A rare condition characterized mainly by increased sensitivity to sunlight, photophobia. Consists of repeated acute light erythemas with subsequent pigmentation, the formation of vascular tumours in the skin, and, in its final stage, multiple skin epitehliomas.
Long list of ocular symptoms in children. Neurological features in children may include microcephaly, mental retardation, choreoathetosis, sensorineural deafness, hyporeflexia or areflexia, and electroencephalographic and electromyographic abnormalities. It is due to an enzyme defect that prevents normal regeneration of DNA after sunlight. Occur in many races; both sexes affected; onset in first year, in early life (75 %), or later. Inheritance is autosomal recessive.
- Rudolf Virchow (editor):
Handbuch der speziellen Pathologie und Therapie.
1876, volume 2, page 182.
- M. Kaposi:
Xeroderma pigmentosum. Medizinische Jahrbücher, Wien, 1882: 619-633.