What is PXE: Skin


Skin Lesions Example Image
Figure 1

PXE often causes visible changes in the skin. These changes vary from person to person. The earliest changes are usually in the skin on the sides of one's neck. Small lesions called papules may develop (see Figure 1).

They may resemble a rash or have a "cobblestone" appearance. These lesions in the skin can progress slowly and unpredictably, from the neck downward. With time, the lesions can come together to form plaques, and the skin becomes loose and wrinkly (see Figure 2).


Armpit Lesions Example Image
Figure 2

Skin signs of PXE can occur in young children. The areas of the body that are most affected are those which bend and flex. The neck, the underarms, the skin on the inside of the elbows, the groin, and the skin behind the knees may be progressively affected, leading to loose folds in these areas. Some of these changes may be alleviated by reconstructive or plastic surgery. Lesions may also appear on mucous membranes such as the inside of the lower lip or lining of the rectum or vagina but cause no symptoms or cosmetic abnormality.

It is possible to have PXE and not have any apparent skin lesions. In some individuals, careful examination of the skin by a dermatologist does not reveal any visible lesions, but a positive biopsy indicates the diagnosis of PXE.


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