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Cockayne syndrome-xeroderma pigmentosum complex with demyelination: A rare association
Singh, Usha Rani.; Asif, Shujaath; Kommu, Peter Prasanth Kumar. & D'Souza, Philomina
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.
Keywords
Xeroderma pigmentosum-cockayne syndrome (XP-CS), demyelination, facial phenotype
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