Cockayne syndrome–xeroderma pigmentosum complex with demyelination: A rare association.

ABSTRACT

Xeroderma pigmentosum–Cockayne syndrome (XP–CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, short stature, and hypogonadism. XP–CS does not include skeletal involvement, the facial phenotype of CS, or CNS demyelination and calcifications. We present a rare patient whose genome probably harbored a specific combination of mutations producing a rare double syndrome of XP–CS, with facial phenotype of CS, and CNS demyelination.