UV-sensitive syndrome type 2

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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.