Harlequin Ichthyosis

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Harlequin Ichthyosis

• By Dan Hood, Matt Sharbaugh, Brian Monterroso

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WARNING!

• THE IMAGES YOU ARE ABOUT TO SEE ARE REAL AND MAY
  CAUSE SOME TO BECOME QUEASY !

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Biological Basis

• Intro
• Harlequin Ichthyosis, most commonly known as
  harlequins disease or HI is the most sever form
  of keratinizing disorders.
• The condition is characterized by a profound
  thickening of the external layer of the skin.

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The Condition

• This rare but debilitating condition occurs in 1
  in 300,000 births.
• The babies are born with a massive hard shell
  like covering containing many deep fissures.
• The babies also have problems contracting their
  eyes, mouths, and appendages.
• They have a hard time moving because where there
  are folds on a normal baby there are cracks on an
  HI child.

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The Condition Continued

• In most cases the child is born prematurely.
• Most of the time the child dies within a few days
  because of respiratory disease, bacterial
  infections, feeding difficulties, and body
  temperature regulation.
• Respiratory failure can result from restricted
  movement of the chest muscles, and bacterial
  infections occur from the lack of a protective
  outer layer. The bacteria can easily enter the
  baby through the fissures in the skin. The
  cracks in the skin allow water and heat to
  escape.

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Surviving HI

• With improved neonatal care more HI children have
  the chance of survival.
• The few survivors have skin that turns dark red
  and very scaly.
• The skin will eventually from a scaly layer and
  dry out so water retention and sun protection are
  concerns for the survivors.

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Detection

• One way to notice the child has abnormalities is
  through a sonograph during the second trimester.
• The sonograph shows abnormal facial features and
  small foot size in ratio to the femur.
• A fetal skin biopsy can be done but it is an
  invasive procedure. From the biopsy, tests can
  be run on the childs genes to see if they are
  abnormal.

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Genetics

• HI is caused by a frame shift mutation or a large
  deletion.
• The gene effected is the ABCA12 in the 2q35
  region, which is involved in lipid transport that
  impacts the development of the epidermis.

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Genetics

• The condition is inherited autosomal recessively.
• This means an effected individual must have two
  copies of the gene on chromosome 2 to have the
  disorder.
• People with only one copy of the normal ABCA12
  gene are not effected by the disorder.
• The disorder does not show prevalence in gender
  or racial background.
• There have been many cases of HI in southern Iraq
  where mothers were exposed to uranium oxide
  during the early stages of pregnancy.

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Lipid Transport

• Members of the class of ABCA genes are involved
  in lipid transport across cell membranes. The
  proteins the gene produces bind to ATP for active
  transport of lipids to the stratum corneum, the
  outer most layer of the skin. These lipids are
  important for the protection of the skin.

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Lipid Transport
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Treatment

• The treatment of HI babies is quite extensive.
• The vitals of an HI baby must be constantly
  monitored.
• Their eyes must be constantly kept moist and
  shielded from the sun.
• The environment they live in must be constantly
  kept sterile to protect from infection.
• They must have a salt solution applied followed
  by a lubricant to facilitate the skin cells to
  fall off and to keep the cells moist.
• Antibacterial pills and creams are also used to
  fight infection.

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Ryan Gonzalez

• Almost all HI children die in infancy but there
  are exceptions.

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Birth

• He was born with harlequin ichthyosis.
• Dr. Brian Saunders, a neo-natologist, cared for
  Ryan during the first critical moments of life.
• Ryans skin was so tight that it was crushing his
  lungs.
• Accutane, a vitamin A derivative, was used to
  keep the skin from hardening.
• His scales became smaller and thinner.

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Life of a Harlequin

• He competes in triathlons.
• To keep his skin from hardening, he covers
  himself in lotion 7 times per day.
• He has to consume 7,500 calories per day.
• He tube feeds himself pure protein every night
  while he sleeps to help him produce extra skin
  cells.

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The View

• The condition was first described in South
  Carolina by Reverend Oliver Hart.
• "On Thursday, April ye 5, 1750, I went to see a
  most deplorable object of a child, born the night
  before of one Mary Evans in Chastown. It was
  surprising to all who beheld it, and I scarcely
  know how to describe it. The skin was dry and
  hard and seemed to be cracked in many places,
  somewhat resembling the scales of a fish. The
  mouth was large and round and open. It had no
  external nose, but two holes where the nose
  should have been. The eyes appeared to be lumps
  of coagulated blood, turned out, about the
  bigness of a plum, ghastly to behold. It had no
  external ears, but holes where the ears should
  be. The hands and feet appeared to be swollen,
  were cramped up and felt quite hard. The back
  part of the head was much open. It made a strange
  kind of noise, very low, which I cannot describe.
  It lived about forty-eight hours and was alive
  when I saw it."

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Live or Die?

• Two doctors in the Netherlands have developed a
  checklist to determine whether a newborn is
  suffering greatly or not.
• If the doctors find that the child is suffering
  greatly, they support euthanasia (assisted
  suicide).
• Our society has gone off the edge in terms of
  protecting the vulnerable by forcing them to
  suffer.Glen McGee

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References

• http//ghr.nlm.nih.gov/conditionharlequinichthyos
  isstatistics
• http//www.asylumeclectica.com/malady/archives/har
  lequin.htm
• http//www.10news.com/health/3919722/detail.html
• http//dermatology.wustl.edu/dermsub/caseofmonth/7
  -2000a.html
• http//www.scalyskin.org/content.cfm?ContentID222
  ColumnID6
• http//www.jultrasoundmed.org/cgi/content/full/23/
  12/1653
• http//www.pubmedcentral.nih.gov/articlerender.fcg
  i?artid1199369
• http//www.bbc.co.uk/dna/h2g2/A3816830
• http//www.jci.org/content/vol115/issue7/images/la
  rge/JCI0525736.f1.jpeg
• http//ribosome.med.miyazaki-u.ac.jp/RPDB/Map/RPL3
  7A.gif
• http//www.answers.com/topic/harlequin-type-ichthy
  osis
• Chan, Y et. All. Harlequin Ichthyosis in
  Association with Hypothyroidism and Juvenile
  Rheumatoid Arthritis. Pediatric Dermatology. Vol
  20. No. 5. p. 421-426. 2003.