Block 3 Pathology

Front 1

Classic Type Ehler's Danlos is associated with a mutation of what gene causing what defect?

Back 1

A mutation of 9q34 and 2q31 causes a defect in Type 5 Collagen, resulting in what condition?

Front 2

Vascular Type Ehler's Danlos is associated with a mutation of what gene causing what defect?

Back 2

A mutation of 2q31 causes a defect in Type 3 Collagen, resulting in what condition?

Front 3

There is an increased risk of what two conditions in patients with Ehler's Danlos?

Back 3

Patients with this condition (among other conditions) have an increased risk of scoliosis and mitral valve prolapse.

Front 4

Marfan syndrome has what mutation?

Back 4

An autosomal dominant mutation of FBN1 gene is associated with what condition?

Front 5

Lens dislocation (ectopia lentis) is a risk in patients with what condition?

Back 5

Marfan Syndrome patients are at increased risk for what eye problem?

Front 6

Describe the Dominant Negative effect.

Back 6

The product of the mutated gene has a negative effect on the products of the normal gene. What is this phenomenon known as?

Front 7

Describe Osteogenesis Imperfecta Type I.

Back 7

Autosomal dominant mutation, exhibiting hearing loss and osteoporotic changes. The mildest form. What condition is this?

Front 8

Decribe Osteogenesis Imperfecta Type II.

Back 8

Autosomal recessive mutation (possibly AD), usually lethal at birth/intrauterine. The most severe form where very little or no collagen is produced, resulting in significant skeletal deformities and shortened bones. What condition is this?

Front 9

Decribe Osteogenesis Imperfecta Type III.

Back 9

Autosomal dominant mutation (possibly AR), exhibiting cartilagenous masses at the metaphysis/diaphysis of bones, and blue sclera. Patients progressively need to use a wheelchair. What condition is this?

Front 10

Decribe Osteogenesis Imperfecta Type IV.

Back 10

Autosomal dominant or new mutation causing short stature, propensity to fracture, abnormal teeth, normal sclera, and ambulating scoliosis. What condition is this?

Front 11

Osteogenesis Imperfecta is a Type I collagen disorder associated with mutations in any of what 4 genes?

Back 11

COL1A2 gene at 7q22.1 forms procollagen II.

COL1A1 gene at 17q21 forms procollagen I.

Mutations here can cause what type of disorder?

Front 12

1 yo patient presents with multiple fractures and lots of bruises. DEXA scan reveals decreased bone density. What is your diagnosis?

Back 12

Osteogenesis Imperfecta has what major symptoms and radiological findings?

Front 13

Patient presents with chronic fatigue, joint and muscle pains, swollen hands with Raynaud's, and a rash. What do you expect the labs to show?

(MCTD)

Back 13

+ Coombs test
+ RF
+ anti-RNP
elevated serum Ig's and WBC's
anemia

These are common lab findings in a patient with what condition?

Front 14

Dystrophic Calcinosis Cutis has what lab findings?

Back 14

Normal Serum Ca and Phosphates are found in the labs of what type of Calcinosis Cutis?

Front 15

Metastatic Calcinosis Cutis has what lab findings?

Back 15

Elevated Serum Ca and Phosphates are found in the labs of what type of Calcinosis Cutis?

Front 16

Calcium deposition in the dermis or subcutaneous tissue with pain, nodules, reduced joint ROM, and possible ulcers from ischemia is known as what?

Back 16

Calcinosis Cutis has what general characteristics?

Front 17

What type of Calcinosis Cutis presents with progressively enlarging clacified nodules near hip/elbow joints, often in patients with renal insufficiency?

Back 17

Tumoral (AR) Calcinosis Cutis often has what presentation?

Front 18

What is the most likely etiology of Transplant Calcinosis Cutis?

Back 18

Patients receiveing large amounts of blood products containing citrate and Ca are at risk for what condition?