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01.12.2017 | Review | Ausgabe 1/2017 Open Access

Orphanet Journal of Rare Diseases 1/2017

Xeroderma pigmentosum-Cockayne syndrome complex

Orphanet Journal of Rare Diseases > Ausgabe 1/2017
Valerie Natale, Hayley Raquer
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Electronic supplementary material

The online version of this article (doi:10.​1186/​s13023-017-0616-2) contains supplementary material, which is available to authorized users.


Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. We also drew on clinical practices used in XP and in Cockayne syndrome without XP to aid management of XP-CS.
Extensive searches of the literature identified 43 XP-CS patients. The diagnosis had been confirmed with molecular or biochemical methods in 42 of them. Clinical features of each patient were summarized in spreadsheets and summary statistics were generated from this data. XP patients are classified into complementation groups according to the gene that is mutated. There are four groups in XP-CS, and classification was available for 42 patients. Twenty-one were in the XP-G complementation group, 13 in XP-D, 5 in XP-B, and 3 in XP-F. 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. However, one intriguing finding was that cancer incidence was lower in XP-CS compared to XP alone or XP-neurological disorder. The cancer rate in XP-CS was higher than in CS without XP, an unsurprising finding. There is preliminary evidence for the existence of severity groups in XP-CS, as is the case in CS.
Although 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. Severely affected patients met fewer milestones and died at younger ages compared to more mildly affected patients.
Additional file 1: Tables S1–S3. International designations, ethnic origins, and complementation groups of XP-CS patients analyzed in this review. (DOCX 31 kb)
Additional file 2: Bibliography 1. Bibliography of XP-CS patients analyzed in this review. (DOCX 76 kb)
Additional file 3: Bibliography 2. Bibliography of XP-F and XP-G patients identified in the literature. (DOCX 76 kb)
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