UV-sensitive syndrome type 2
UV-sensitive syndrome type 2
A rare autosomal recessive disorder (OMIM:614621) characterised by photosensitivity and mild freckling hypopigmented spots, but no skin cancer or neurologic defects.Molecular pathology
Defects of ERCC8, which encodes a protein involved in transcription-coupled nucleotide excision repair, cause UV-sensitive syndrome type 2.