X Linked recessive Ichthyosis Flashcards
1
Q
X linked recessive ichthyosis
A
Steroid sulfatase deficiency
Only seen in men
2
Q
Pathogenesis
A
Steroid sulfatase gene mutation
Cholesterol sulfate cannot be broken down
Retention hyperkeratosis develops
3
Q
Clinical features
A
Improves in summer
Large brown polygonal scales divided by wide splits
Scalp
Ears
Neck
Trunk and extremities
Ocular opacity
Delayed labor
Hypogonadism
4
Q
Diagnosis
A
Elevated plasma cholesterol sulfate
Opthalmological examination
5
Q
How is out different from ichthyosis vulgaris
A
No hyperlinear palms
No keratosis piliaris
There’s fexural involvement
Larger and darker scales
6
Q
Therapy
A
Cholesterol ointment typically
Urea
Lactic acid
