulcers on tongue and buccal mucosa; tongue can look like {cracked river bed} appearance
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| hydroxychloroquine | most effective drug for chronic ulcerative stomatits; anti-malarial
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| graft-versus-host disease | occurs in marrow transplant patients when transplant tissue tries to destroy host tissue; lichenoid white striae, ulcers, salivary gland destruction
-{acute GVHD} occurs in first few weeks
-{chronic GVHD} occurs after 100 days
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| psoriasis | activated T-cells create white scaly plaques on scalp, elbows, and knees
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| Auspitz sign | when plaque is peeled off, leaves small pinpoint bleeding point; seen in psoriasis
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| lupus erythematosus | immune-mediated systemic disease that affects collagen vasculature and CT; oral lesions like lichen planus and deep infiltration of inflammatory cells, kidney failure is most common cause of death
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| systemic lupus erythematosus | multi system disease affecting skin, oral cavity, kidney and heart; fatigue, weight loss, arthritis, butterfly rash
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| chronic cutaneous lupus erythematosis | mostly affects skin and oral mucosa with fewer systemic issues; exhibits discoid lupus erythematosus
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| discoid lupus erythematosus | skin changes in lupus, disc-shaped scaly patches on head and neck; exacerbated by the sun
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| subacute cutaneous lupus erythematosus | condition between systemic and chronic cutaneous lupus with non scarring lesions
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| systemic sclerosis / scleroderma | immunologic disease of deposition of dense collagen in skin and organs; primary cause of death: pulmonary hypertension and heart failure from pulmonary fibrosis
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| Raynaud's phenomenon | first sign of scleroderma, vasoconstriction triggered by stress or cold
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| morphea | localized scleroderma, sometimes called linear scleroderma
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| Crest syndrome (acrosclerosis) | mild form of systemic sclerosis, confirmed by presence of anticentromere antibodies; calcinosis cutis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, telangiectasis
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| anticentromere antibodies | presence confirms diagnosis of Crest syndrome
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| acanthosis nigricans | velvety brown pigmentation, especially in axilla; indicative of internal malignancy
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| benign acanthosis nigricans | brown pigmentation seen in association with diabetes, Addison's disease, medications and obesity
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| pseudoacanthosis nigricans | acanthosis nigricans associated with obesity
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| malignant acanthosis nigricans | brown pigmentation seen with internal malignancy, especially GI adenocarcinoma
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aharnold
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