UV-sensitive syndrome type 1

UV-sensitive syndrome type 1

A rare autosomal recessive disorder (OMIM:600630) characterised by photosensitivity, mild freckling hypopigmented spots, telangiectases, and slightly dried skin in sun-exposed areas (but no skin cancer or neurologic defects).

Molecular pathology
Defects of ERCC6, which encodes a protein involved in transcription-coupled nucleotide excision repair, cause UV-sensitive syndrome type 1