Pathology MEGA DECK Flashcards
Developmental dysplasia of the hip is cause by?
patients who are born with dislocation or instability of the hip, which may then result in hip dysplasia
What are the symptoms of developmental dysplasia of the hip?
most commonly first born female, breech, left hip
LCP (avascular necrosis) disease is caused by?
result of damage to blood supply to femoral head ossific nodules; unknown etiology
LCP: Legg-Calve-Perthes
What is the cause and symptoms of Slipped Capital Femoral Epiphysis?
acute trauma or repetitive microtrauma, kids 10-17y mechanical effect due to obesity, increased shear forces on physis, may result in coxa vara, hip discomfort referred to knee (obturator nerve), externally rotated gait with limp, leg length discrepancy, limited flexion
What is the causes and symptom of Winged scapula?
damage to long thoracic nerve causes paralysis of serratus anterior muscle medial border and inferior angle of scapula pulled away from posterior thoracic wall when arm is raised or pushing against object. Arm cannot abduct above horizontal position.
What is the cause and symptoms of Erb’s Palsy?
excessive separation of head and neck; such as falling with shoulder on ground or excessive stretching during baby delivery waiter’s tip appearance - injured limb hangs by side in medial rotation; loss of sensation on lateral aspect of upper limb, deltoid, biceps, brachialis, and brachioradialis paralysis
What is the cause and symptoms of backpackers palsy?
micro injury of superior trunk of BP due to carrying heavy backpack sensory deficits in distribution of musculocutaneus and radial nerves, muscle spasms
What are the symptoms and cause of Ulnar nerve injury?
direct hit against hard object or fracture of medial epicondyle, tendinous cubital tunnel, wrist, or hand numbness/tingling at medial palm and digits 4-5, clawhand (loss of Z movement), lean to radial side when flexing the wrist
What are the symptoms and cause of Cubital tunnel syndrome?
ulnar nerve is compressed by flexor carpi ulnaris at its proximal attachment same as ulnar nerve injury
What are the symptoms and cause of rupture of the long head of biceps?
wear and tear of an inflamed tendon, forceful flexion of the arm Popeye deformity; detached muscle belly forms a ball near the center of the distal part of the anterior aspect of the arm
What are the symptoms and cause of pronator syndrome?
median nerve in jury due to compression between heads of pronator teres muscle pain and tenderness in proximal anterior forearm
Median nerve injury has what characteristic sign?
Hand of Benediction / Pope’s Hand flexion of 2-3 lost at MCP joint; flexion of digits 1-3 are lost, 4-5 are weakened at PIP joint; flexion of digits 2-3 are lost, 4-5 not affected at DIP joint
What are the symptoms and cause of elbow tendonitis?
caused by repetitive forceful flexion/extension of the wrist, inflammation of the periosteum of the lateral epicondyle where the superficial extensors form a common tendon to attach pain at lateral epicondyle, radiates down posterior forearm, can be felt at rest or when opening a door/lifting a glass
What are the symptoms and cause of mallet/baseball finger?
caused by sudden forceful extension of a long extensor tendon such as a finger jammed into a base pad DIP cannot extend and is pulled in flexion by flexor tendons
What are the characteristics of a synovial cyst of the wrist?
painful, most common on dorsum of the wrist about the size of a small grape, contain clear mucinous fluid, may communicate with synovial sheaths if on palmar hand may cause median nerve compression
What are the symptoms of radial nerve injury?
Arm - wrist drop deep branch - Inability to extend thumb/MCPs Superficial branch - coin shaped area of numbness in dorsal hand
What are the cause and symptoms of Dupuytren’s Contracture of Palmar Fascia?
progressive shortening, thickening and fibrosis of palmar fascia and aponeurosis, hereditary? Usually bilateral, males 50+ 4th/5th fingers are pulled into partial flexion at MCP and PIP, painless nodular thickenings on palmar aponeurosis, develops into contracting longitudinal bands in the palm
What are the cause and symptoms of Tenosynovitis?
infection of the synovial sheath caused by injury to palm swelling/painful digits, infection can spread to palm, carpal tunnel and forearm, if digital synovial sheath ruptures can spread into midpalmar space
What are the cause and symptoms of De Quervains’s Tenovaginitis Stenosans?
excessive friction of APL and EPB causes fibrous thickening of synovial sheath pain in wrist, radiates into forearm and thumb hold thumb inside other four fingers and adduct (ulnar deviate) wrist joint - painful
What are the cause and symptoms of Digital Tenovaginitis Stenosans (Trigger Finger)?
repetitive forceful use of fingers causes thickening of fibrous digital sheath, FDS/FDP may enlarge finger cannot extend, passive extension of finger results in snapping sound
What are the cause and symptoms of AC Joint Dislocation?
direct impact to shoulder or outstretched arm, often called shoulder separation tear of coracoclavicular lig results in downward separation of upper limb from clavicle, acromion is more prominent, fibrous capsule of AC joint also torn
What are the cause and symptoms of Calcific Supraspinatus Tendonitis (Painful Arc Syndrome)?
inflammation and calcification of the supraspinatus tendon, inflammation of subacromial bursa affects people 50+ years, pain in should with 5-130 degrees of abduction
What are the cause and symptoms of Adhesive Capsulitis of Glenohumeral Joint (Frozen Shoulder)?
fibrosis/scarring in articular capsule due to injuries such as calcific supraspinatus tendonitis, partial rotator cuff tear or bicipital tendonitis difficult abducting arm
What are the cause and symptoms of Dislocation of Radial Head (Pulled Elbow)?
sudden lifting of child’s body by pulling arm, head of radius is pulled out of anular ligament, may be torn common in preschool children, immobile arm and protective position (pain)
What are the cause and symptoms of a Hip pointer?
contusion of the iliac crest, usually at anterior part may also refer to avulsions of muscles at their bony attachment sites
What are the cause and symptoms of a charley horse?
painful contusion of quadriceps muscle due to direct trauma may form hematoma, pain and muscle stiffness
What are the cause and symptoms of a Psoas abscess?
retroperitoneal pyogenic infection from vertebral column TB or enteritis, may flow along muscle to inguinal region edema in inguinal region
What are the cause and symptoms of a femoral hernia?
more common in females, intestine passes through femoral canal below inguinal ligament soft under skin, never enters scrotum, can be strangulated
What are the cause and symptoms of varicose veins?
one-way valves that prevent blood from moving backward from deep veins into superficial veins fail blackflow pressure leads to swollen cutaneous veins
What is the cause and symptoms of Muscle Compartment syndrome?
increased bulk in athletes cannot be accommodated within confined fascial compartment internal pressure leads to inflammation, loss of innervation, edema and atrophy of muscles; tenderness of proximal skin overlying anterior compartment as well as deep pain Also affects tibialis posterior
What are the cause and symptoms of Osgood-Schlatter’s Disease?
exertion of quadriceps muscles by athletes places strain on tibial tuberosity extreme pain, swelling, damage to epiphysial growth plate
What are the cause and symptoms of common fibular nerve injury?
severe crushing or cutting results in loss of motor control to anterior and lateral compartment musculature high-stepping stride on affected side (drop foot gait)
What are the symptoms and cause of Housemaid’s/ Surfer’s Knee?
form of bursitis, inflammation of superficial and subcutaneous infrapatellar bursae due to excessive pressure/friction on patella/tibial tuberosity
What are the symptoms and causes of Flat foot/fallen arches?
collapse of medial longitudinal arch due to collapse of spring ligament caused by continuous stress (standing all day); pain, pathological gait
What are the symptoms and causes of plantar fasitis?
continuous stress of plantar fascia by running/jumping inflammation, pain, swelling
What are the symptoms and causes of a back sprain?
damage to back ligaments which connect vertebrae less common, back pain leads to tonic muscle contraction to guard and protect back from excessive movement
What are the symptoms and causes of a back strain?
muscular problem, due to microscopic tears to muscle fibers due to overuse; weekend warrior back pain leads to tonic muscle contraction to guard and protect back from excessive movement
What are the characteristics of a L3/L4 disk herniation?
pain over posterolateral thigh, anterior leg, anteromedial thigh and knee numbness, quad weakness/atrophy, knee jerk diminished
What are the characteristics of L4/L5 disk herniation?
L4/L5 (lateral thigh and leg, lateral leg/great toe numbness, weak dorsiflexion)
What are the characteristics of L5/S1 disk herniation?
pain in posterolateral thigh and leg to heel, back of calf and lateral foot numbness, weak plantarflexion, gastrocnemius atrophy, diminished ankle jerk
What are the characteristics of a C6/C7 disk herniation?
pain/numbness over posterior arm down middle finger, weakness in elbow extension/wrist flexion, triceps atrophy, triceps reflex diminished
What are the cause and symptoms of clavicular fracture?
indirect forces transmitted through bones of the arm/forearm or falls directly onto the shoulder most often weakest part of clavicle (middle 1/3); medial fragment elevates (sternocleidomastoid), lateral fragment depresses, shoulder drops, clavicle appears shortened, sagging limb often supported by other limb
What are the cause and symptoms of a fracture of the surgical neck of the humerus?
fall on outstretched hand; common in elderly; causes axillary nerve damage stable due to ligaments surrounding region, can still move arm passively with little pain
What are the cause and symptoms of a Avulsion of Greater Tubercle of Humerus?
fall on shoulder or hand; common in middle aged and elderly proximal end is pulled superior-posterior-laterally (supraspinatus/infraspinatus muscles) and distal end is pulled and rotated medially (subscapularis muscle)
What are the symptoms and cause of a midhumeral fracture?
direct blow to arm; causes radial nerve damage proximal end pulled laterally (deltoid musc), distal end pulled upward by biceps, arm is shortened and fractured ends overlap
What are the causes and symptoms of a Colle’s Fracture?
landing on outstretched upper limb when trying to ease a fall, forearm/hand pronated; most common fx of forearm
complete transverse fracture within distal 2cm of radius; radial styloid process is moved proximally; distal fragment is displaced dorsally and proximally (dinner fork)
What are the cause and symptoms of a Scaphoid fracuter?
fall onto palm when hand is abducted; most common fx of wrist
pain on lateral side of wrist, worse when dorsiflex, pain with pressure on anatomical snuff box; poor blood supply to proximal scaphoid causes slow bone union/avascular necrosis of proximal fragment
What are the symptoms and cause of a boxer’s fracture?
punching someone with a fist
4th and 5th metacarpals most vulnerable
What are the cause and symptoms of a fracture of the femur?
neck most frequently fractured, common in older people, caused by indirect forces and trivial mishaps
instability, thin periosteum, injury of retinacular arteries, causes bleeding and femoral head necrosis
What are the cause and symptoms of a Tibia fracture?
direct force (boot-top/bumper fracture) at its middle to distal 1/3 junction
easily becomes a compound fracture
What are the cause and symptoms of a stress fracture?
caused by change in frequency, intensity, duration of activity
common in pubic ramus, rib, metatarsal, tibia, femur; present with insidious onset of pain that is aggravated by activity
What are the symptoms and cause of a Pott’s Fracture?
distal fibula snaps a few cm above inferior tibiofibular joint
common in athletes, medial malleolus can be avulsed
What are the cause and symptoms of Compression fractures?
collapse of vertebral body; common in post-menopausal elderly women, cancers and osteoporosist
rapping of spinal nerves as they pass out of intervertebral foramen, leading to pain or loss of function
What are the symptoms and cause of Spondolysis?
defect in pars interarticularis btw superior and inferior facets
bone breaks most common at L5, inferior facets, can lead to instability, may be unilateral or bilateral
What are the symptoms and cause of spondylolisthesis?
slipping of vertebra in relation to the adjacent inferior vertebra or sacrum
caused by spondylolysis of L5 vertebra allowing vertebral column to slide forward on top of sacrum, compression of sacral spinal nerves, and leg pain
What is the mechanism and symptoms of achondroplasia?
impaired cartilage proliferation in growth plate due to activating mutation in FGFR3 gene; causes defect in paracrine cell signaling and decreased proliferation of chondrocytes
autosomal dominant, 1/15,000 children, most common bone dysplasia
dwarfism, short bowed limbs with preservation of trunk length, clinodactyly, facial abnormalities, hypophosphatemia
What is the mechanism and symptoms of osteogenesis imperfecta?
defect in bone resorption due to mutation in COL1A1 gene causes decreased type 1 collagen
bone fragility, hearing loss, blue sclera, dentinogenesis imperfecta
Can be mistaken for child abuse
What are the symptoms and causes of Scurvy?
vitamin C deficiency, inability to hydroxylated collagen chains causes impaired type 1 collagen and weakened connective tissue
blackened skin, ulcerations, difficulty breathing, tooth loss, rotten gum tissue
No Vitamin C deficiancy
What are the causes and symptoms of osteopetrosis?
defect in bone resorption due to carbonic anhydrase II deficiency, very thick and brittle bone, poor osteoclast function
anemia, pancytopenia, hepatosplenomegaly, hydrocephalus, intercurrent infections, repeated bone fractures, renal tubular acidosis
What are the cause and symptoms of hypocalcemia?
caused by hypoparathyroidism (post-op), malabsorption, medications, citrate (transfusions), renal failure
tetany, Trousseau sign, cramps, seizure, mental status changes, tingling of hands and feet, prolonged QT interval
What are the symptoms and hypercalcemia?
stones, bones groans, psychiatric overtones
What are the causes and symptoms of Osteoperosis?
reduced bone mass due to decreased bone formation or increased bone resorption
painless; can cause vertebral, hip, wrist, or other fractures
Caused by: deficient vit D receptor, COL1A1, estrogen receptor, ILG1-R; low physical activity, low muscle strength, diet or hormonal state; long term corticosteroid use
What are the causes and symptoms of Paget Disease?
gain in bone mass due to 1) osteoclastic bone resorption 2) hectic bone formation 3) osteoclastic quiescence; results in thick, sclerotic bone that fractures easily
asymptomatic, enlarging hat size, bowing of long bones, elevated alk phos, microfractures (bone pain), nerve compression, hearing loss
can lead to Osteosarcoma, high-output cardiac failure
What are the symptoms and cause of Rickets?
defective mineralization of osteoid due to vitamin D deficiency causes impaired absorption of Ca and PO4, excess of unmineralized matrix, enlarged hypertrophic zone
children < 1 year
pigeon-breast deformity, frontal bossing, rachitic rosary, bone bending, enlarged growth plates
What are the symptoms and causes of Osteomalacia?
defective mineralization of osteoid due to vitamin D deficiency causes impaired absorption of Ca and PO4, defective remodeling
bone pain/tenderness, muscle weakness, difficulty walking/waddling gait, increased risk for fracture
What are the symptoms and cause of Osteomyelitis?
infection of marrow and bone by pyogenic bacteria (Staph aureus, Salmonella for SCD, Gonorrhea in young adults) caused by surgical implant or compound fx
kids
most commonly at metaphysis; fever, chills, leukocytosis, pain, elevated ESR, pus in marrow cavity
What are the symptoms and causes of TB Osteomyelitis?
infection travels from lung to rib, pus in marrow, dead bone fragments (sequestrum), woven bone (involucrum)
Pott’s disease: spine; infection breaks through intervertebral discs to involve multiple vertebrae
What are the causes and symptoms of Osteoarthritis?
progressive erosion of articular (synovial) cartilage, noninflammatory; synovial fluid enters bone (subchondral cyst), cartilage is worn away, bony outgrowths (osteophytes), eburnated articular surface
most common arthritis, 60+ adults, F>Mpain,
stiffness, slight swelling, crepitus, aggravated by activity, limitation of range of movement, impingement on spinal foramina by osteophytes, Heberden (DIP) and Bouchard’s (PIP) nodes
What are the causes and symptoms of Patellofemoral Malalignment?
abnormal joint mechanics, cartilage, retinaculum or subchondral bone injury leads to degeneration
instability, anterior knee pain with prolonged sitting or stairs, “giving way”
What are the symptoms and cause of Rheumatoid Arthritis?
activation of CD4+ helper T cells causes release of IL-1 and TNF, destruction of articular cartilage and ankylosis of joints, autoimmune
synovitis leads to pannus formation, malaise, fatigue, pain, small joints (MCP/PIP) affected first, warm and painful, stiff in the morning and after inactivity, Rheumatoid nodules, radial deviation of wrist, ulnar deviation of fingers, swan neck/boutonnieres deformities
What are the symptoms and cause of Toxic Synovitis?
arthralgia and arthritis secondary to a transient inflammation of the synovium of the hip; usually lasts 5-10 days
walks with limp, afebrile
What are the symptoms and causes of Infectious/Septic Arthritis?
bacterial infection of the joint by H. influenzae (kids <2), Staph aureus (older kids, adults), N. gonorrhoeae (late teens/young adult), Salmonella (SCD)
knee is most common joint
sudden development of painful, hot swollen joint (usually knee) with limited range of motion, fever, leukocytosis
CBC, positive gram stain and culture
What are the symptoms and causes of Gout?
crystallization of urates within joints due to hyperuricemia, form of inflammatory arthritis
transient attacks of acute arthritis, tophus (subcutaneous collections of crystals), generally affects great toe, can lead to renal failure
What are the symptoms and causes of Pseudogout?
mutation in ANKH gene which encodes transmembrane inorganic pyrophosphate transport channel; leads to deposition of calcium pyrophosphate dihydrate (CPPD) crystals
crystals develop in articular cartilage (menisci and intervertebral discs), then in tendons, ligaments
What are the causes and symptoms of Ankylosing Spondylitis?
form of arthritis where chronic inflammation causes bridging of one or more intervertebral discs, associated with HLA-B27
sacroiliitis, synovitis and enthesitis, vertebrae ossify and fuse, causing back pain and progressive stiffness (bamboo spine)
What are the causes and symptoms of reactive arthritis?
inflammatory arthropathy following GI or GU infection due to Chlamydia, Salmonella, Shigella, Yersinia and Campylobacter
Reiter’s syndrome (uveitis, urethritis, arthritis)
What are the causes and symptoms of SLE?
autoimmune disease, DsDNA Ab and Smith Ab
4 of the following: SOAP BRAIN MD (serositis, oral ulcers, arthritis, photosensitivity/pulmonary fibrosis, blood cells, renal, Raynauds, ANA, immunologic, neuropsych, malar rash, discoid rash)
What are the symptoms and causes of McCune-Albright Syndrome?
polyostotic fibrous dysplasia caused by mutation in gene that codes for G protein –> constitutive activation of adenylyl cyclase, leading to excess cAMP and hyperfunction of cells
café au lait skin pigmentations and endocrine abnormalities such as precocious puberty, hyperthyroidism, pituitary adenomas, primary adrenal hyperplasia
What are the symptoms and causes of Osteochondroma?
benign cartilage-capped outgrowth that is attached to the skeleton by a bony stalk, EXT gene in growth plate chondrocytes
arises in metaphysis, dense cauliflower-like lesions
What are the symptoms and causes of Endochondroma?
manifests at metaphyseal region
usually solitary (multiple = Ollier’s disease), most common sites are hands/feet
Maffucci syndrome: enchondromatosis and soft tissue hemangiomas; small risk of malignant transformation
What are the symptoms and causes of Chondrosarcoma?
malignant hyaline and myxoid cartilage
40+ years
affects central skeleton (pelvis, shoulder, ribs)
What are the symptoms and causes of Osteoid Osteoma?
benign tumor of osteoblasts surrounded by rim of reactive bone, <2cm, excess PGE2 produced by proliferating osteoblasts
affects cortex of long bones (femur, tibia); typically in diaphysis; bone pain resolves with aspirin
What are the cause and symptoms of Osteosarcoma?
mutations in p53 and RB genes causes malignant proliferation of osteoblasts at metaphysis
pathologic fracture or bone pain with swelling
Xray: destructive mass with sunburst appearance, lifting of periosteum; histo: pleomorphic cells that produce osteoid
What are the symptoms and causes of Giant cell tumor of the bone?
benign but aggressive tumor typically found in epiphyseal region
most around knee, tumor is red-brown with cystic degeneration, necrosis, hemorrhage, hemosiderin deposition, reactive bone formation
What are the symptoms and causes of Ewing Sarcoma?
EWS-FLI1 (11,22) fusion gene, malignant proliferation of poorly-differentiated cells derived from neuroectoderm in diaphysis of long bones
pain, fever, leukocytosis, long bones
Xray: onion-skin appearance; Histo: small round blue cell tumor that resemble lymphocytes
What are the symptoms and causes of Multiple Myeloma?
Excess IgGk
bone pain due to punched out lytic lesions in ribs, vertebrae, skull, pelvis
Histo: Rouleaux formation
What are the symptoms of Metastatic Carcinoma?
tumor cells up-regulate osteoclasts through RANKL, which recruits and activates osteoclasts to degrade bone, producing pockets for bone tumor cells to grow
most commonly from breast (also produces PTHrP), lunch, thyroid, kidney, prostate
hypercalcemia of malignancy
What are the symptoms and causes of Osteitis Fibrosa Cystica?
increased osteoclastic bone resorption, can be caused by renal osteodystrophy which causes secondary hyperparathyroidism
loss of bone mass, weakening of bones, formation of cyst-like brown tumors in/around bone
What are the symptom and cause of radial neuropathy?
aka Saturday Night Palsy, pressure on radial nerve, which causes damage
most likely neuropraxic, numbness/weakness in one arm affecting wrist extension and finger flexion
What are the symptoms and causes of Superficial Radial Neuropathy?
aka Handcuff Neuropathy, pressure on radial nerve over extensor tendon of thumb
most likely neuropraxic, burning numbness of triangular space between 1st and 2nd fingers on one hand
What are the symptoms and causes of Carpal tunnel syndrome?
entrapment neuropathy of median nerve due to lesions of the tendons/synovial sheath within the tunnel
numbness/weakness of first 3.5 digits, mild thumb abductor weakness, thenar muscle weakness/atrophy
What are the symptoms and causes of C6 Radiculopathy?
most common cause is herniated disc, narrowed anatomical compartment is vertebral foramen
numbness/weakness in first 2 digits, biceps, triceps and flexor carpi radialis; six-shooter pattern of weakness
What are the symptoms and causes of Common Fibular Neuropathy?
pressure on common fibular nerve
numbness/weakness on top of foot, ankle dorsiflexion/eversion, extensors
What are the symptoms and causes of Meralgia Paresthetica?
compression of lateral femoral cutaneous nerve beneath inguinal ligament
burning of lateral thigh, decreased sensation to cold, no weakness
What are the symptoms and causes of Lumbar Radiculopathy?
annular degeneration leads to fissuring or tearing of annulus which leads to disc rupture
increased pain with forward flexion, sitting, driving in car, cough/sneeze/BM; decreased pain with lying supine, knees flexed, standing
What are the symptoms and causes of Lumbar Spinal Stenosis?
reduction in central or lateral spinal canal by bony structures (osteophytes, spurs, spondylolisthesis) or soft tissue structures (herniation, hypertrophy of ligamentum flavum, synovial cysts)
low back pain, pseudoclaudication, unilateral leg pain, weakness, referred pain, shopping cart sign, increased pain with downhill walking
What are the symptoms and causes of S1 Radiculopathy?
compression of S1 due to arthritis or herniated disc
back pain radiating down leg to lateral malleolus, decreased sensation over PSIS and lateral leg, plantar flexion weakness
What are the symptoms and causes of Cauda Equina Syndrome?
damage to the cauda equina causes acute loss of function of the lumbar plexus below the termination (conus medullaris) of the spinal cord
saddle anesthesia, decreased reflexes, bladder retention, lax anal sphincter, foot drop
What are the symptoms and mechanism of Nevus?
Junctional: epidermis, forms nests of melanocytes in the rete ridges, flat mole, fade with age, reticular pigment Dermal: melanocytes in dermis only, exophytic mole, globularpigment Compound: dermis + epidermis, raised mole
mole, benign neoplasm of melanocytes
What are the symptoms and mechanisms of Melanoma?
malignant neoplasm of melanocytes characterized by two growth phases, (1) radial growth horizontally along epidermis/dermis and (2) vertical growth into deep dermis
Asymmetry, Border Irregularity, Color Variation, Diameter >5mm, Evolving
Dermoscopy: fuzzy borders, blue and grey patches; Breslow thickness to predict metastases
What are the symptoms and mechanisms of SOlar Lentigo?
liver spots, tumor of pigmented keratinocytes
found on face/hands of fair skin due to sun damage
older adults
What are the symptoms and mechanisms of Seborrheic Keratosis?
benign squamous proliferation, comprised of basaloid and squamoid keratinocytes
warty surface, stuck on plaques, on hair-bearing skin
Leser-Trelat sign: sudden onset of multiple seborrheic keratoses –> GI carcinoma
What are the symptoms and causes of Actinic Keratosis?
precursor lesion of squamous cell carcinoma
red scaly papule, sandpaper feel due to sun, found on fair skin on face, back or neck
What are the symptoms and causes of Squamous Cell Carcinoma?
malignant proliferation of squamous cells arising on sun damaged skin
can occur anywhere on skin, firm flesh colored to reddish growth with indistinct border, scaly surface or ulceration, often on lower lip
KERATIN PEARLS
What are the symptoms and causes of Keratoacanthoma?
well-differentiated SCC originating from pilosebaceous glands
cup-shaped tumor filled with keratin debris, , develops rapidly and regresses spontaneously
What are the symptoms and causes of Basal Cell Carcinoma?
malignant proliferation of basal cells of epidermis
elevated nodule with central, ulcerated crater surrounded by dilated vessels (telangiectasia); pink pearlescent papule, often on upper lip
Risk factors: UVB-induced DNA damage, prolonged exposure to sunlight, albinism, XP
What are the characteristics of an epidermoid cyst?
occluded hair follicles fill with loose keratin, aka epidermal inclusion or sebaceous cyst
What are the characteristics of a pilar cyst?
often on scalp, but can be found on any hair-bearing skin
histo: dense pink compact keratin with no granular layer
What are the characteristics of Mycosis Fungoides?
cutaneous T-cell lymphoma caused by malignant CD4+ Th cells
favors sun-protected areas, 5cm+ patches/thin plaques, erythroderma/tumors = more severe
What are the characteristics of Mastocytosis?
localized mast cell collection, aka urticaria pigmentosa
brown oval plaque, Darier sign: scratching lesion forms hive
What are the characteristics of a Skin Tag?
pedunculated papilloma
histo: outer keratinizing squamous epithelium, inner fibrovascular core; no adnexa
What are the characteristics of a Dermatofibroma?
red-brown firm nodule, dimple sign, lower extremities (itchy)
histo: hemosiderin deposits, CD34-, spindle cell proliferation
What are the characteristics of Dermatofibrosarcoma Protuberans?
locally aggressive, bulky irregular tumor
middle-aged adults
histo: swiss cheese growth pattern, CD34+
What are the characteristics of Ichthyosis Vulagaris
deficiency in profillagrin causes abnormal retention of corneocytes
fine scales, lower extremities, itchy
histo: diminished granular layer
What are the characteristics of Oculocutaneous Albinism?
defect in tyrosinase which is important in forming melanin pigment
diffuse hypopigmentation, eye problems
histo: melanocytes and keratinocytes without melanin
What are the characteristics of Allergic Contact Eczema (dermatitis)?
caused by exposure to potent external allergen such as poison ivy, nickel, balsam of peru, neomycin, irritant chemicals
pruritic, erythematous, oozing rash with vesicles and edema; typically localized to the point of contact
What are the characteristics of Atopic Eczema (dermatitis)?
caused by both allergic reaction and auto-antigens
pruritic, erythematous, oozing rash with vesicles and edema; often involves face and flexor surfaces
type 1 hypersensitivity, associated with asthma and allergic rhinitis
What are the characteristics of Lichen Planus?
exposure to hep C virus, medication, contact allergen leads to altered self-antigens on basal keratinocytes; T-cells induce death via apoptosis
pruritic, purple, polygonal papules, Wickham striae (oral involvement), symmetric distribution, extremities, mucosa
What are the characteristics of Bullous Pemphigoid?
IgG Ab against BM of collagen causes destruction of hemidesmosomes between basal cells and underlying BM
subepidermal blisters of skin, oral mucosa spared; tense bullae do not rupture easily
What are the characteristics of Pemphigus Vulgaris?
IgG Ab against desmoglein causes destruction of desmosomes between keratinocytes
upper trunk, painful skin and oral mucosa bullae, thin-walled bullae rupture easily (Nikolsky sign)
histo: row of tombstones, suprabasilar blister, immunofluorescence - IgG surrounding keratinocytes in “fish net” pattern
Type 2 hypersensitivity
What are the characteristics of Dermatitis Herpetiformis?
autoimmune deposition of IgA at tips of dermal papillae, form anti-gliadin Abs when gluten is consumed
pruritic papules on knees, elbows, lower back, scalp
strong association with celiac disease
What are the characteristics of Verruca Vulgaris?
caused by physical transmission of HPV 1,2,4 at sites of abrasion
warty, keratotic papules with rough grayish surface, common on hands/feet
histo: hyperkeratosis, thick granular layer, papillary hyperplasia, koilocytes
L2 is used for?
Hip flexors
L3 is used for??
Knee extension
L4 is used for?
Dorsiflexion of the foot
L5 is used for?
Extensor Hallicus Longus
S1 is used for?
Plantar flexion
What are the characteristics of Pityriasis Rosea?
might be caused by viral infection
young adults
occurs in spring fall, christmas tree pattern, starts hearld plaque with trailing scale then many lesions
histo; mound of parakeratin
What are the characteristics of impetigo?
superficial bacterial skin infection caused by Staph aureus
kids/young adults
erythematous macules that progress to pustules on face/extremities, results in erosions with honey-colored crusts
histo: staph bacterial colonies, neutrophils
What are the characteristics of Tinea (ringworm)?
caused by Trichophyton rubrum infection
annular plaques with central clearing and scaly erythematous borders, transmission by direct contact
histo: fungal hyphae with PAS, neutrophils in pustule
What are the characteristics of Scabies?
caused by Sarcoptes scabei (usually less than 100 organisms)
children, young adults
direct transmission, pruritic papules in fingers, webs, axillae, umbilicus, areolas, genitalia, itching is worse at night
histo: spongiosus, crusts, inflammation with eosinophils; KOH prep
Psoriasis
excessive keratinocyte proliferation due to genetic predisposition and external trigger, possibly autoimmune, associated with HLA-C
4% population, bimodal onset: adolescence/older adults
salmon-colored plaques with silver scale on scalp, elbows, knees, sacrum; pitting of the nails
histo: acanthosis, parakeratosis, munro’s microabcesses (neutrophils in the horn), Auspitz sign (longer rete ridges makes epithelial arcs look thinner)
Diet, stop smoking, reduce stress, PUVA; Itchy: oral Abx, bleach/vinegar bath; Topical: ointment (taper steroids!), moisturizers, vitamin D, Retinoid for nails, Ketoconazole for scalp; Oral: corticosteroids, cyclosporine, methotrexate and biologics
Acne Vulgaris
abnormal retention of follicular squames and sebum with infection by Propionibacterium acnes, causing chronic inflammation
85% young adults
face/back/chest, papules/pustules/comedones, worse with stress
histo: superficial suppurative folliculitis, perifollicular abscess
Rosacea
abnormally pronounced vasodilation to a variety of stimuli
5-10%, fair skinned adults
facial erythema, telangiectasias, WC Fields rhinophyma, exaggerated blushing, papules, skin thickening
histo: perifollicular and perivascular inflammation
Urticaria
mast cells release histamine, causing vasodilation and plasma exudation, transient skin swelling due to infection, drug, physical trauma, or autoimmune disease
1-5%
wheals, individual lesion < 24 hours duration
histo: dilated lymphatic, perivascular invasion
Erythema Multiforme
secondary to HSV infection, mycoplasma or drugs
young adults
target lesions have central dusky zone, self-limited, acute eruption, extremities/face
histo: normal corneum, dying keratinocytes (dead reds), lymphocytes
Steven Johnson syndrome
severe form of erythema multiforme most often due to adverse drug reaction
Erythema Nodosum
delayed hypersensitivity reaction associated with sarcoid, respiratory infections, drugs (OCPs), IBD
young women
tender nodules on shins, panniculitis
histo: septal inflammation
Porphyria Cutanea Tarda
genetic or acquired deficiency in uroporphyrinogen decarboxylase (makes Hb in RBCs)
middle-aged adults
photosensitivity with blisters, erosions or dorsal hands, hypertrichosis
histo: subdermal blister
Risk factors: EtOH, HCV, liver disease
Alopecia Areata
common cause of non-scarring alopecia affecting pigmented hairs
2% population, <20 years
oval patch of hairless skin, exclamation mark hairs
histo: stelae, lymphocytic “swarm of bees” around follicle bulbs
Cicatricial Alopecia
possible related to hair styling, scarring hair loss
AA females
slowly expansive patch
histo: vertical fibrous follicular scarscannot regrow lost hairs
Lipoma
benign tumors of fat
common in adults
soft, mobile, painless, subcutis of proximal ext and trunk
histo: well-encapsulated mass of mature fat cells
Liposarcoma
malignant tumors of fat, can be well-differentiated (MDM2), myxoid/round cell (t 12;16), pleomorphic (aggressive, mets)
common in adults
deep soft tissues of proximal ext and retroperitoneum
histo: lipoblasts resembling fetal fat cells
Nodular Fasciitis
reactive pseudosarcomatous proliferations
adults
several weeks of solitary rapidly growing, painful mass on volar forearm, chest or back in deep dermis
histo: plump fibroblasts in myxoid background, lymphocytes, extravasated RBCs, abundant mitotic figures
Superficial Fibromatosis
benign, infiltrative fibrosing proliferations of the superficial soft tissues
adults
palmar (Dupuytren contracture), plantar, penile (Peyronie disease)
histo: fibroblasts surrounded by dense collagen
Deep Fibromatosis (Desmoid Tumor)
mutations in beta-catenin
teens-30s
gray-white, firm, infiltrative masses, can be extra-abdominal, abdominal, or intra-abdominal (Gardner syndrome)
histo: plump fibroblasts and collagen fibers
Fibrosarcoma
tumor of mesenchymal cell origin that is composed of malignant fibroblasts in a collagen background
rare, adults
most common in retroperitoneum, thigh, knee and distal extremities
histo: malignant spindle cells in herringbone pattern, frequent mitoses, areas of necrosis
Benign Fibrous Histiocytoma (Dermatofibroma)
common cutaneous nodule of unknown etiology
common, adults
painless, slow growing, firm small module nodule in the dermis and subcutis
histo: proliferation of spindle cells, histiocytes, giant cells and hyperplasia of epidermis
Malignant Fibrous Histiocytoma (MFH)
aka pleomorphic undifferentiated sarcoma, diagnosis of exclusion for soft tissue sarcomas that cannot be categorized
adults
proximal extremities and retroperitoneum, large grey-white unencapsulated masses in musculature
histo: malignant spindle cells in storiform pattern, high cytologic pleomorphism, bizarre multinucleated cells
Rhabdomyosarcoma
Embryonal: sarcoma botryoides, most common, develops in wall of hollow mucosal-lined organs; Alveolar: deep musculature of extremities, PAX-FOXO1a fusion
most common soft tissue sarcoma of kids <20
head/neck or GU tract; Embryonal: nasopharynx, bile duct, bladder, vagina; Alveolar: lungs
histo: rhabdomyoblasts, aka strap cell; stain positive for actin, desmin and myoglobin
Leiomyoma
benign smooth muscle tumor
often arises in uterus (fibroid)
histo: intersecting spindle cells with blunt-ended elongated nuclei, minimal atypia, few mitosis
Leiomyosarcoma
malignant smooth muscle tumor
F>M
skin, deep soft tissues of extremities and retroperitoneum
histo: malignant spindle cells with cigar-shaped nuclei, frequent mitoses and necrosis
Hemangioma
capillary: closely packed aggregates, thin-walled capillaries; cavernous: larger, more frequently involving deeper structures; pyogenic: exophytic nodule
majority are superficial lesions, head/neck, liver; pyogenic: skin, gingiva, oral mucosa; often ulcerated with extensive inflammation
Kaposi Sarcoma
low to intermediate grade vascular sarcoma caused by sexual transmission of HHV-8 (KSHV), tumor progression requires cofactor (HIV)
AIDS-associated
Patches, Plaques, Nodules (proliferation of vascular channels)
histo: plump spindle cells admixed with RBCs and inflammatory cells, frequent mitoses, cytoplasmic round pink globules
Angiosarcoma
associated with radiation
older adults
looks like a bruise on skin, soft tissue, breast, liver (chemical carcinogens), upper extremity (lymphedema post mastectomy)
histo: vascular channels lined with plump anaplastic endothelial cells
Synovial Sarcoma
tumor that occurs every
where but synovium, unknown etiology, characteristic (x;18) translocation20s-40s
deep soft tissue around large joints of extremities
histo: biphasic tumor with both epithelial and mesenchymal components
Dermatomyositis
inflammatory disorder of skin and skeletal muscle; humorally-mediated microangiopathy with ischemic necrosis of muscle fibers
adult/juvenile
rash on upper eyelids, malar rash or red papules on elbows, knuckles and knees, bilateral proximal weakness
elevated creatinine kinase, positive ANA, complement deposition in capillaries, perifascicular atrophy
Polymyositis
inflammatory disorder of skeletal muscle; cell-mediated injury associated with other AI diseases
no skin involvement, proximal weakness
CK elevation, endomysial inflammation with necrotic muscle fibers
Inclusion Body Myositis (IBM)
progressive age-related muscle disorder
>50y
quads, wrist/finger flexors involved early; distal asymmetric weakness
inflammation, fibrosis, histo: intracytoplasmic vacuoles surrounded by basophilic granules (rimmed vacuoles), may see ragged red fibers
Duchenne Muscular Dystrophy
deletion in dystrophin gene causes loss of functional dystrophin, tears in muscle cell membranes and cell death
1:3500 male births, X-linked, 1/3 of cases are spontaneous mutations
muscle cells replaced with fat and scar tissue (pseudohypertrophy), waddling gait, Gower’s sign
initial CK increase, later decrease; Histo: fiber splitting, mononuclear cell infiltrates, tears in muscle membranes
Limb-Girdle
heterogeneous group of autosomally-determined progressive dystrophies
variable age of onset
pelvic or should girdle weakness, calf hypertrophy, cardiac/respiratory involvement
elevated CK
Nemaline Myopathy
congenital myopathy
birth to adulthood
proximal weakness, floppy infant with facial and respiratory weakness
histo: rod-shaped structures in muscle fibers
Central Core Disease
congenital myopathy
infancy, early childhood
slowly or non-progressive, skeletal abnormalities
histo: muscle fibers lacking oxidative enzyme activity
highly associated with malignant hyperthermia
Carnitine Palmitoyltransferase II Deficiency
enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for energy use
autosomal recessive; young men
generalized weakness, myoglobinuria precipitated by exercise
elevated CK during attacks
McArdle’s
missing myophosphorylase, glycogenosis type V, second-wind phenomenon
childhood
pain, stiffness, cramps after exercise
myoglobinuria, histo: subsarcolemmal vacuoles
Myasthenia Gravis
acquired AI disease, AutoAb against post-synaptic acetylcholine receptor at NMJ
young women, older men
muscle weakness that worsens with use, ptosis, diplopia, thymic hyperplasia, thymoma
histo: normal, AchR antibodies
Fibromyalgia
chronic pain syndrome due to dysfunctional central pain processing
core features of widespread pain (4 limbs, trunk), and tenderness (11 of 18 points)
Trichinosis
parasitic disease caused by eating raw or undercooked pork or wild game infected with the larvae of T. spiralis, which invades skeletal muscle
18% total populationfever, myalgias, marked eosinophilia and periorbital edema, encephalitis, dyspnea, cardiac failure
histo: oval bodies between muscle fibers, no surrounding inflammatory reaction
ALS
aka Lou Gehrig’s disease; upper and lower motor neuron death leads to muscle weakness
5th decade, familial
asymmetric weakness of hands, dropping objects, later lose muscle strength and bulk, involuntary contractions of individual motor units, respiratory infections
histo: no type 1 fibers, some type 2 fibers show signs of degeneration
