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28 Cards in this Set

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(Bullous) Pemphigus - method of action
autoantibody attack against desmogleins (desmosomal membrane protein) (blistering disease)
(Bullous) Pemphigoid - method of action
auto-antibody attack on proteins of the basement membrane (hemidesmosomes) in the skin (blistering disease)
Pemphigus - symptoms
superficial blisters, intact basement membrane (epidermis dies)
Pemphigoid - symptoms
blisters with basement membrane separating (epidermis stays living)
- itchy, tense, fluid filled blisters
3 types of epidermolysis bullosa
group of inhereited disorders; easily form blisters following friction/ trauma
1) simple
2) junctional
3) dystrophic
Epidermolysis Bullosa Simplex - clinical features & defect
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)
Epidermolysis Bullosa Junctional - clinical features and defect
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 -)
Epidermolysis Bullosa Dystrophic - clinical features and defect
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)
Atopic Dermatitis
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
Irritant Dermatitis
skin comes into contact with substance that causes irritation or inflammation of the skin (occurs with anyone - NOT ALLERGY) ex: lye
Allergic Contact Dermatitis
rxn due to allergy (ex: latex)
Dermatitis (aka Eczema)
inflammation of the skin
Sclerosteosis
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
SSM: Superficial spreading melanoma
- most common of 4 forms of melanoma
- can occur at any site
- displays radial growth
- 60-70% of melanoma cases
Nodular Melanoma
- frequently ulcerated
- more likely in middle aged men
- can occur at any site
- no radial growth (grows deep)
Lentigo Maligna Melanoma (LMM)
- occurs in sun-exposed areas (esp. face)
- radial growth occurs for long period of time
Acral Lentiginous Melanoma
- predominantly on hands, feet, but also mouth and genitals
- most common melanoma in ppl with darker skin
- least common of 4 forms of melanoma
Osteosclerosis
disorder with increased osteoblastic bone formation
Progressive Diaphyseal Dysplasia (aka Camurati-Englemann)
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
Endosteal Hyperostosis
Cause: disinhibition of Wnt signaling pathway = overative TGF-beta

3 types: VanBuchem, sclerosteosis, and worth
VanBuchem (a form of endosteal hyperostosis)
characterized by assymetric jaw enlargement

- defective SOST = inhibition of Wnt results in net activation of B-cat (increasing osteoblastic activity)
Sclerosteosis (a form of endosteal hyperostosis)
characterized by jaw enlargement + tall, heavy, dutch lineage, syndactyly

- defective SOST = inhibition of Wnt results in net activation of B-cat (increasing osteoblastic activity)
Worth type (one of 3 forms of endosteal hyperostosis)
CAUSE: disinhibition of Wnt signaling via mutation in LRP5 (prevents Wnt binding)

Benign presentation, normal modeling, taras palatinus. No fractures.
Fibrodysplasia Ossificans Progressiva
cause: constitutive and excessive BMP (bone morphogenic protein) signalling = too much osteoblast activity

- progressive bone formation in soft tissues (muscle, tendon) - triggered by trauma.
Autosomal recessive infantile malignant osteopetrosis
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)
Autosomal dominant osteopetrosis type II (Albers-Schonberg)
CAUSE = heteroxygous for CICN7 inactivating mutation

SYMPTOMS: spine sclerosis (rugger jersey appearance), fractures, dental problems, variable penetrance
Pycnodysostosis
CAUSE = rare, CTSK mutation decreasing cathespin K.

SYMPTOMS = short, disproportionate, facial dysmorphism, large cranium, recurrent lower limb fractures
Carbonic Anhydrase II Deficiency
CAUSE = mutation in carbonic anhydrase II (creates H+ used in bone breakdown)

SYMPTOMS: renal tubular acidosis, hypotonia, weakness, usually mental subnormality.