Lipoid proteinosis (hyalinosis cutis et mucosae) is a rare, autosomal recessive disease. Main clinicopathological features comprise skin and mucous membrane infiltration and scarring with deposition of hyaline material. Lipoid proteinosis (LP) results from pathogenic mutations in the glycoprotein extracellular matrix protein 1 (ECM1) gene. In this study, we describe two consanguineous Pakistani families suffering from lipoid proteinosis. The disease phenotype in both families was mapped to ECM1 locus on chromosome 1q21.2. The mutation screening of 10 exonic regions of ECM1 genes were amplified by using intronic forward and reverse primers. SSCP and direct DNA sequencing analysis of ECM1 revealed a novel homozygous 62bp insertion.

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