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116 Cards in this Set
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Definitions
1. Macule 2. Papule 3. Nodule 4. Plaque 5. Vesicle 6. Bulla 7. Pustule 8. Lichenification |
1. circumscribed flat discolored area
2. elevated, <5mm 3. elevated, dome shaped >5mm 4. elevated flat topped >5mm 5. fluid filled raised lesion <5mm 6. " " >5mm 7. discrete pus filled raised lesion 8. thick skin w/ accentuated markings |
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Definitions
1. Hyperkeratosis 2. Parakeratosis 3. Spongiosis 4. Acanthosis 5. Acantholysis 6.Pagetoid spread |
1. increased thickness of stratum corneum
2. retention of nuclei in stratum corneum 3. Intercellular edema in the epidermis 4. epidermal hyperplasia 5. loss of intercellular connxs b/t keratinocytes 6. extension of melanocytes w/ pale cytoplasm into the upper layres of epi. (melanoma) |
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Lentigo
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Benign local hyperplasia of melanocytes. Small, oval, brown macules
~ linear melanocytic hyperplasia in basal cell layer/ follicles of epidermis ~ hyperpigmentation - ^melanin, no ^ in melanocyte numbers. ~ does not react to UV (unlike freckles) ~ melanocyte stains - S100, Fonatana, Masson. |
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Melanocytic Nevus
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benign proliferation of melanocytes. (moles). Tan brown uniformly pigmented macule/papules. well defined borders.
~ junctional - at dermoepidermal unction ~ Compound - nests at DEJ and in dermis. ~ intradermal |
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Congenital Nevus
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Birthmark. Small, large, giant varations.
~ deep dermal and subQ infiltration of melanocytes (drop into dermis and eventually all compound.) ~ adnexocentric and angiocentric ~ Giant variant can have hypertrichosis, irregular borders, and have ^^ risk of melanoma. |
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Blue Nevus
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Nevus that may be present at birth. Blue/black nodule
~ non nested dermal infiltrate of dendritic pigmented melanocytes. ~ benign, no epidermal involvement |
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Spitz Nevus
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Nevii common in children. Red pink nodule often confused for hemangioma
~ large epitheliod spindle shaped melanocytes in a fasicular pattern |
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Halo Nevus
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seen in vitiligo, nevus with light colored background from host immune response against the melanocytes.
~ dense lympho infiltrate mixed w/ nests of melanocytes. |
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Dysplastic Nevus
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Nevi w/ a 4200x higher risk of melanoma.
~ large size, varaible color, irregular borders. ~ prominent junctional component w/ bridging nests. ~ AD inheritance, CDKN2A on 9p21, CDK4 on 12q14 |
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Malignant Melanoma
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Malignant neoplasm of melanocytes in skin (oral, anogenital mucosa, esophagus, meninges, eye).
~ @ risk, ^sun, hereditary, fair skin, dysplastic nevus syndrome, large congen. nevi, Xeroderma, Von Recklinghausens. ~ Asymmetry, irregular Borders, variation in Color, large Diameter, Elevated. (ABCDE). ~ dev. of a new lesin in adult, changes, itching, pain/erosion. ~ pagetoid spread of melanocytes w/ pale/clear cytoplasm ~ radial or vertical growth. ~ most important prognostic factor is thickness (depth). ~ presence of ulceration, clarks levels. ~ Types : Lentigo maligna melanoma, superficial spreading melaoma (common), Acral/mucosal lentiginous melanoma (poor prog, old asians). Nodular (worst, rapid, vertical growth). ~ CDKN2a on 9p21, AD, ^ RAS, PI3K/AKT pathways, BRAF mut. ~ early Dx is best treatment |
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Seborrheic Keratosis
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Most common benign epidermal tumor.
~ middle aged - elderly ~ tan/brown round plaque. Stuck on., trunk, extremities, head, neck. ~ can occur explosively in large numbers w/ paraneoplastic syndrome. (sign of Leser Trelat) ~ assoc w/ GI carcinoma ~ histo - sharply demarcated prolif of small round cells in epidermis ~ hyperkeratosis ~ psuedo-horn cysts (onions!) |
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Acanthos Nigricans
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Thickened hyperpigmented zones of skin. Flexor surfaces.
~ Benign variant - 80%, AD, variable penetrance, assoc w obesity/endocrine. gradual dev. ~ malignant type - middle age, underlying cancer. Assoc w/ GI adenocarcinoma. ~ Histo - epidermal hyperplasia, hyperkeratosis, basal cell hyperpigmentation w/o melanocyte hyperplasia. |
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Epithelial Cyst
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Common lesions. Invagination/expansion of epidermis, filled w/ keratin and lipid debris.
~ dermal/subQ well defined firm movable nodules. ~ histo - lined by epithelium, filled w/ keratin, trichilemma (pilar), Dermoid (adnexal structures), Steatocystoma (lining resembles sebaceous gland) |
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Adnexal Tumors
1. hair follicle tumors 2. sebaceous tumors 3. apocrine tumors 4. eccrine tumors 5. Cowden syndrome 6. Muir Torre syndrome |
Most benign. mendelian inheritance. Multiple disfiguring lesions. Markers for internal malignancy
1. Trichoepithelioma, trichilemmoma 2. Sebaceous adenoma (benign), carcinoma (malig) 3. cylindroma (turban tumor), apocrine carcinoma (fatal) 4. syringoma (benign, mult. eyelids), poroma, eccrine carcinoma 5. Multiple trichilemmomas/visceral carcinomas. PTEN tumor sup mut. 6. mult. sebaceous tumors, visceral carcinomas DNA mismatch repair mut. |
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Actinic Keratosis
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dysplasia of epidermis from chronic sun exposure.
~ tan/brown scaly plaques <1cm face, trunk, extremities. ~ cutaneous horn (keratin) ~ dysplasia in epith, once full thickness = SCC in situ. ~ histo - parakeratosis, hyperkeratosis (blue), hyperplasia of basal layer. Solar elastosis |
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Squamous Cell Carcinoma
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Second most common skin tumor.
~ sun exposed older adults M>F ~ at risk - UV, chronic ulcers, draining osteomyelitis, burns, arsenic,XP, HPV 5 and 8 etc. ~ UV --- DNA damage, dec surveillance of Ag presenting Langerhans cells. Chronic immunosuppression ~ sharply defined red, scaling, plaques. -- hyperkeratotic ulcerated nodules. Face/ back of hands ~ Full thickness atypia of keratinocytes. Keratin pearls. ~ Tx local excision. less than 5% metastasize. |
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Keratoacanthoma
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Rapidly growing neoplasm that regresses spontaneously. SCC variant. Flesh colored, dome shaped nodule w/ central crater.
~sun exposure, caucasian >50yo ~ central crater surrounded by large glassy eosinophilic cells. ~ fast lymphocytic and eosinophilic host response |
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Basal Cell Carcinoma
1. Nevoid Basal cell Carcinoma syndrome |
most common invasive cancer in humans.
~ slow growing, rarely metastasize ~ @ risk - sun, immunosuppressed, inherited DNA repair mut. ~ pearly papules/ telangiectasis. ~ histo - nests of basaloid cells w/ peripheral palisading (fence). Stromal separation - retraction artifacts. Blue cells, low cytoplasm no keratin pearls. ~ 1. - AD, numerous neoplasms before age 20. bone, CNS, eye, reproductive abnormalities. ~ younger pts. |
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Benign Fibrous Histiocytoma BFH (Dermatofibroma)
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benign dermal proliferation of fibroblasts, histiocytes.
~ tan/brown firm slow growing papules. Often lower leg. ~ well defined fibroblast prolif. in mid dermis. lots of pink spindle cells. Some ^BVs, sclerosing hemangioma pattern. |
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Dermatofibrosarcoma Protuberans
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Slow growing, locally aggressive fibroblastic tumor of skin. Well diff, primary fibrosarcoma of skin.
~ COL1A1, PDGF-B translocation ~ firm solid white nodules. Trunk/extremities -- multinodular ulcerative masses. ~ pinwheel fibroblasts. deep into SubQ fat like honeycomb. (vs BFH) |
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Mycosis Fungiodes (Cutaneous T cell Lymphoma/CTCL)
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T cell lymphoproliferative disorde rin skin and lymph.
~ red/brown scaly raised plaques and fungating nodules. Trunk, extrem, face, scalp. ~ prog by degree of body involvement. ~ Sexary syndrome - seeding of blood by malig. T cells. erythroderma sezary cells. ~ histo - band of T helper cells in upper dermis/epidermis. Pautrier microabscesses and epideromtropism ~ indented nuclei, CD4+, ^lymphos, no neutros (not really abscesses) ~ tx topical steroids, UV light if early. Chemo if late. |
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Mastocytosis
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^ mast cells in skin/ organs.
~ histamine/heparin release ^^ ~ Urticaria Pigmentosa (50%) kids ~ Systemic Macrocytosis (10%) adults, poor prognosis. ~ Darier sign- localized dermal edema when rubbed. ~ Histo - dermal agg. of mast cells, Toludine blue/Giemsa staiins - metachromatic granules. ~ pt mut in cKIT -- ^mast cells. |
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Ichthyosis
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Disorder of epidermal maturation - fishlike scales.
~ ichthyosis vulgaris - AD or acquired (lymph of viscera malignancy paraneoplastic syndrome) ~ congenital ichthyosiform erythroderma - AR ~ X linked ichthyosis. ~ histo - hyperkeratosis, no inflamm. very thick keratin in cornea stratum. ~ defective mech of desquamation |
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Urticaria (hives) (acute inflammatory dermatosis)
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Local mast cell degranulation leading to dermal microvascular hyperperm. and wheals.
~ angioedema if deeper edema of dermis and SubQ. ~ small pruritic papules to large edematous plaques at pressure points. if persistant - underylying collagen vasc disorder or hodgkins ~ Sparse superficial perivasc lympho infiltrate. Dermal edema. ~ dermatopgraphism. ~ Ag induced vasoactive mediator release from mast cells, IgE. |
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Hereditary Angioneurotic edema
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complement mediated urticaria.
~inherited def. of C1 inhibitor-- uncontrolled activation of early complement system. ^vasoactive mediators |
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Eczemetous Dermatitis (Eczema)
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red papulovesicular oozing and crusted lesions.
~ types: allergic contact, atopic, drugs, photoeczematous, primary irritant. ~ Histo: spongiosis. Eosinos in drug/contact. subacute - more scaly, less spongy. Chronic - hyperkeratosis, epideermal hyperplasia, minimal spongiosis. ~ T cell mediated (type IV hypersensitivity). |
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Erythema Mutiforme
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Acute cytotoxic T cell hypersensitivity rxn to infections and drugs. (also malignancy and vascular disease)
~ extremities. Target lesions. (HSV). Multiform, macular papules, vesicles, occasional large flacid bullae. ~ fever often. ~ Hallmark of necrotic keratinocytes single or clusters. ~ may be mediated by CD8+ T cells. |
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Steven Johnson Syndrome
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Purpuric macular lesions, w/ epidermal detachment.
~ drug associated ~ more sever form of erythema multiforme ~ skin and mucosa involved ~ truncal involvement. |
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Toxic epidermal necrolysis
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Most severe form of multiforme erythema.
~ widespread blotchy erethema followed by flaccid bullae and detachment of epidermis. ~ usually drugs (sulfonamides, beta lactams, NSAIDS) ~ high mortality ~ full thickness epidermal necrosis. |
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Psoriasis
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Chronic dermatosis of unknown etiology (2% Us pop).
~ assoc - arthritis, myopathy, enteropathy, spondylitis, AIDS. ~ extensor surfaces. well demarcated, salmon colored plaques covered by thick white scale. nails involved in 30% ~ pustular, eruptive, guttate, erythrodermic. ~ histo- Munro's microabscesses - parakeratosis w/ neutros., epidermal hyperplasia w/ elongated rete ridges and thin suprapappillary plates. ~ dilated tortuous bvs in dermal papillae. - Auspitz sign. ~ T cell mediated, HLA-C. ~ Koebner phenomenon - trauma induced psoriasis |
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Lichen Planus
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Self limiting disorder of skin, mucous mem, hair follicles and nails. Pruritic flat topped violaceous papules w/ fine scale.
~ flexor surfaces, lower back, glans penis ~ hypergranulosis - Wickham's striae. ~ oral lesions - lacy reticular network of papules on bucca or tongue. SCC can occur ~ histo - compact hyperkeratosis, hypergranulosis, irr. epidermal hyperplasia ~ band like lympho infiltrate in superficial dermis obscures DEJ. ~sawtooth acanthosis. Civatte bodies, melanophages, lichen planopilaris |
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Pemphigus
1. pemphigus vulgaris 2. Pemphigus vegetans 3. Pemphigus foliaceus 4. Pemphigus erythematosus 5. Paraneoplastic Pemphigus |
Autoimmune blistering in 4-6th decade of life. Desmoglein IgG autoAbs.
~ intraepidermal acntholysis, intercellular Ig netlike pattern 1. most common, large flaccid bullae. Rupture easily. +niklosky sign. Oral lesions. (scalp, periocular, sternum, midback, groin). Basal layer stays on dermis, desmoglein breaks down, lose intracellular cnxns, rupture. 2. rare. blisters and verrucous vegetating plaques. 3. benign, superficial. endemic in Brazil. 4. localized, less sever form of 3 5. w/ lymphoid neoplasms, non hodgkins lymphomas. |
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Bullous Pemphigoid
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Autoimmune vesicobullous disease in elderly. Hemidesmosomeal layer, tense bullae of trunk, extremet, interigenous areas.
~bullae filled w/ clear fluid, do not rupture, heal w/o scarring. ~ oral lesions in 10-15% ~ (-) niklosky sign ~ Histo - subepidermal, non acantholytic vesicle of eosinos. ~ IF - Linear C3/IgG in BM. ~ autoAbs to BPAG2 |
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Dermatitis Herpetiformis
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Pruritic, symmetric, grouped papulovesicles of elbows knees, back, butt, scalp.
~ 3-4th decade M. ~subepidermal bullae of neutros. ~ neutro micorabscesses @ tips of dermal papillae. ~ IF - IgA deposits in derm. pap. ~ Assoc celiac. IgA abs cross react w/ reticulin separate DEJ fibrils at BM zone. |
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Acne Vulgaris
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Common in youth. Non inlammatory type with open/closed comedones or inflammatory type w/ erythemous papules, putules, nodules
~ nodulocystic type and conglobata are disfiguring and severe expressions of this disorder ~ Histo- Comedones, dilated follicular infundibulum plugged w/ keratin, lipids, bac. ~ rupture of follicular wall -- inflammatory rxn |
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Rosacea
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Common in middle age and ^. Flushing -- persistant erythema/telangiectasia -- pustules/papules --- rhinophyma (nose gets big, sebaceous glands enlarged).
~ High levels of endogenous antimicrobial peptied cathelicidin. ~ Histo - nonspecific perifollicular inflammation. Dermal edema/telangectiasia. Follicular pustule/rxn to rupture. Sebaceous glands hypertrophy and follicles plug by keratotic debis. |
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Epidermolysis Bullosa
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gropu of simplex junctional dystrophic disorders. Inherited defects in structural proteins of the DEJ
~ blisters @ sites of trauma ~ ^ scarring -- healing -- burst -- scarring. ~ separation of sub epidermal/ basal layer w/ no inflamm. calls. |
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Impetigo
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most common skin infection. Superficial, caused by S. aureus (Group A, b hemo strep).
~ highly contagious, in healthy children. (compromised adults). ~ Histo identical to pemphigus. ~ 2 forms Contagiosa - sub corneal pustule of gram +cocci) Bullosa - intraepidermal blister, bac toxin cleaves desmoglein I. (Toxin A&B, exfoliative toxin of s.aureus.) |
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1. Faruncle/ 2. Carbuncle
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Suppurative inflammation of skin and subQ tissue from staph.
~ around follicles. ~ 1. face, axillae, groin, legs, submammary folds (moist hairy areas) ~ 2. beneath skin of upper back ad post neck. |
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Staphylococcal Scalded Skin Syndrome
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Toxin mediated exfoliative dermatitis in kids w/ staph infections of nasopharynx or skin.
~ sunburn like rash spreads over body. fragile bullae, slough skin. ~ Histo - intraepithelial split @ granular layer. Lose superficial layers of epidermis. ~ desmoglein I. |
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Leprosy
1. Tuberculoid 2. Lepromatous 3. Borderline |
endemic disease of tropical areas fromMycobacterium leprae affecting skin and periph. nns.
~ aerosol p2p transmission. ~ 1. maximum host response. lesions are scant dry scaly hypopigmented plaques w/ neuronal involvement. trunk/extremeties. Anesthesia histo - large, elongated epithelioid granulomas, dense periph lympho infil. arranged - neurovasc. bundles. ~ 2. mutliple symmetric macules, papules, nodules. Min. host response. Face, ulnar/radial/peroneal nn involvement histo - dense dermal infil. of foam cells (few lymphos/plasmas) ~ 3. less lesions, and less symm. histo - foamy macros, epithileoid histiocytes in disarray. ~ Fite stain of acid fast bacillus. |
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Herpes Simplex Virus (HSV)
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Vesicular lesions that resolve in a few weeks. Virus replicaes in skin/mucus, travels axons to cell bodies - latent.
~ reactivation ~ cold sores, gingiovostomatitis to life threatening diss. visceral inf. ~ gential herpes, keratitis, encephalitis. ~ Kaposi vericelliform eruption, and eczema herpeticum in immunocompromised. ~ histo - intraepithelial vesicle, ballooning degen of epidermal cells. Giant cells w/viral inclusions. |
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Varicella Zoster Virus (VZV)
1. Chicken Pox 2. Shingles 3. Ramsay Hunt syndrome |
Viral infections w/ histo vesicles of multinuc giant cells w/ intranuclear inclusions. Epithelial cells not macros (HSV)
1. rash 2 wks post resp. infection. centrifugal spread. Macule-- vesicle. (dewdrop on rose petal). Heals w/o scarring. 2. reactivation in dorsal root ganglia. follows sensory nn in dermatomal distro. Burn/sharp pain, radiculneuritis. 3. fcial paralysis due to geniculate nucleus involvement. |
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Verruca
1. verruca vulgaris 2. plantar warts 3. verruca planta |
Benign epidermal proliferations from infection w/ HPV. Histo -- papillomatous/verrucus epidermal hyperplasia/cytoplasmic vacuolization (koilocytosis) Char.
1. most common wart. dorsal aspect of hands/feet. circum. papillomatous rough lesions 2. hyperkeratotic nodules on dorsal foot, painful. callus. 3. HPV3 assoc. face/larynx, dorsal hand. Mult. flesh colored papules in linear distro. |
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Molluscum Contagiosum
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common self limited viral infection from pox virus (DNA). Brick shaped EM.
~ multiple shiny discreet papules skin/mucous mem.,trunk/anogenital ~ spread by contact. ~ cupshaped, verrucous, epidermal hyperplasia ~ molluscum bodies ~ young kids in daycare |
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Superficial Dermatophytosis
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Caused by imperfecti fungi - epidermophyton, trichophyton, microsporum - superficial infections of keritinized tisues like cornified epidermis/hair/nails.
~ tinea capitis barbae, faciei, corporis, cruruis, pedis, maus, unguium. ~ sharply demarcated patches, arcuate border. ~ Malassezia furfur = viteligo. ~ PAS + fungal hyphae in cornified layer |
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Deep mycosis
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Cutaneous fungal infection or systemic (resp, RES).
~ often saphrophytic organisms (sprotrichosis, chromoblasto, histoplasma, coccidio, bastomy, cyptococc.) ~ histo - psuedoepitheliomatous hyperplaisa. Extensive suppurative/granulomatous inflammation in dermis. ~ neurophillic abscesses, giant cells. Fungus in cytoplasm. ~ GMS stain. Blasto BBB. Chromo- coper penies. Crypto - narrow based bud. Histo - clear halo spores. Sporo - intraepidermal abscess. |
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Leishmaniasis
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Chronic inflammatory disease of skin, muc-mem, viscera from intracellular protozoa.
~ sandfly transmission. ~ middle east/s. asia. africa/latin am. ~ exacerbated by t cell disorders like AIDS. ~ lesions are visceral, cutaneous(erythematous papules weeks post bite), mucocuaneous, or diffuse. ~ histo - dense diffuse infiltrate of histiocyte, scattered lymphos/plasmas in dermis. ~ early lesion - +parasites. late - tuberculoid type granulomas/lymphos. ~ GMS stain. ~ Black fever - wt loss, malaise, black skin, easily treated, mimics cancer. |
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Scabies
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Extreme pruritis in inguinal areas, b/t fingers/toes. Parasite burrows into skin leaving behind trail of feces.
~Bed bugs ~ ^ eosionophils. ~ Hypersensitivity rxn. |
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Thyroid Opthalmopathy (Graves disease)
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Orbit. Hypertrophy of extraocular muscles
~ Accumulation of extracellular matrix proteins • Often independent of the status of thyroid dysfunction • Smoking greatly increases risk of this |
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Orbit-Inflammatory Conditions
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• Thin walls-infectious dz of the sinus may
erode orbital cellulitis –Bacterial –Fungal (mucor in immunosuppresed) • Noninfectious conditions (Wegener’s) • Idiopathic Orbital Inflammation (orbital pseudotumor) |
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Orbital Neoplasms
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• Vascular are most common (hemangiomas)
• Lymphopoetic tumors (lymphomas, leukemias) • Primary tumors of orbital structures (eg. lacrimal gland) • Metastatic cancers |
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Eyelid-Malignancies
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• Basal Cell by far most common
• Squamous ca • Sebaceous ca –Up to 22% mortality |
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Conjunctiva
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• A non-keratinized stratified squamous
epithelium • Has goblet cells • Similar to mucosa of mouth • Function: –barrier to outside world – lubricator for cornea |
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Conjunctival Diseases
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• Scarring-serious condition that leads to
ocular surface problems –Trachoma - infection with the bacteria Chlamydia trachomatis. Cloudy, discharge, swollen eyelid, turned in eyelashes. –Pemphigoid - red, teary eye, keratinization –Chemical injury –Post-surgery |
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Pinguecula
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a common, non-cancerous growth of the clear, thin tissue (conjunctiva) that lays over the white part of the eye (sclera).
~small, yellowish nodule on the conjunctiva near the cornea. It can appear on either side of the cornea, but tends to nose (nasal) side. It may grow over years ~ Tx- Lubrication with artificial tears, and sometimes mild steroid eye drops ~benign but may grow over the cornea and impair vision. |
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Conjunctival Tumors
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• Carcinoma in Situ (CIN)
• Squamous Carcinoma • Nevi, Acquired Melanosis & Melanoma • Basal Cell Ca virtually unheard of in conj. |
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Sclera
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• Collagen, blood vessels, and fibroblasts
• Wound healing is poor • Scleritis-usually autoimmune • Sclera may appear blue when it gets thin |
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Pterygium
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non cancerous growth of the conjunctiva in one or both eyes.
~ painless area of raised white tissue, with blood vessels on the inner or outer edge of the cornea. ~ may become inflamed, burning, irritation, foreign obj. sensation ~ sun, dust, wind exposure predisposes ~ removal, or no Tx. can recur. |
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Cornea
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• 5 Layers:
–Epithelium –Bowman’s Layer –Stroma –Descemet’s Membrane –Endothelium • Works as major focusing element |
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Cornea-Keratitis
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Inflammation of the cornea
Pain, impaired vision, possible cornea perforation. • Bacterial –Contact lens wearers • Viral –HSV in anyone • Fungal • Amoebal |
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Cornea-Keratoconus
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degeneration of the structure of the cornea. shape changes from the normal round shape to a cone shape.
• Ectasia • Usually bilateral • Unknown pathogenesis • Associated with eye rubbing –Atopy –Down’s syndrome ~ Tx, hard contacts, or corneal transplant (rare). |
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Fuch's Corneal Dystrophy
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Normally, the cells that line the back surface (endothelium) of the cornea prevent excess fluid from accumulating in the cornea. This helps the cornea maintain its transparency. But with Fuchs' dystrophy, those endothelial cells slowly deteriorate and die off. As a result, fluid builds up in the cornea. This may cause swelling, cloudy vision, pain and loss of corneal transparency.
Corneal blisters, blurred vision in AM, poor night vision, photosensitivity, halo's. |
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Anterior Segment Anatomy
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• Anterior Chamber
–Bounded anteriorly by the cornea, laterally by the trabecular meshwork, and posteriorly by iris • Posterior Chamber –Much smaller, space between ciliary body, lens, & iris • Lens –Closed epithelial system (a cyst) enveloped by a capsule (basement membrane) |
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Anterior Segment-Cataract
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• Any clouding of the lens
–Age related –Medication induced (corticosteroid) –Systemic diseases (DM) • The leading cause of worldwide blindness • Highly variable appearance & significance Can progress (rarely) to glaucoma |
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Anterior Segment-Glaucoma
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Several diseases with common end-point (an optic neuropathy) Second most common cause of blindness in US.
• Usually characterized by high intraocular pressure from decreased aqueous humor clearance • 3 Main catergories: –Open angle-by far most common, angle dec., lens thickens/occludes angle, can cut off blood supp and snuff out optic nn. Hereditary. Asx until late. –Closed angle-very rare, painful, acute, emergent –Congenital/Juvenile |
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Uvea
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• Consists of Iris, Ciliary Body, and Choroid
• Uvea is latin for grape • Vascular coat • Pigmented |
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Uveitis
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• Describes any inflammation of Uvea
• Can be infectious- –TB, Syphillis, HZV, toxoplasmosis • Many cases are autoimmune- –HLA-B27 related diseases • Other Inflammatory Diseases: –Sarcoidosis, AIDS • Largest Category-Idiopathic! ~ Tx steroids |
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Uveal Melanoma
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• Malignant Tumor of melanocytes of Uvea
• Most common primary intraocular malignancy. • Most commonly in choroid, but can affect iris or ciliary body too. • 2 main cell types • Spindle, Tightly packed fusiform cells, subtypes A&B,Better prognosis • Epithelioid Cells- –Larger, more pleomorphic, Abundant cytoplasm, Distinct boundaries, More mitoses |
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Retina
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• Functions as the film in our camera
• Absorbs light • Transduces light into electrical impulses • Transmits impulses to brain via optic nerve • Like Anterior Brain tissue :White matter-NFL& plexiform layer. Gray matter-nuclear & ganglion layers. • Blood-retinal barrier is akin to blood-brain barrier. • Glial Cells exist in retina-Müller cells, small astrocytes, and maybe oligodendrocytes. |
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Retinal Detachment
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• Separation between neurosensory retina and RPE (potential space)
• 3 Categories: –Rhegmatogenous - rip, vitreous enters,separates the sensory retina from underlying RPE –Serous -subretinal fluid accumulates and causes detachment w/o tear –Traction -adhesions between the vitreous gel and the retina. • Eventual degeneration of retina if detached -- blindness |
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Retinal Vascular Disease
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• Arteriosclerosis is VISIBLEin the retina
• Vascular occlusive disease –Venous –Arterial |
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Diabetes Mellitus
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• Major cause of visual impairment in the US
–2% of American diabetics are visually impaired • The leading cause of preventable blindness in US • Screening, recognition, treatment! |
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Diabetic Retinopathy
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• Basic processes-
–Loss of vascular pericytes –Microaneurysms –Vascular shunting –Exudation (leaky vessels) –Ischemia (CWS) –Hemorrhage (similar to HTN) –Proliferation-vascular response to hypoxic neural damage |
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Retinopathy of Prematurity
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• Immaturity of vascular supply of retina in premature infants
• Vasoproliferative disease • Ultimately can cause retinal detachment and blindness • Current treatment regimens include laser, cryotherapy, and surgery |
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Age Related Macular Degeneration
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• Macula= central retina
• Age-Related Mac Degen- –Atrophy of RPE (dry) below the retina, vision loss through loss of rods and cones in the central part of the eye. –Drusen (dry) accum on bruchs membrane, hard, yellow/white –Subretinal Neovascularization (wet) vision loss due to abnormal blood vessel growth (choroidal neovascularization) in the choriocapillaris, through Bruch's membrane, ultimately leading to blood and protein leakage below the macula. Tx with anti angiogenics. |
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Retinitis Pigmentosa
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• Waste-basket term
• Many diseases with common end points: –Degeneration of retina –Loss of Photoreceptors –Focal proliferation of RPE –Migration of RPE into neural retina • Can be inherited as AD, AR, or X-linked • Most common cause of deaf-blind is Usher’s syndrome (think Helen Keller) • Starts as night blindness, then peripheral loss, then central loss. |
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Retinoblastoma
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• Most common malignant eye tumor of childhood
–1% of all cancer deaths in <15yrs old • Can be inherited or sporadic • Inherited= bilateral or trilateral • Knudson’s 2-Hit hypothesis –1 in 17,000 live births –Most are before age 3 • Usually fatal if it has spread out of eye • Treated with radiation, laser, cryotherapy, chemo and/or enucleation |
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Optic Nerve-Diseases
1. Optic neuritis 2. Optic atrophy 3. Tumors |
1. inflammation of nerve Commonly associated with MS
2. Common end-point of much optic nerve disease 3.Meningioma, Glioma • Glaucoma is an optic neuropathy • Ischemic Optic Neuropathies (AION) is the most common cause of acute optic neuropathy in older age nonarteritic (nonarteritic anterior ischemic optic neuropathy [NAION]) ~ arteritic -associated with giant cell arteritis. visual loss optic disc swelling, flame hemorrhages,cotton-wool exudates. Visual loss sudden |
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Phthisis Bulbi
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shrunken, non-functional eye that results from severe ocular disease, inflammation, or injury
Common end stage of many eye diseases • Atrophy • Shrinkage • Disorganization • Many eyes are removed because they are blind and painful |
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Spinal Muscular Atrophy (SMA)
Type 1, 2, 3. |
Motor neuron disease. AR inherited.
~ chom. 5 deletion/mut survival motorn neuron gene. (90%pts). ~ 1. onset at birth/1st 4mos. 2/3 early/ater childhood and live longer ~ large round atrophic fibers, whole fasicles (panfasicular atrophy), scattered hypertrophic fibers. |
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Amyotrophic lateral sclerosis
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Motor Neuron disease. 5th decade, sporadic w/variable degree of UMN/LMN involvement.
~weakness, spastic, dec mm bulk, fasciculations, resp. failure. ~ atrophy of ant. motor spinal root in lower cervical spine due to ant. horn cell loss. Degen ant/lat corticospinal tracts. Neurogenic atrophy of skel mm. |
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Duchenne Muscular Dystrophy
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X linked muscular dystrophy.
most common lethal pediatric disorder. ~ sx by 5 yrs, wheelchair by 10, death 20s. Normal at birth, delayed walking, pelvic weakness -- shoulder. ~ psuedohypertrophy, arrhythmias, cognitive impairment, death due to resp insufficiency. ~ almost no dystrophin present on immunostain. ~ internalized nuclei, fiber phagocytosis/regen., CT prolif/replaced by fat. |
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Becker Muscular Dystrophy
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X linked muscuar dystrophy. Childhood onset, slow/variable progression.
~ normal lifespan ~ some abnormal dystrophin protein present. ~ internalized nuclei, fiber phagocytosis/regen., CT prolif/replaced by fat. |
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Limb Girdle Muscular Dystrophy
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Autosomal muscular dystrophy. affects proximal trunk/limb mms.
~ mut in dystrophin associated glycoproteins. ~small round hypertrophied fibers, central nuclei, fiber necrosis/regen, fiber splitting, ring/moth eaten/lobulated fibers. Endomysial fibrosis. |
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Myotonic Dystrophy
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AD muscular dystrophy w/ anticipation
~ chrom 19. myotonin prot. kinase ~ expansion of trinuc repeat ~ Myotonia, in late childhood, onset weakness of foot flexors, ptrogress to intrinsicmm/extensors of hands/face/ptosis. ~ cataracts, balding, gonadal atrophy, cardiomyopathy, cognitive impairment ~ ^ number of internal nuclei, prominent ring fibers, Type 1 fibers preferentially affected. ~ fiber degen/regen, some fibrosis |
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Mitochondrial myopathies
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Mut to mitochondrial or nuclear genome affecting resp chain.
~ sx usually proximal mm weakness, eye mm, CNS. exacerbated by use. ~ on biopsy- accum mito/metabolic products. ~ ragged red fibers on Gomori trichrome stain. EM - parking lot inclusions. |
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Glycogen Storage diseases
1. Pompes disease 2. McArdles disease |
hereditary deficiency of enzyme in sytheses or degradation of glycogen. 3 subgroups, hepatic, myopathic, generalized storage.
1. glycogen storage in organs, esp heart, liver, mm. death in early life. if specific enzyme def can be measured in skel. mm. Presents in infancy. 2. phosphorylase deficiency. type V glycogenosis. skel mm only. cramps/myoglobinuria after exercise. No lactate rise. Onset in adulthood. excess glycogen in fibers. |
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Polymyositis
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immunologically mediated injury and inflammation of skel mm. Progressive bilateral symm. weakness of prox. mms
~ adults, not assoc w/ cancer ~ scattered degen/regen fibers. ~ necrotic fibers. ~ cell mediated CD8+/macro injury ~ lymphos surround/invade healthy mm (endomysial inflamm) ~ no vascular injury. ~ assoc w/ collagen vascular disease, CT disease (SLE, polyarteritis, SS.) |
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Dermatomyositis
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immunologically mediated injury and inflammation of skel mm.
~ adults w/ distinct skin rash - purple eylids, periorbital edema. ~ bilateral symmetric prox mm weakness and pain. ~ ^^ risk of visceral cancer (40%) ~ microvascular attacked by Abs/C, ischemic necrosis of mm. ~ inflamm in perimysium around bv's. ~ perifasicular atrophy char. Dx even in absence of inflamm. ~ hypoperfusion of fasicle. |
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Inclusion Body Myositis (IBM)
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immunologically mediated injury and inflammation of skel mm.
Most common muscle disease in >50yos. ~ assymmetric, progressive distal mm ~ rimmed vacuoles w/ basophillic granules in myocytes ~ EM - tubular filamentous inclusions (Bamyloid, or tau) ~ fiber dege/rege/inflamm cell infiltrate. ~ Does not respond to immunosuppresive therapy. |
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1. Ethanol Myopathy
2. Drug induced myopathy - Steroids |
1. acute toxic sydrome of rhabdomyolysis and myoglobinuria that may lead to RF.
~ myocytes swell, fiber necrosis, phagocytosis, regeneration. ~ painful mm weakness 2. may cause proximal mm weakness/atrophy. Not dose dependent. ~ FIber atrophy, type 2 esp. ~ can be from Cushings |
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1. Mononeuropathy
2. Mononeuropathy multiplex 3. Peripheral polyneuropathy 4. Polyradiculoneuropathy |
1. M/S impairment in on e nerve. (trauma, entrapment)
2. multiple focal lesions of periph. nn.s M/S impair in distro of several separate nns. (generalized process polyarteritis nodosa) 3. multiple nns, bilateral/symm. (stocking glove, diabetic polyneur.) 4. multiple nerve roots, periph nn. (Guillain Barre). |
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Guillain Barre Syndrome (Acute Inflammatory Demyelinating Polyradiculoneuropathy)
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Inflammatory Neuropathy. Progresses over hours/days of symmetric weakness/areflexia.
~ ascending paralysis ~ 2/3 have hx of preceding infection. ~ CSF prot elevated, NCV slow, reduced fiber numbers. ~ chronic inflamm accompanied by segmental demyelination. Spinal nns/roots near DRG most common. (CN 3-12 also) ~ autoimmune attack on myelin. ~ Assoc. C jejuni, cytomegalovirus, EBV, mycoplasma penum. |
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Chronic Demyelinating Polyneuritis
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Resembels Guillain Barre but w less acute and recovery.
~ recurs frequently. ~ often sensory as well as motor (unlike GBS) ~nn biopsy may have onion bulb changes |
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Vasculitic neuropathy
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Distal assymetric sensorimotor polyneuritis (SLE) or mononeuropahy multiplex (polyarteritis nodosa).
~ Biopsy - inflamm, fibrinoid necrosis in vessles. -- ischemia/axonal degeneration. ~ regional variation in axonal # b/t fasicles, some ischemic degenerated fasicles. |
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Leprosy
1. lepromatous 2. tuberculoid |
Infectious polyneuropathy. Most common treatable neuropathy in the world.
~ acid fast M. leprae cause. ~ spread by direct contact. 1. more severe, baccili prolif in schwann cells/macros in exposed skin. inflamm infitrate in periph. nn. Symmetric polyneuropathy w/ pain fiber inovlement - lose sensation. Segmental demyelin/remyelin, axonal loss. 2. less severe. nn injured by granuloma/scar nearby, endoneurial caseating necrosis. - mononeuropathy multiplex. more localized. |
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Herpes Zoster (Shingles) Neuropathy
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Proliferate after laying dormant in DRG/cranial nn ganglia. transported anterograde to cutaneous nn distro.
affected ganglia have chronic inflamm and neuronal destruction. Periph nn have axonal degen. |
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Charcot Marie Tooth Disease (hypertrophic/peroneal muscular atrophy)
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Most common hereditary peripheral neuropathy. AD. 1/2nd decade.
~ distal leg atrophy/weakness. Foot drop, stork leg. Some stocking glove/weakness in arms, scoliosis ~ CSF protein elevated. NCVs <65% normal in M/S ~ nerve biopsy - segemental demyelination/remyelin, schwann cell prolif. Collagen deposition. ~ onion bulbs. ~ posterior column degeneration on autopsy. ~ HMSN I. 17p11.2-12 duplication!! Pmp22 duplication or deletion. |
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Porphyric Neuropathy
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acute/subacute symmetric disorder of mm nerve w/ hepatic porphyria, etc.
~ AD inheritance. resembles GBS, but axonal degen/regen clusters on biopsy ~ abnormal urinary heme breakdown products. |
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Diabetic Neuropathy
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50% pts have sx peripheral neuropathy after 25 yrs. Thick/hyalinized neural vessels. double basal lamina
~ symmetrical polyneuropathy type - most common. distal, stocking glove, parasthesias, dyesthesia, distal weakness. Axonal - small unmyelinated fiber loss. ~ focal/multifocal type - assymm. lower limb motor neuropathy. ischemic basis, axonopathy, demyelination ~ autonomic neuropathy type - orthostatic hypoTN, impotence, abnormal motility, loss of symp tone, small pupils. |
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Trauma Neuropathies
1. Neuroma 2. mortons neuroma 3. Carpal Tunnel |
1. non neoplastic prolif of nn from injury. disordered prolif axons, schwanns, fibros, perineural cells.
2. reactive, non neoplastic. women, paroxysmal sole pain. fusiform plantar digital nn b/t 3/4 metatarsal heads. loss of myelin/axons. fibrosis, vascular sclerosis. 3. compression of medial nn w/in wrist transverse carpal ligaments. assoc - preg, degen joint disease, amyloid, hypothyroid, DM, use. Ulnar nn at elbow, peronial nn at knee, radial nn in upper arm. |
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Soft Tissue Tumors (General)
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Mesenchymal proliferation in extraskelatal, non epithelial tissues.
Assoc w/ radiation, HHV8/kaposi, genetics. ~ 40% legs, 20% arms, 10% H/N, 30% trunk/retroperitioneum. ~ increase w/ age. |
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Lipomas
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Benign fat tumors.
~ soft mobile, painless mass ~ subQ arms/legs/trunk adults. ~ well encapsulated. ~ variants - angiolipoma, spindle cell, myelolipoma, pleomorphic lipoma |
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Liposarcoma
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most common sarcoma of adults
~ 40-60y/o ~ deep soft tissue, proximal extremities/retroperitoneum. ~ CHOP/TLS fusion. t(12;16)(q13;p11) for myxoid/round cell type. MDM2 in well diff type. ~lipoblasts - mimic fetal fat cells, contain round clear vacuoles ~ well diff, low grade. Mysoid intermediate (thigh, aggressive metastasize). Pleomorphic- aggressive, extremities. |
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Nodular Faciitis
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Non neoplastic prolif. Most common reactive proliferation. Adults. Forearm, chest, back.
~ several wk hx of solitary rapid growth, can be painful. ~ 10-15% hx of trauma. ~ nodular, poorly defined in deep dermis/subQ/mm ~ ^ cellularit, plump imm. fibros, myfibros in myxoid ~ ^^ mitotic figures. |
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Myositis Ossificans
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metaplastic bone in subQ, mm of proximal extremities of athletic adolescents
~ early -painful swelling, then circumscribed/firm, late painles well demarcated mass. ~ histo - early (plump imm fibros) then zonation of central cells, osteoblasts an peripheral bone, eventually all ossified. ~ simple excision |
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Superficial Fibromatosis
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Plamar, plantar, penile fibromatoses.
~ nodular, poorly defined broad fasicles of mature fibroblasts surrounded by collagen. ~ Males ~ stabilize, resolve or recur |
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Deep Seated Fibromatosis (Desmoid tumors)
1. Extra abdominal 2. Abdominal 3. Intraabdominal |
Malignant/boderline firbosarcomas. Large infiltrative, recurring masses of bland fibroblasts.
~ teen - 30 ~ 1. M=F, mm of shoulder, chest, back, thigh. ~ 2. in F around pregnancy. musculoponeurotic ant. ab wall. ~ 3. mesntary/pelvic ab wall in pt w/ FAP, APC/ B catenin gene mut. ~ all - gray/white/firm poorly demarcated mass. rubbery tough. ~ plump fibroblasts in sweeping fasicles - infiltrate nearby tissue. Mitoses freq. ~ Tx local excision to cure. Tamoxifen. chemo. |
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Fibrosarcoma
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Unencapsulated, infiltrative soft, fish flesh mass w/ hemorrhage and necrosis.
~ in deep soft tissue of arm/leg ~ Spindle shaped cells in herringbone pattern ~aggressive, recur, >25% metast. |
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Malignant Fibrous Histiocytoma (MFH)
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Group of related soft tissue tumors w/
~ pleomorphism ~ bizarre multinuc cells ~ storiform ~ hemorrhage/necrosis |
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Rhabdomyosarcoma
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most common soft tissue sarcoma of childhood and adolescence.
~ most in head/neck, GU ~ t(2:13) (q35;14) PAX/FKHR fusion on 13 ~ embryonal (common) sarcoma boytryoides in naso/bladder/vag. big tumors in hollow organs ~ alveolar - adolescents. deep mm. of extremeties ~ pleomorphic, uncommon. adults. ~ Rhabdomyoblasts ~ desmin, MYOD1, myogenin ~ aggreasive, tx w/ surg, chemo. boytroid best prog. 65% cure in kids. |
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Leiomyosarcoma
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10-20%soft tissue tumors. Adults. F>M. Skin/SubQ tissue of extremities/retroperitoneum.
~ painless, firm mass. ~ atypical spindle cells. ~ cigar shaped nuclei. ~ IHC - Smooth mm actin and desmin ~ superfic. good prog. retroperitoneal - death |
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Synovial Sarcoma
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10% soft tissue tumors. 20-40yo. Large joints (knees, thigh).
~ deep seated mass of several years. ~ biphasic pattern. Epithelial like/spindle shaped cells ~ IHC - Keratin, epith membrane Ag ~ t(x;18) (p11;q11) -- SS18/SSX1, SSX2, SSX4 fusion genes!! ~ Tx. limb sparing therapy. ~ common metas to lung, skel, lymph. |
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CYTOGENICS
1. Vimentin 2. Actin/Desmin 3. SMA - 4. MYOD1 and myogenin 5. S100 6. CD1a 7.Cytokeratin 8. Factor VIII, CD31 |
1. all mesenchymal cells
2. Muscle 3. smooth muscle 4. skel mm. 5. neural, lipomatous, melanocytic LCH 6. langerhans histocytes 7. epithelial component of sarcomas 8. vascular. |
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Important mutations in soft tissue tumors
Synovial sarcoma Myxoid round cell sarcoma Ewing |
1. SYT - SSX fusion
2.– CHOP.TLS fusion 3. PNET FL11- EWS fusion. |
