True Connective Tissue Disorders...

Front 1

Type 1 Collagen is?

Back 1

Type I: Bone

Front 2

Type 2 Collagen is?

Back 2

Type 2: Hyaline Cartilage

Front 3

Type 3 Collagen is?

Back 3

Type 3: Blood Vessels

Front 4

Type 4 Collagen is?

Back 4

Type 4:
Basement Membranes
Eye Lens
Filtration System for Caps and Glomeruli

Front 5

Type 5 Collagen is?

Back 5

Type 5:
Basement Membrane Anchoring FIbers
Placental stuff

Front 6

Who are the important CT disorders?

Back 6

Marfan's
Homocystinuria
Ehlers-Danlos Syndrome
Cutis Laxa
Alkaptonuria/Ochronosis
Pseudoxanthoma Elasticum
Ostogenesis Imperfecta
Scurvy
Vitamin D Deficiency

Front 7

Inheritance of Marfan's?

Back 7

Autosomal Dominant

Front 8

MARFAN'S
Pathogenesis?

Back 8

Abnormality of Fibrilin

Front 9

MARFAN'S
Skeletal Sx's?

Back 9

Long legs as compared to trunk
Archnodactyly
Pectus Deformities
Mild Joint laxity
High Arched Palate

Front 10

MARFAN'S
Other Sx's

Back 10

Muscular Underdevelopment
High Incidence of Hernias
Lens Dislocation
Aortic Root Dilation

Front 11

MARFAN'S
What can you hear that is indicative of aortic insufficiency?

Back 11

Diastolic Blow

Front 12

MARFAN'S
Dx?

Back 12

Requires two abnormal systems:
Skeletal
Cardiac
Ocular

Front 13

MARFAN'S
Special Concern with Aortic issues?

Back 13

Pregnancy and labor

Front 14

MARFAN'S
Histopath of Aortic Dissection?

Back 14

Cystic Medial Necrosis --> Dissection

Front 15

HOMOCYSTINURIA
Pathogenesis

Back 15

Inherited disorder involving metabolism of methionine via deficiency of cystathionine synthetase

Front 16

HOMOCYSTINURIA
Sx's?

Back 16

Impaired Growth & Development
Impaired Tissue Repair
Nearsightedness
Scoliosis
Mental Retardation
Lots more...

Front 17

HOMOCYSTINURIA
Dx?

Back 17

Excess homocysteine in urine and blood
DDX w/ marfan's

Front 18

EHLERS-DANLOS SYNDROME
Most Common Pathogenesis

Back 18

Defect in Collagen in skin, bone, tendons, and vessels (type I and III)

Front 19

EHLERS-DANLOS SYNDROME
how many subtypes?

Back 19

9

Front 20

EHLERS-DANLOS SYNDROME
General Sx's

Back 20

Hyperextensibility of Joints and Skin
Large Vessel Fragility
Vulnerability to Retinal Detachment

Front 21

EHLERS-DANLOS SYNDROME
Gravis and Mitis Type Sx's

Back 21

Muscle Hypotonia
Easy Bruising

Front 22

EHLERS-DANLOS SYNDROME
Gravis and Mitis Genetic Defect?

Back 22

Abnormal pro-alpha 1 or 2 chain in type V collagen

Front 23

EHLERS-DANLOS SYNDROME
Hypermobility Type: Major Clinical Fts?

Back 23

Joint Hypermobility
Skin Hyperextensibility
Smooth skin

Front 24

EHLERS-DANLOS SYNDROME
Hypermobility Type:
Minor clinical fts?

Back 24

Recurrent joint dislocations

Front 25

EHLERS-DANLOS SYNDROME
Hypermobility Type:
Defect?

Back 25

Unknown

Front 26

EHLERS-DANLOS SYNDROME
Vascular Type:
Major Characteristics?

Back 26

Arterial/intestinal/uterine fragility or rupture
Easy Bruising
Characteristic Face

Front 27

EHLERS-DANLOS SYNDROME
Vascular Type:
Minor characteristics?

Back 27

Hypermobility of small joints
Tendons/muscle rupture

Front 28

EHLERS-DANLOS SYNDROME
Vascular Type:
Genetic Defect?

Back 28

Defective proA-1 chain in collagen type III

Front 29

EHLERS-DANLOS SYNDROME
Kyphoscoliosis Type:
major sx's?

Back 29

Joint laxatiy
Muscle Hypotonia (esp infants)
Scoliosis
Sclera Fragility

Front 30

EHLERS-DANLOS SYNDROME
Kyphoscoliosis Type:
Minor sx's?

Back 30

Tissue fragility
easy bruising
arterial rupture

Front 31

EHLERS-DANLOS SYNDROME
Kyphoscoliosis Type:
defect?

Back 31

Def of lysyl hydroxylase (collagen modifier)

Front 32

EHLERS-DANLOS SYNDROME
Dermatosparaxis Type:
major sx's?

Back 32

Severe skin fragility
sagging
redundant skin

Front 33

EHLERS-DANLOS SYNDROME
Dermatosparaxis Type:
minor sx's?

Back 33

Soft, doughy skin
Easy bruising
premature rupture of fetal membranes

Front 34

EHLERS-DANLOS SYNDROME
Dermatosparaxis Type:
defect?

Back 34

Deficiency of procollagen 1 N-terminal peptidase of collagen I

Front 35

EHLERS-DANLOS SYNDROME
Arthrochalasia Type:
inheritance?

Back 35

Autosomal Dominance

Front 36

EHLERS-DANLOS SYNDROME
Arthrochalasia Type:
Sx's?

Back 36

Severe generalized joint hypermobility
Skin Hyperextensibility
Easy bruising
Thin scars w/ poor wound healing

Front 37

EHLERS-DANLOS SYNDROME
Arthrochalasia Type:
defect?

Back 37

Deficient processing of ProA1 and proA2 into collagen type I

Front 38

EHLERS-DANLOS SYNDROME
Arthrochalasia Type:
dx?

Back 38

defect detection
skin biopsy

Front 39

CUTIS LAXA
onset?

Back 39

sx's can appear soon after birth
OR
in kids suddenly w/ a fever and rash
OR
gradually in adults

Front 40

CUTIS LAXA
pathogenesis?

Back 40

Elastic fibers in skin become loose

Front 41

CUTIS LAXA
involvement?

Back 41

usually just skin
sometimes other CT in body
sometimes MR too

Front 42

CUTIS LAXA
etiology?

Back 42

usually hereditary

Front 43

ALKAPTONURIA
pathogenesis?

Back 43

1. Deficient amounts of Homogentisic Acid Oxidase (HGAO)
2. Increased level of Homogentisic Acid
3. Build up of HGA--> tissue damage
4. Result is Ochronosis

Front 44

ALKAPTONURIA
What is Ochronosis?

Back 44

blue-black discoloration of CT in bones, cartilage, and skin

Front 45

ALKAPTONURIA
onset?

Back 45

early, but Sx's don't present till ~40

Front 46

ALKAPTONURIA
possible early sign?

Back 46

dark diapers
dark urine

Front 47

ALKAPTONURIA
Chief morbidity?

Back 47

Painful Arthritis

Front 48

ALKAPTONURIA
Rx?

Back 48

Diets low in protein

Front 49

ALKAPTONURIA
involvement?

Back 49

Skeletal (bones and cartilage)
CV (heart and vessels)
GU
Resp
Ocular
Cutaneous
Other

Front 50

ALKAPTONURIA
how does it affect the CV system?

Back 50

stiffening of aortic and mitral valves

Front 51

ALKAPTONURIA
how does it affect GU?

Back 51

prostate stones

Front 52

ALKAPTONURIA
how does it affect skin?

Back 52

discoloration of skin and sweat (stains clothes)

Front 53

PSEUDOXANTHOMA ELASTICUM
involvement?

Back 53

skin
eyes
GI
CV

Front 54

PSEUDOXANTHOMA ELASTICUM
etiology

Back 54

Rare Inherited disorder

Front 55

PSEUDOXANTHOMA ELASTICUM
pathogenesis?

Back 55

abnormal calcification of elastic tissues

Front 56

PSEUDOXANTHOMA ELASTICUM
Eye Sx's?

Back 56

Angioid Streaks

Front 57

what the crap are angioid streaks?

Back 57

breaks in Bruch's membrane of retina that radiate from optic nere and mimic blood vessels
(50%)

Front 58

PSEUDOXANTHOMA ELASTICUM
skin sx's?

Back 58

Chicken Plucked Skin on Neck

Front 59

when else might you see angioid streaks?

Back 59

Idiopathic
Ehlers-Danlos
Paget's
Sickle Cell

Front 60

OSTEOGENESIS IMPERFECTA
pathogenesis?

Back 60

Defective Collagen Type I Synthesis

Front 61

OSTEOGENESIS IMPERFECTA
Etiology?

Back 61

Most common type is auto dom

Front 62

OSTEOGENESIS IMPERFECTA
Sx's

Back 62

Marked Cortical Thinning
Attenuation of Bone Trabeculae
Multiple fractures
Blue Sclera
Deformed teeth and skin

Front 63

OSTEOGENESIS IMPERFECTA
aka?

Back 63

brittle bone disease

Front 64

SCURVY
sx's

Back 64

Hemorrhages secondary to cap breakdown
Subperiosteal hemorrhages
Failure of epiphyseal cartilage replacement by osteoid
Osteoporosis
Red, Raised lesions around hair follicles (cork screw hairs)
Gingival hemorrhages

Front 65

VITAMIN D DEFICIENCY
Types?

Back 65

Rickets (kids)
Osteomalacia (adults)
Renal Disease (renal osteodystrophy)

Front 66

VITAMIN D DEFICIENCY
Sx's of Rickets?

Back 66

Skeletal malformations
Craniotubes (thin, soft bones)
Decreased height
Rachitic Rosary
Pigeon Breast

Front 67

VITAMIN D DEFICIENCY
what is Rachitic Rosary

Back 67

thickening of costochondral jxn resembling string of beads

Front 68

VITAMIN D DEFICIENCY
Sx's of Osteomalacia?

Back 68

Looser zones or pseudofractures
Fractures
Radioluceny on radiograph