A patient with xeroderma pigmentosum may show a number of clinical findings many of which are related to the degree of exposure to ultraviolet (UV) light.


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)


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