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.
Pope FM. Two Types of Autosomal Recessive Pseudoxanthoma Elasticum. Arch Dermatol. 1974;110(2):209–212. doi:10.1001/archderm.1974.01630080011004
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