Harlequin Ichthyosis

Common Name(s)

Harlequin Ichthyosis, Harlequin Fetus

Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin.  The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating.  Mutations in the ABCA12 gene cause harlequin ichthyosis.  This condition is inherited in an autosomal recessive pattern.  
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Harlequin Ichthyosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Harlequin Ichthyosis" returned 15 free, full-text research articles on human participants. First 3 results:

Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice.
 

Author(s): Teruki Yanagi, Masashi Akiyama, Hiroshi Nishihara, Junko Ishikawa, Kaori Sakai, Yuki Miyamura, Ayano Naoe, Takashi Kitahara, Shinya Tanaka, Hiroshi Shimizu

Journal: Am. J. Pathol.. 2010 Jul;177(1):106-18.

 

Harlequin ichthyosis (HI) is caused by loss-of-function mutations in the keratinocyte lipid transporter ABCA12. The patients often die in the first 1 or 2 weeks of life, although HI survivors' phenotypes improve within several weeks after birth. In order to clarify the mechanisms ...

Last Updated: 7 Jul 2010

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Prenatal diagnosis of harlequin ichthyosis using 3- and 4-dimensional sonography.
 

Author(s): Marek J Kudla, Dirk Timmerman

Journal: J Ultrasound Med. 2010 Feb;29(2):317-9.

 

Last Updated: 27 Jan 2010

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Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis.
 

Author(s): Anna C Thomas, Daniel Tattersall, Elizabeth E Norgett, Edel A O'Toole, David P Kelsell

Journal: Am. J. Pathol.. 2009 Mar;174(3):970-8.

 

One of the primary functions of skin is to form a defensive barrier against external infections and water loss. Disrupted barrier function underlies the most severe and often lethal form of recessive congenital ichthyosis, harlequin ichthyosis (HI). HI is associated with mutations ...

Last Updated: 23 Feb 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Harlequin Ichthyosis" returned 1 free, full-text review articles on human participants. First 3 results:

Harlequin ichthyosis unmasked: a defect of lipid transport.
 

Author(s): Alain Hovnanian

Journal: J. Clin. Invest.. 2005 Jul;115(7):1708-10.

 

Harlequin ichthyosis (HI)--the most severe form of keratinizing disorders, often lethal in the neonatal period--is characterized by a profound thickening of the keratin skin layer, a dense "armor"-like scale that covers the body, and contraction abnormalities of the eyes, ears, and ...

Last Updated: 11 Jul 2005

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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