Rare disorder with excessive skin peeling explained in Tel Aviv

Apart from the fact that our data uncovers the genetic basis of a fascinating condition, they attribute to filaggrin 2 a critical role in the maintenance of cell-to-cell adhesion in the skin

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May 15, 2018 17:03
1 minute read.
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Skin treatment. (photo credit: Danny Uplinger)

The cause of a rare skin disease that makes the skin peel excessively – and can also have implications for the treatment and prevention of common dermatological disorders – has been discovered by an international team led by researchers at Tel Aviv Sourasky Medical Center.

Prof. Eli Sprecher, chairman of the hospital’s dermatology department, and colleagues here and abroad  recently discovered that “peeling skin syndrome” results from abnormal function of a large protein (due to a mutated gene) called filaggrin 2. Persons with the condition suffer from fragile and continuously peeling skin, especially in very warm weather and following physical trauma to the skin.

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They published their findings in the Journal of Investigative Dermatology.

“Apart from the fact that our data uncovers the genetic basis of a fascinating condition, they attribute to filaggrin 2 a critical role in the maintenance of cell-to-cell adhesion in the skin. The importance of proper adhesion between cells in the skin for the prevention of common disorders such as atopic dermatitis has just recently been recognized. Thus, our observations may also be of relevance to the understanding and treatment of much more common conditions as well.”

The importance of proper adhesion among skin cells for the prevention of common disorders such as atopic dermatitis was only recently recognized.

Intentional skin peeling is often linked with improved cosmetic treatments and wealth, but it can also be harmful. “We found that filaggrin 2 plays an essential role in the maintenance of cohesion between cells in the uppermost layers of the epidermis,” said Janan Mohamad, one of the leading investigators, “Its absence leads to reduced expression of a critical adhesion molecule called corneodesmosin, which is exclusively expressed in this region of the skin, hence explaining the superficial nature of the peeling.”

Ofer Sarig, head of the research laboratory at Sourasky’s dermatology department, noted that “filaggrin 2 deficiency leads to decreased expression of corneodesmosin. We discovered that high temperature also reduces corneodesmosin expression. The additive effect of high temperature and filaggrin 2 deficiency on corneodesmosin expression underlies the seasonality of the disease.”


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