Formative review

Question 1

Fibrous overcoat of GI, Pulmonary fibrosis, sjogrens syndrome, biliary cirrhosis, arthritis, mysoitis, raynaud;s phenomenon, esophageal dysmotility… All these internal organ involvement in which disease?

Answer 1

Diffuse Cutaneous Systemic Scleorsis

Question 2

What type of arthritis has the following features of this pattern of joint involvement: pain related to use, pain gets worse during the day, minimal morning involvement, range of motion decrease, joint instability, bony enlargement, restricted movement, creptus, variable swelling and instability

Answer 2

osteoarthritis

Question 3

which exhibits dry eyes, dry mouth, scelormalalica, corneal perforation, pleurisy, pericarditis, cervical myelopathy, compressive peripheral neuropathy.

Answer 3

Rheumatoid Arthritis. Key is the eye. Look at the pictures of the eye.

Question 4

insidious onset, chronic low back pain, back stiffness, peripheral joints involved. Dactylitis may occur, Enthesitis. Saroiliac tenderness. lots of subluxation. Anterior Uveitis

Answer 4

Anklosing Spondylitis

Question 5

Constitutional symptoms like fatigue, fever, weight loss, mucocutaneous involvement like malar rash alopecia and ulccers, musculoskeltal involvement, serositis

Answer 5

Systemic lupus erythamatous

Question 6

2 yo WF w/ vaginal bleeding. Skin shows patches (cafe-u-latte spots) and bone lesion with middle enlargement.

Answer 6

albrights syndrome. fibrous dysplsia. puberty by age 2

Question 7

Rearragement leading to USP6 overexpression

Answer 7

Anerurymsal bone cyst

Question 8

Dominant negative mutation in gene for pro-alpha 1 (1) type 1 collagen

Answer 8

osteogenesis impefecta

Question 9

gain of function mutation in gene for FGFR3 receptor

Answer 9

achondroplasia

Question 10

gain-of-function mutation in GNAS1 gene

Answer 10

fibrous dysplasia

Question 11

loss of function muatation in CA2 gene

Answer 11

osteopetrosis

Question 12

missense mutation in homeobox HOXD13 gene

Answer 12

brachydactyly