Genetics & Diagnosis
What gene is mutated in Harlequin Ichthyosis?
ABCA12
What skin layer fails to shed in HI?
Stratum corneum
Why do patients soak in warm water daily?
To soften skin
What drug class improved survival since the 2000s?
Retinoids
What unit does HI connect to in biology class?
Genetics + Internal Systems (50 points if the answer was only one of these)
How is HI inherited?
Autosomal recessive
What does the ABCA12 gene normally help move into skin layers?
Lipids
What clothing material helps avoid skin friction?
Loose, soft, breathable
What is neonatal care?
Intensive care immediately after birth
What does HI stand for?
Harlequin Ichthyosis
What % chance does a child have if both parents are carriers?
25%
This part of the skin fails to shed in HI, leading to hardened layers.
Epidermis
Why is reapplying ointments crucial?
Skin dries and cracks quickly
True or False: There is no organization that deals with HI.
False, FIRST (Foundation for Ichthyosis and Related Skin Types)
What’s one emotional strain HI patients face?
Stigma, bullying, exhaustion, etc.
How can HI be diagnosed before birth?
Genetic testing or ultrasound
Why is cracked skin dangerous?
It allows infection and dehydration
Name one thing patients avoid to stay safe.
Heat, cold, dry air, friction
True or False: There is a permanent cure for HI today.
False
What causes the “armor-like” skin appearance?
Hard, plate-like buildup of skin
Which country had the 1st documented case of HI?
Japan
What is the protein that acts like glue in the skin barrier?
Lipid transporter protein (coded by ABCA12)
Why can bedtime be painful for patients?
Skin tightens, reapplication needed
What’s the main purpose of frequent skin soaking?
To soften hardened skin and allow exfoliation
How do survivors often advocate today?
Public speaking, social media, awareness