Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families

We report three babies from two families with a severe lethal form of congenital cutis laxa. All three had redundant and doughy-textured skin and two siblings from one family had facial dysmorphism. Echocardiograms showed thickened and poorly contractile hearts, arterial dilatation and tortuosity. Post-mortem examination in two of the babies further revealed widespread ectasia and tortuosity of medium and large sized arteries, myocardial hypertrophy, rib and skull fractures.

Citation:
McKenzie F, Mina K, Callewaert B, Beyens A, Dickinson JE, .... Baynam G. Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families. Clin Genet. 2021.

Keywords:
ARCL1 (autosomal recessive cutis laxa type 1); LOX; Lysyl oxidase; cutis laxa

Abstract:
We report three babies from two families with a severe lethal form of congenital cutis laxa. All three had redundant and doughy-textured skin and two siblings from one family had facial dysmorphism. Echocardiograms showed thickened and poorly contractile hearts, arterial dilatation and tortuosity. Post-mortem examination in two of the babies further revealed widespread ectasia and tortuosity of medium and large sized arteries, myocardial hypertrophy, rib and skull fractures.