Xeroderma pigmentosum-Cockayne syndrome complex

Xeroderma pigmentosum/Cockayne syndrome Complex is a progeroid syndrome characterized by cutaneous features of Xeroderma pigmentosum (XP) together with Systemic and neurological features of Cockayne syndrome (CS) that manifests during infancy with cutaneous UV-sensitive lesions that generally develop into Skin cancer, and characteristic CS manifestations such as microcephaly, hydrocephalus, cachexia, Premature aging, dwarfism, Skin atrophy, arteriosclerosis, Progressive hearing loss, Cognitive deficit, spasticity, ataxia, pigmentary retinopathy and Optic atrophy. Dysmyelination typical of CS is observed.

Organ Affected

  • Skin System (Integumentary System)
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