Harlequin Ichthyosis

:rare and most severe form of Ichthyosis (ichthy: fish) that affects infants at birth
(1) Genetic Cause
ABCA12 Gene on Chromosome 2
Controls protein that is essential for the normal development of skin cells; protein
plays major role in transport of fats (lipids) to outermost layer of skin (epidermis); hardening of
keratin in epidermis
Autosomal Recessive: baby receives one mutation from each parent, who are
carriers but do not display any signs of the condition themselves
MUTATION:
May prevent cell from making any ABCA12 protein
Production of small amount of protein resulting in movement of liquids
improperly
(2) Symptoms
Babies affected with Harlequin are born with extremely thick plates of skin almost like armor
with deep red fissures over their entire bodies. This thick skin pulls tightly, causing deformed facial
features. The eyes are pulled so tightly that the lids are flipped inside out and bright red from irritation.
Often the nose and ears are barely able to be seen under the plates of skin. And the fingers and toes are
contracted and shortened due to the pulling of the thick skin. Eventually, the original skin will peel off,
leaving reddened and flaky skin underneath. However, dehydration, temperature changes and infection
will always be a concern for children with Harlequin ichthyosis because their epidermis doesnt regulate
their own body temperature, hold in moisture or keep out bacteria (BlessedbyBrenna).
Thick skin plates that crack and split
Distorted facial features
Tight skin around eyes and mouth (may force eyelids and lips to turn inside out and affect ability
to feed)
Restricted breathing (when chest or abdomen is affected)
Hands and feet that are small, swollen and partially flexed
Deformed ears or ears fused to the head (may appear to be missing)
High blood sodium levels
(3) Treatments
SIMPLE

Intravenous (taking place of veins) tubes to deliver nutrition and fluids

Monitoring of electrolytes and sodium
Lubrication and protection of eyes, if eyelids are forced open
Heated, high humidity incubator to maintain body temperature and prevent skin

cracks
Antibiotics to prevent infection
Retinoids to accelerate shedding of skin scales
Creams or ointments containing the drug etretinate should be used to decrease the
amount of scale
Medication for pain management
LONG-TERM
Ongoing, daily skin care routine to keep skin supple and moisturised and stave off
dryness, scaling and cracking that can cause infection
(4) Rarity

 1 in 300,000 births
(5) Fatality
The mortality for harlequin ichthyosis rate is high. With neonatal intensive care and the advent of
retinoid therapy, some babies have survived the newborn period. They are still at risk of dying from
systemic infection, which is the most common cause of death
In case conducted, of the 45 cases, the ages of the survivors ranged from 10 months to 25 years,
with an overall survival rate of 56%. Death usually occurred in the first 3 months and was attributed to
sepsis and/or respiratory failure in 75% of cases. The early introduction of oral retinoids may improve
survival, since 83% of those treated survived, whereas 76% who were not given retinoids died.
Recurrent skin infections in infancy affected one-third of patients. Problems maintaining weight affected
44%. Three children developed an inflammatory arthritis, and developmental delay was reported in
32%. Mutation analysis revealed that 52% of survivors had compound heterozygous mutations, whereas
all deaths were associated with homozygous mutations.
(6) Facts
1. In the past, babies diagnosed with Harlequin ichthyosis, the most severe form, rarely survived
the first few days of life. However, with recent advances in neonatal care and the advancement of
medical care, Harlequin infants do survive and lead fulfilling lives. In fact, several surviving children
with Harlequin ichthyosis are now young adults.
2. People with HI do not sweat because of the thickness of their skin
3. HI is not contagious because it is autosomal recessive it passes through the mutations of the
parents genes.
4. The oldest person living with HI is Stephanie Turner who has had a baby boy.
5. Ichthy comes from the Greek root meaning fish.
(7) Research
Genetic testing for parents to see if they are carriers
Drugs to lessen skin lesions and pain
Research Institutions:
ACTION (medical research for children)
SHHIRT Ichthyosis Funding for Research

Works Cited
Ed. Brigham Narins. Vol. 1. 2nd ed. Detroit: Gale, 2005. p579-581. COPYRIGHT 2006 Gale
"Harlequin Ichthyosis - Blessed by Brenna." Blessed by Brenna. Genesis Framework, 2015. Web. 17 Apr. 2015.
"Harlequin Ichthyosis." Genetics Home Reference. U.S. National Library of Medicine, 13 Apr. 2015. Web. 17
Apr. 2015.
"Harlequin Ichthyosis." JAMA Network. American Medical Association, 2015. Web. 17 Apr. 2015.
"Ichthyosis, Harlequin Type." Rare-diseases National Organization for Rare Disorders. National
Organization for Rare Disorders, n.d. Web. 17 Apr. 2015.
"Skin Problems Health Centre." Harlequin Ichthyosis Skin Disorder. Web MD, 2013. Web. 17 Apr. 2015.
Zink, Christie. "Rare Disease Day - Spotlight on Harlequin Ichthyosis." WordPress, 27 Feb. 2013. Web. 17 Apr.
2015.