Lamellar ichthyosis (LI), considered an autosomal recessive monogenic genodermatosis, has an incidence of approximately 1 in 250,000. Usually associated with mutations in the transglutaminase gene ( ), mutations in TGM1 six other genes have, less frequently, been shown to be causative. Two siblings, born in a collodion membrane, presented with fish like scales all over the body. Karyotyping rev...

The association of Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase (EC 3.2.1.45), and congenital ichthyosis was first noted a decade ago. Subsequently, a null allele type 2 Gaucher mouse was generated that also exhibited ichthyotic skin, confirming that the skin disorder and enzyme deficiency were directly related. This paper details the clinical and molecular characte...

the inheritance of olmsted syndrome that is a very rare congenital with transgredient palmoplantar keratoderma is distinguished by the presence of massive hyperkeratosis with fissured skin and periorificial chaps. it usually appears during the early life and mostly in male pateints. herein we report a case of olmsted syndrome which is associated with ichthyosis and somatic type of delusion duri...

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Objective: Clear genotype-phenotype associations in ichthyosis have been difficult to establish. We aimed expand the genotypic and phenotypic spectra of delineate associations. Design: recruited an international group individuals with ichthyosis, including participants all ages, races, ethnicities. Genetic analysis saliva or blood, a phenotyping questionnaire, standardized clinical photographs ...