Skin changes include atrophy, photosensitivity,
and hyperpigmentation and hypopigmentation. Skin cancer is the major cause
of morbidity in these patients, with basal cell and squamous cell carcinoma
being the most common tumors, presenting at a median age of approximately 8
years. The risk of developing a malignant melanoma is up to 2000-fold higher
than in a healthy person. Commonly, these skin tumors are multiple and do
not spare the eye. Interestingly, and sadly enough, patients also suffer
from a significantly higher incidence of other tumors. The most common
neurologic symptoms are mental retardation, spasticity, ataxia,
microcephaly, epilepsy, deafness, areflexia, and choreoathetosis. Other
signs include the eye abnormalities (photophobia, keratitis,
impaired vision), dwarfism, and gonadal hypoplasia.