Harlequin Ichthyosis

What living cell moves up through the epidermis to the stratum corneum?

Corneocyte

Keratincocyte

Epiocyte

Skin cell

What gene is the key player in the pathophysiology of Harlequin Ichthyosis?

ATP Bound Carrier family A member 12

Action Binding Transporter family A member 12

ATP-binding Cassete family A member 12

Accumulative-binding carrier family A member 12

What is the pathophysiological mechanism that causes respiratory failure in Harlequin Ichthyosis?

Reduction in elastin in the lungs

Reduced lung capacity

Thick skin restricitng chest movement

Cracked skin causing skin to pull apart

What is the name of the middle layer of the skin?

Dermis

Epidermis

Hypodermis

Endodermis

Which one of these days in embryonic development would be ideal to diagnose Harlequin Ichthyosis?

Day 11

Day 14

Day 20

Day 7

What is the main area of research for tackling infections in newborns with Harlequin Ichthyosis?

Intensive care

Antibiotics

Anti-virulence drugs

Sterile treatment

Which one of these is not a drawback to gene transfer with viral vectors?

Cost

Toxicity

Complexity

Reliability

Which drug encourages the shedding of the skin?

Rumatones

Retinoids

Doxyclyclin

Steroids

What is the main molecule transported by ABCA12?

Glycerol

Corneocyte

Glucosylceramide

ATP

What is the name of the process by which dead keratinocytes are shed from the skin?

Desquamation

Deformation

Cornification

Decelleration

Harlequin Ichthyosis

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