Pro­tein ab­nor­mal­ity linked to ‘peeling skin syn­drome’

The Jerusalem Post - - NEWS - • By JUDY SIEGEL

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.

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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