Abnormal transglutaminase 1 expression pattern in a subset of patients with erythrodermic autosomal recessive ichthyosis

The Journal of Investigative Dermatology
K A ChoateP A Khavari

Abstract

An autosomal recessive ichthyosis characterized by collodian membrane at birth followed by generalized skin redness and fine, light-colored scales has been termed nonbullous congenital ichthyosiform erythroderma (CIE). CIE has often been classified together with the other major form of recessive ichthyosis without internal organ involvement, lamellar ichthyosis, which is characterized by minimal erythema and a coarser, darker scale pattern. Recently, autosomal recessive ichthyosis has been associated with keratinocyte transglutaminase (TGase1) defects in some patients. This group of diseases, however, is genetically heterogeneous and TGase1 abnormalities in CIE have not been clearly described. Therefore we examined TGase1 expression in five patients with CIE and three with classic lamellar ichthyosis. Although lamellar ichthyosis patients displayed no TGase1 expression, an abnormal intracellular accumulation of TGase1 was observed in four of five CIE patients. This finding was specific and was not observed in other skin disorders characterized by erythema and abnormal cornification, including erythrodermic psoriasis, atopic dermatitis, epidermolytic hyperkeratosis, and Netherton's syndrome. CIE keratinocytes with abnormal TGase...Continue Reading

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Citations

Mar 17, 2001·The British Journal of Dermatology·M AkiyamaH Shimizu
Apr 11, 2001·Proceedings of the National Academy of Sciences of the United States of America·P B RobbinsP A Khavari
Nov 25, 2003·The British Journal of Dermatology·R H RiceP M Elias
Jun 5, 2003·Clinical and Experimental Dermatology·M AkiyamaH Shimizu
Mar 24, 2000·The British Journal of Dermatology·M AkiyamaH Shimizu
Oct 19, 2000·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·S K LeeS I Chung
Sep 1, 2005·Archives of Dermatological Research·Robert H RicePeter M Elias
May 8, 2008·Journal de la Société de biologie·Emilie WarrickThierry Magnaldo
Apr 23, 2003·Clinics in Dermatology·Ehrhardt ProkschPeter M Elias

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