objective autosomal recessive congenital ichthyosis (arci) is a rare, heterogenous keratinization disorder of the skin, classically divided into two clinical subtypes, lamellar ichthyosis (li) and nonbullous congenital ichthyosi-formis erythroderma (ncie). lamellar ichtyosis is caused by mutations in the tgm1 gene that encodes transglutaminase 1 enzyme, which is critical for the assembly of the...

Congenital ichthyosis is a group (almost 100 clinical variants) of rare genetic skin diseases caused by pathogenic changes in more than 50 genes. Clinical features ichthyosis, regardless its genotype, are dry skin, peeling, hyperkeratosis frequently accompanied with erythroderma. These patients have extremely low quality life due to appearance, discomfort itching and functional limitations (pai...

Sjogren-Larsson Syndrome (SLS) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We report a case of Sjogren-Larsson Syndrome with clinical profile (mental retardation, ichthyosis, spastic diplegia) and MRI findings such as seen in multiple sclerosis (MS). So this rare syndrome can be another differen...

References 1 Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol 2009; 129: 1319–1321. 2 Akiyama M, Takizawa Y, Kokaji T, et al. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. Br J Dermatol 2001; 144: 401–407. 3 Herman ML, Farasat S, Steinbach PJ, et al. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of...

Ichthyosis is a very heterogeneous family of skin disorders with harlequin ichthyosis being the most severe genetic form. It is a rare autosomal recessive condition, characterized by dry, severely thickened skin with large plates of hyperkeratotic scale, separated by deep fissures. Infants are very susceptible to metabolic abnormalities and infections. They usually do not survive for very long,...

Two days prior to the family conference, FIRST hosted its first-ever scientific meeting of international experts in ichthyosis research at the Regal Sun Resort. The Frontiers in Ichthyosis Research meeting agenda combined reports of recent progress in a few cutting-edge areas of ichthyosis research and frank discussion about how to efficiently and effectively move research forward. To have this...

INTRODUCTION Lamellar ichthyosis (collodion baby) is a cornification disorder classified under the category of autosomal recessive congenital ichthyosis and characterized by hyperkeratosis. Early-stage retinoid treatment has been shown to improve survival in these patients. In this article, a lamellar ichthyosis case is presented of an infant who had the symptoms at birth and was treated succes...