Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Pseudoxanthoma elasticum classification
Introduction
Overview
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
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]