Monday, March 10, 2014

Harlequin Ichthyosis


Harlequin ichthyosis a medical condition in which a new born is covered in thick, hard, and patchy diamond shaped plates of skin. In between the plates are deep cracks which can cause abnormalities in the appearance of eyes, nose, mouth, arms and legs. Movement for these individuals are very limited as deep cracks are developed between the bending portions of their bodies making it painful to move.
A new born with Harlequin ichthyosis, courtesy of

The Importance of Skin

Skin serves as a protective barrier for our bodies to fight off environmental threats such as: illnesses, injuries and infection. Skin also serves to regulate temperature as we sweat when our body gets too warm or shiver as a mechanism to increase body temperature. Children with Harlequin ichthyosis lack the gene to regulate their body temperature and their skin cannot serve as the proper protective barrier and therefore must be monitored heavily in the intensive care unit for survival.
Sisters Hannah and Lucy living with the condition, courtesy of

Causes of Harlequin Ichthyosis

It is now understood that the mutations in the ABCA12 gene causes Harlequin ichthyosis. The ABCA112 gene provides instructions for making the ABC transporter protein. The ABC transporter protein transports many types of cells across a cell membrane but most importantly transports lipids to the outermost layer of the skin. The transportation of lipids to the skin is very important for the skin's normal development. Because of the lack of the ABCA12 gene, many individuals afflicted with Harlequin ichthyosis cannot form that protective barrier correctly leading to high risk of dehydration and infections. Harlequin ichthyosis is extremely rare and is passed on by a recessive gene from both parents.  

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