CONGENITAL CUTIS LAXA AND LYSYL OXIDASE DEFICIENCY

We report two phenotypically similar patients with primary cutis laxa associated with deficiency of lysyl oxidase, an extracellular copper e nzyme the gene for which is located on chromosome 5. Previous reports of this condition have had characteristic occipital projections, abnor mality of copper metabolism and X-linked inheritance. The two reported patients have no occipital projections, normal copper metabolism, Wor mian bones, and a pattern of inheritance consistent with the autosomal recessive inheritance of the lysyl oxidase gene.