The Journal of investigative dermatology
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J. Invest. Dermatol. · Jan 1998
Abnormal transglutaminase 1 expression pattern in a subset of patients with erythrodermic autosomal recessive ichthyosis.
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. ⋯ CIE keratinocytes with abnormal TGase1 localization expressed full-length TGase1 mRNA and protein but demonstrated transglutaminase activity intermediate between normal and the minimal activity seen in lamellar ichthyosis patient cells. The abnormal TGase1 expression pattern and CIE clinical features were recapitulated in epidermis regenerated in vivo on immune deficient mice from CIE patient keratinocytes. These studies describe a specific abnormality in TGase1 intrinsic to keratinocytes in a subset of CIE patients and suggest that this abnormality may be involved in the disordered epidermal differentiation seen in this disorder.