Inheritance: autosomal recessive, with expression in homozygotes
Groups of clinical findings:
(1) skin changes in sun-exposed areas
(2) ophthalmologic changes affected the anterior portions of the eye
(3) neurologic abnormalities
(4) malignant neoplasms
Skin changes:
(1) atrophy with telangiectasia
(2) alternating areas of hyper- and hypopigmentation ("pigmentosum")
(3) freckles
(4) erythema and bullae in sun exposed areas
(5) scaling and dryness (xerosis; xeroderma = "parchment skin")
(6) benign skin lesions (actinic keratosis, angiomas, fibromas, keratoacanthomas)
Eye changes:
(1) atrophy with telangiectasia of eyelids
(2) conjunctivitis in sun-exposed areas with lacrimation and edema
(3) photophobia
(4) corneal defects (keratitis, corneal opacification and impaired vision)
Neurologic abnormalities:
(1) microcephaly
(2) reduced intelligence with progressive mental deterioration
(3) progressive sensorineural deafness
(4) decreased or absent deep tendon reflexes
(5) primary neuronal degeneration
Malignant tumors with a relatively early age at onset:
(1) malignant skin tumors (basal cell carcinoma, malignant melanomas, squamous cell carcinoma)
(2) malignant tumors of conjunctiva, cornea and eyelids
(3) other tumors (gastric, brain, lung, leukemia)
