Lesions caused by UV light are an important type of damage that cannot be repaired efficiently or at all in both conditions. XP is also autosomal recessive and, like CS, impairs DNA repair. In spite of impairments to DNA repair, CS patients do not develop cancer.

CS is associated with mutations in the genes CSA/ERCC8 or CSB/ERCC6, which have roles in DNA repair.

Average age at death has been estimated at 5, 16, and 31 years in severely, moderately, and mildly affected patients respectively. Life expectancy is affected, with more severely affected patients dying younger. It is characterized by photosensitivity, neurodegeneration, intellectual disability, joint contractures that may be severe enough to cause dislocations, hearing loss, and a variety of other problems.

Xeroderma pigmentosum-Cockayne syndrome complex (XP-CS) is a very rare neurodegenerative disorder that combines clinical features of xeroderma pigmentosum (XP) with those of Cockayne syndrome (CS).ĬS is an autosomal recessive multi-system degenerative disorder. Severely affected patients met fewer milestones and died at younger ages compared to more mildly affected patients. There is preliminary evidence for the existence of severity groups in XP-CS, as is the case in CS.Īlthough health problems in XP-CS vary both in severity and in when they the first occur, there was overall homogeneity between all complementation groups and putative severity groups. The cancer rate in XP-CS was higher than in CS without XP, an unsurprising finding. However, one intriguing finding was that cancer incidence was lower in XP-CS compared to XP alone or XP-neurological disorder. Overall, the clinical features of XP-CS are very similar to those of CS without XP, with the exception of skin cancers in XP-CS. Twenty-one were in the XP-G complementation group, 13 in XP-D, 5 in XP-B, and 3 in XP-F. There are four groups in XP-CS, and classification was available for 42 patients. XP patients are classified into complementation groups according to the gene that is mutated. Clinical features of each patient were summarized in spreadsheets and summary statistics were generated from this data.

The diagnosis had been confirmed with molecular or biochemical methods in 42 of them. We also drew on clinical practices used in XP and in Cockayne syndrome without XP to aid management of XP-CS.Įxtensive searches of the literature identified 43 XP-CS patients. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. Published information on XP-CS is mostly scattered throughout the literature. Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295 OMIM: 278730, 278760, 278780, 610651).

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