The ipsilateral kidney may also be involved, including agenesis. The cardiovascular malformations are the most common cause of early death. A case of bilateral involvement has been described. Roentgenographic examination of the head, trunk, and extremities are essential to detect any skeletal abnormalities. Echo-encephalogram is needed for examination of the ventricles.
Skin biopsies are necessary from involved and uninvolved skin areas.
The epidermis from involved skin shows marked acanthosis with alternating orthokeratosis and parakeratosis. There is also patchy hypergranulosis. A distinctive phenomenon of verruciform xanthoma, which is characterized by enlarged papillae filled with foamy histiocytes, has been reported when biopsies are obtained from body folds. On electron microscopy, the parakeratotic corneocytes and basal cells contain lipid vacuoles and numerous intercellular vesicular structures. Abnormal cementosomes with electron dense bodies have been also reported.