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.  
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 14 free, full-text research articles on human participants. First 3 results:

Fetal inhibition of inflammation improves disease phenotypes in harlequin ichthyosis.
 

Author(s): Denny L Cottle, Gloria M A Ursino, Sally Chi Ieng Ip, Lynelle K Jones, Tia Ditommaso, Douglas F Hacking, Niamh E Mangan, Natalie A Mellett, Katya J Henley, Dmitri Sviridov, Claudia A Nold-Petry, Marcel F Nold, Peter J Meikle, Benjamin T Kile, Ian M Smyth

Journal: Hum. Mol. Genet.. 2015 Jan;24(2):436-49.

 

Harlequin ichthyosis (HI) is a severe skin disease which leads to neonatal death in ∼50% of cases. It is the result of mutations in ABCA12, a protein that transports lipids required to establish the protective skin barrier needed after birth. To better understand the life-threatening ...

Last Updated: 24 Dec 2014

Go To URL
A case of harlequin ichthyosis treated with isotretinoin.
 

Author(s): Laura M Chang, Melissa Reyes

Journal:

 

Harlequin ichthyosis is a rare congenital ichthyosis classified under the category of Autosomal Recessive Congenital Ichthyoses, which also include lamellar ichthyosis and congenital ichthyosiform erythroderma. It is caused by functional null mutations in the ABCA12 gene, a keratinocyte ...

Last Updated: 11 Mar 2014

Go To URL
[Harlequin ichthyosis].
 

Author(s): M J Olmos Jiménez, A González Fernández, J Valverde-Molina, M P Díez Lorenzo

Journal: An Pediatr (Barc). 2014 Apr;80(4):263.

 

Last Updated: 31 Mar 2014

Go To URL

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

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.