Harlequin ichthyosis (Skin Disorder) educational and inspirational video

Harlequin Ichtyosis

Inspirational: 14yr Old Girl With Harlequin Ichthyosis (Skin Disorder) Wants To Be Accepted In The World & Letting People Know Not To Judge (Doing Speeches To Uplift Children With The Same Issues)

What is harlequin ichthyosis?

Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure.


The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life. It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, people with this disorder now have a better chance of living into childhood and adolescence.

How common is harlequin ichthyosis?

Harlequin ichthyosis is very rare; its exact incidence is unknown.

Where can I find additional information about harlequin ichthyosis?

You may find the following resources about harlequin ichthyosis helpful. These materials are written for the general public.

• MedlinePlus - Health information
  
  Health Topic: Skin Conditions
• Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases
• Educational resources - Information pages (2 links)
• Patient support - For patients and families (4 links)
  

  What other names do people use for harlequin ichthyosis?

  • Harlequin baby syndrome
  • HI
  • Ichthyosis Congenita, Harlequin Fetus Type

Resources:

• http://ghr.nlm.nih.gov/condition/harlequin-ichthyosis


• Hovnanian A. Harlequin ichthyosis unmasked: a defect of lipid transport. J Clin Invest. 2005 Jul;115(7):1708-10. Review. PubMed citation


• Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. 2005 May;76(5):794-803. Epub 2005 Mar 8. PubMed citation


• Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E, Taylor AE, Wilroy RS, DeLozier C, Burrows N, Goodyear H, Fleckman P, Stephens KG, Mehta L, Watson RM, Graham R, Wolf R, Slavotinek A, Martin M, Bourn D, Mein CA, O'Toole EA, Kelsell DP. ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol. 2006 Nov;126(11):2408-13. Epub 2006 Aug 10. PubMed citation