Two Types of Autosomal Recessive Pseudoxanthoma Elasticum

Abstract

Recent clinical examination of 140 British patients with pseudoxanthoma elasticum (PXE) showed both autosomal and recessive inheritance. Fifty-seven recessive families were studied and showed two disease patterns. Patients with type 1 recessive PXE had flexurally distributed rash, moderately severe retinal disease, and a particular predisposition to gastrointestinal bleeding. Type 2 recessive disease is much rarer and affects the entire skin which is loose-fitting, lax, and extensively infiltrated with degenerated elastic fibers. Pooled data for these two groups clearly support an autosomal recessive pattern of inheritance.