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28 Cards in this Set
- Front
- Back
(Bullous) Pemphigus - method of action
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autoantibody attack against desmogleins (desmosomal membrane protein) (blistering disease)
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(Bullous) Pemphigoid - method of action
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auto-antibody attack on proteins of the basement membrane (hemidesmosomes) in the skin (blistering disease)
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Pemphigus - symptoms
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superficial blisters, intact basement membrane (epidermis dies)
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Pemphigoid - symptoms
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blisters with basement membrane separating (epidermis stays living)
- itchy, tense, fluid filled blisters |
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3 types of epidermolysis bullosa
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group of inhereited disorders; easily form blisters following friction/ trauma
1) simple 2) junctional 3) dystrophic |
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Epidermolysis Bullosa Simplex - clinical features & defect
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clinical features: non-scarring, superficial blisters that affect the hands, feet and extremities (spares mucosa)
defect: keratin 5 and 14 (cause intra-epidermal blister @ basal layer of epidermis) |
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Epidermolysis Bullosa Junctional - clinical features and defect
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clinical features: generalized epithelial blistering (including mucosa of GI, GU, respirator). show nail shedding and dystrophy. Most severe of the 3 (<1 yr prognosis)
defect: affects lamina lucida (between basal keratinocytes and lamina densa of basement membrane -) |
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Epidermolysis Bullosa Dystrophic - clinical features and defect
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clinical features: deepest of the 3 EB diseases, deep blisters that form milia (keratin filled cysts) and SCARS. mitten deformities, mucosa affected, absent or dystrophic nails, (20-40 years expectancy - die of SCC due to chronic inflammation)
defect: type VII collagen (cleaves sub-lamina densa layer) |
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Atopic Dermatitis
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common, chronic, itcy (pruritis), waxes and wanes, dryness (xerosis)
- largely a disease of childhood - assoc. with progression to asthma --> sinus problems (atopic march) - increasingly prevalent in developed countries |
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Irritant Dermatitis
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skin comes into contact with substance that causes irritation or inflammation of the skin (occurs with anyone - NOT ALLERGY) ex: lye
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Allergic Contact Dermatitis
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rxn due to allergy (ex: latex)
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Dermatitis (aka Eczema)
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inflammation of the skin
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Sclerosteosis
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rare disorder - overgrowth of bone
presents with: tall stature, facial distortion, CN entrapment MECHANISM: loss of sclerostin (SOST) gene resulting in increased bone formation activity without increased resorption |
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SSM: Superficial spreading melanoma
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- most common of 4 forms of melanoma
- can occur at any site - displays radial growth - 60-70% of melanoma cases |
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Nodular Melanoma
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- frequently ulcerated
- more likely in middle aged men - can occur at any site - no radial growth (grows deep) |
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Lentigo Maligna Melanoma (LMM)
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- occurs in sun-exposed areas (esp. face)
- radial growth occurs for long period of time |
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Acral Lentiginous Melanoma
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- predominantly on hands, feet, but also mouth and genitals
- most common melanoma in ppl with darker skin - least common of 4 forms of melanoma |
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Osteosclerosis
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disorder with increased osteoblastic bone formation
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Progressive Diaphyseal Dysplasia (aka Camurati-Englemann)
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Cause: mutation in TGF-Beta sequestering protein = upregulation of TGF-Beta
Symptoms: gradual appearance of symmetric hyperostosis on perosteal and endosteal surfaces of long bones severity = variable |
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Endosteal Hyperostosis
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Cause: disinhibition of Wnt signaling pathway = overative TGF-beta
3 types: VanBuchem, sclerosteosis, and worth |
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VanBuchem (a form of endosteal hyperostosis)
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characterized by assymetric jaw enlargement
- defective SOST = inhibition of Wnt results in net activation of B-cat (increasing osteoblastic activity) |
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Sclerosteosis (a form of endosteal hyperostosis)
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characterized by jaw enlargement + tall, heavy, dutch lineage, syndactyly
- defective SOST = inhibition of Wnt results in net activation of B-cat (increasing osteoblastic activity) |
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Worth type (one of 3 forms of endosteal hyperostosis)
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CAUSE: disinhibition of Wnt signaling via mutation in LRP5 (prevents Wnt binding)
Benign presentation, normal modeling, taras palatinus. No fractures. |
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Fibrodysplasia Ossificans Progressiva
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cause: constitutive and excessive BMP (bone morphogenic protein) signalling = too much osteoblast activity
- progressive bone formation in soft tissues (muscle, tendon) - triggered by trauma. |
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Autosomal recessive infantile malignant osteopetrosis
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CAUSE = 2 subtypes resulting in mutant osteoclasts (too little resorption. Mutation in CICN7/TCIRG = normal OC #, defective fxn. Mutation in RANKL = decreased OC #)
Symptoms: bone overgrowth, squeezes out bone marrow = increased bleeding, hypersplenism in children, anemia, low platelets. (most severe osteopetrosis dz) |
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Autosomal dominant osteopetrosis type II (Albers-Schonberg)
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CAUSE = heteroxygous for CICN7 inactivating mutation
SYMPTOMS: spine sclerosis (rugger jersey appearance), fractures, dental problems, variable penetrance |
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Pycnodysostosis
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CAUSE = rare, CTSK mutation decreasing cathespin K.
SYMPTOMS = short, disproportionate, facial dysmorphism, large cranium, recurrent lower limb fractures |
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Carbonic Anhydrase II Deficiency
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CAUSE = mutation in carbonic anhydrase II (creates H+ used in bone breakdown)
SYMPTOMS: renal tubular acidosis, hypotonia, weakness, usually mental subnormality. |