Proteus syndrome
Background
Proteus syndrome is a rare disorder first identified in 1979 but with cases described in the literature since 1856.
The clinical features of Proteus syndrome are overgrowth/enlargement of
soft tissue and bone which can affect any area of the body but often
involving the hands and/or the feet, the skull and sometimes the whole
of one side of the body (hemihypertrophy) and blood vessel (vascular)
abnormalities. Superficial warty birthmarks (epidermal naevi), soft
deeper (subcutaneous) lumps, thickening of the skin on the soles and
bony problems, in particular, of the skull, hand/feet and curvature of
the spine may also be present.
The abnormalities seen in Proteus syndrome are present at birth but may become more apparent and develop with age. The clinical features described may not all be present in any one affected individual and the severity can vary widely. The nature of the varied complications of the disorder depend on the site and severity of the problem.