The first manifestation of PXE, and the one which almost always makes the diagnosis possible, is the appearance of highly characteristic, slightly thickened, cobblestone-like patches of skin. They most commonly first appear on the sides of the neck and later in other flexural areas (underarms, folds of arms, groins, behind the knees).

The skin changes first appear at an average age of 13 years with a range from age 2 years to about 20 years. In rare instances, the onset of skin lesions may be delayed until later in life but many such individuals probably have had small skin lesions for many years that were unrecognised as PXE.

In a few individuals, the skin involvement is so mild it may be thought to be lacking. However, very careful examination or a skin biopsy will almost always reveal PXE.

Skin lesions cause no medical problems in themselves but can be cosmetically objectionable if they become severe. Plastic surgery can help in some cases.

This photograph shows extensive, characteristic skin lesions on the neck of a middle aged lady.