Neonatal onset Cockayne syndrome: A rare photogenodermatosis

Abstract

Cockayne syndrome (CS) is a rare genodermatosis with autosomal recessive inheritance and around 180 cases have been reported worldwide. It results from mutation in genes ERCC8 and ERCC6 coding for proteins involved in transcription-coupled repair. It is characterized by profound growth retardation, microcephaly, neurodevelopmental impairment, photosensitive skin eruption, premature skin aging, disproportionate large hands, feet and ears, ocular defects, and extensive demyelination. It spans a phenotypic spectrum that includes classic (CS-I), rare severe form with onset from birth (CS-II) and late onset milder form (CS-III). Here, we report an infant with neonatal onset CS-II along with a brief review of the literature.

Keywords

• Cockayne syndrome
• growth failure
• mental retardation
• photosensitivity