Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/54225
Title: Altered expression of immunoreactive involucrin in lamellar ichthyosis
Authors: Peña-Penabad, Carmen
De Unamuno, Pablo
García Silva, Jesus
Ludeña, Ma Dolores
González-Sarmiento, Rogelio
Pérez-Arellano, Jose Luis 
Keywords: Recessive Ichthyosis
Keratinocyte Transglutaminase
Monogenic Disorders
Mutations
Identification, et al
Issue Date: 1999
Publisher: 1167-1122
Journal: European Journal of Dermatology 
Abstract: In some cases of lamellar ichthyosis, mutations in the epidermal transglutaminase gene and a reduction in the thickness of the cornified envelope have been documented. Involucrin is a major component of the cornified envelope and a substrate for epidermal transglutaminase, The aim of the present work was to analyse the expression of involucrin in lamellar ichthyosis, An ultrastructural study and/or immunohistochemical and biochemical techniques with anti-involucrin antibody were carried out on the epidermis of fifteen patients (12 families) suffering from lamellar ichthyosis. The effect of in vivo retinoid treatment on the involucrin epidermal expression was also investigated. Four cases with normal skin, seventeen cases of other ichthyoses and ten cases of psoriasis were used as controls. In all these cases of lamellar ichthyosis, a thin or absent cornified envelope, electron-dense granules inside corneocytes and a decrease of the epidermal involucrin expression were observed. In the patients receiving treatment with retinoids, western blot and ELISA revealed an increase in the involucrin expression.The decreased expression of involucrin in lamellar ichthyosis could contribute to the altered desquamation process accompanying the disease, since the clinical improvement associated with retinoid treatment is accompanied by an increase in the expression of involucrin.
URI: http://hdl.handle.net/10553/54225
ISSN: 1167-1122
Source: European Journal of Dermatology[ISSN 1167-1122],v. 9, p. 197-201
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