Lamellar Ichthyosis

Question 1

Inheritance?

Answer 1

AR

Question 2

What is the molecular defect?

Answer 2

Abnormality of gene encoding for transglutaminase

Question 3

Presenting features?

Answer 3

Newborn presents as colloidion baby → ensheathed in membrane → over weeks → membrane is shed & child develops diffuse, large ,thick brown plate like scales → these states persist for life
Minimal Erythema → present on face

Question 4

Sites?

Answer 4

Generalised lesions
Accentuated on lower extremities & flexural areas

Question 5

Associated features?

Answer 5

Ectropion, eclabium
Rippled hyperkeratosis around joints
Palmar & plantar kerato dermal
Crumpled ears

Question 6

Dx?

Answer 6

Based on h/0 collision membrane at birth
Characteristic scales esp. Over shins
Contin. Rippling over joints

Question 7

Rx?

Answer 7

Mild» hydration, lubrication, keratolytic agents
Severe cases » acitretin

Question 8

How to differentiate from options like
→ ichthyosis vulgaris ,x-linked ichthyosis

Answer 8

Ichthyosis vulgaris → No membrane
X-linked ichthyosis → rare membrane