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Xeroderma pigmentosum-Cockayne syndrome complex

Disease definition

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).

ORPHA:220295

Classification level: Disorder
  • Synonym(s):
    • XP/CS complex
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • ICD-11: LD2B
  • OMIM: 278730  278760  278780  610651
  • UMLS: C4304411
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

Less than 30 cases have been described to date.

Clinical description

The disease manifests during infancy. Patients present with cutaneous UV-sensitive lesions that generally develop into skin cancer, and also develop 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. In contrast to the neurological abnormalities of XP which are predominantly secondary to neuronal degeneration, in XP/CS complex, dysmyelination typical of CS is observed.

Etiology

Affected individuals have mutations in one of three XP genes: ERCC3 (2q21), ERCC2 (19q13.3), or ERCC5 (13q22-q34). Recently, one patient with XP/CS complex and additional features of Fanconi anemia (see this term) was reported with a mutation in the ERCC4 gene (16p13.3).

Genetic counseling

Transmission is autosomal recessive and genetic counseling is possible.

Expert reviewer(s):  Dr Hiva FASSIHI - Last update: March 2014

  A summary on this disease is available in Deutsch (2014) Español (2014) Français (2014) Italiano (2014) Nederlands (2014) Português (2014) Polski (2014, pdf) Russian (2014, pdf)

Detailed information

General public

Guidelines

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.