MSK Flashcards
Describe SUFE ?
10-15 YEAR OLD OBESE POST GROWTH SPURT
Displacement of the epiphysis of the femoral head posteroinferiorly, requiring prompt treatment in order to prevent avascular necrosis
Describe perthes
Boys aged 4-8
Interruption of the blood supply causes avascular necrosis of the capital femoral epiphysis of the femoral head, and is followed by revascularization and reossification over 18–36 months
What is the most common form of osteogenesis imperfecta? what is gene mutation + inheritance
Osteogenesis imperfecta type 1
COL1A1/COL1A2 AD
What is classic presentation of osteogenesis imperfecta type 1?
multiple childhood fractures
Bue sclera. +/- hearing loss
what are the inherited forms of rickets?
X-linked hypophosphataemic rickets, McCune–Albright syndrome/polyostotic fibrous dysplasia.
Describe Junvenile dermatomysositis + presentation
small vessel vasculopathy
heliotrope rash over the face, periorbital oedema, Gottron papules over the extensor surfaces and proximal muscle weakness.
Describe Marfan syndrome and its inheritance
AD
tall, high arched palrt, pectus excavatum, long thin digits
up and in lens dislocation. Aortic root dilatation and mitral valve prolapse
What is inheritance of achondropasia?
A.D.
50% are de novo!
What HLA type is a/w SLE?
HLA D8, DR2 and DR3
What serology is suggestive of Lupus?
anti dsDNA-75%
Anti phospholipid
ANA - 90%
rheumatoid factor - 30%
What rashes are classically seen in Lupus?
malar rash (butterfly)
discorid rash
They both classically appear on exposure to sunlight
Define jouvenile idiopathic arthritis
Chronic arthritis affecting one or more joints for > 6months
How many subtypes of JIA are there, and what are they?
(name at least 4)
7
Oligoarticular arthritits
Systemic arthritis
Polyarticular arthritis rheumatoid factor pos
Polyarticular arthritis rheumatoid factor neg
psoriatic arthritis
enthesitis-related arthritis
undifferentiated arthritis
What is the presentation of systemic Jouvenile idiopathic arthritis?
Fever > 2 weeks, usually late in the day.
Salmon pink rash
a/w hepatosplenomegaly, peluritis, pericarditis, peritonitis
What is the presentation of oligoarthritis?
4 joints or less
stiffness more common than pain
more commonly effects ankle and knees.
a/w chronic ie. painles uveitis