Pseudoxanthoma elasticum classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]

Overview

PXE can be classified into autosomal dominant and autosomal recessive forms. However, some sporadic cases with no family history of the disease have also been reported.

Classification

PXE can be classified into four types:

• Type 1 autosomal dominant - Features include: Thin skin which is delicate and bruises easily, accelerated atherosclerosis, mitral valve disease and severe angioid streaks.
• Type 2 autosomal dominant - Characterised by atypical, yellowish, flatter skin papules than in type 1, skin hyperelasticity, mild angioid streaks and blue sclera.
• Type 1 autosomal recessive - Commonest form. The skin changes are similar to the Type 1 Autosomal Dominant, mild vascular disease but frequent gastrointestinal bleeding and mild angioid streaks.
• Type 2 autosomal recessive - Very rare with severe skin changes but without systemic complications.

References

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