Hypermobility

Question 1

What features of a history would indicate a connective tissue disease with hypermobility?

Answer 1

Broad range of symptoms which encompasses issues with bones/joints, skin and vasculature

i.e.

mechanical falls and sprains/fractures/dislocations

hx of bleeding

easy bruising, scars

skin abnormalities

Question 2

What are the pathognomonic signs of pseudoxanthoma elasticum?

Answer 2

Blue sclera

Retinal angioid streaks

Plucked chicken skin: loose skin folds in neck and axilla with yellow pseudoxanthoma plaques

Premature coronary artery disease

Question 3

What is the inheritance of pseudoxanthoma elasticum?

Answer 3

80% autosomal recessive

ABCC6 gene on chromosome 16

Question 4

How might you differentiate pseudoxanthoma elasticum from Ehler’s Danlos syndrome?

Answer 4

EDS: no blue sclera, generally no premature coronary artery disease, no chicken skin appearance, FHx more prominent due to dominant inheritance

Question 5

What is the inheritance of Ehler’s Danlos syndrome?

Answer 5

Mnay different genes but generally autosomal dominant.

Genetic testing an evolving field in EDS.

Can be used for classical EDS (COL5A1/2)

Hypermobile EDS is clinical diagnosis with evolving genetic testing.