DNA Repair Disorders Service

Descriptions

DNA nucleotide excision repair (DNA) disorders include xeroderma pigmentosa (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). Xeroderma Pigmentosa (XP) service was commissioned as a HSS in 2010, the service specification was updated in 2018 to include the CS and TTD. These are rare inherited multi-organ disorders and patients have specific, complex and specialist needs. Although the underlying diseases are not curable, there is potential to significantly improve health and quality of life through a comprehensive, expert patient focused service. Many individuals with CS/TTD require photoprotection, have reduced mobility or are on supplemental feeds. The conditions are complex to diagnose and treat, and require input from: dermatology, dermatological surgery, paediatric neurology, adult neurology, ophthalmology, neuropsychology, clinical genetics, paediatric dentistry, psychology, dietetics, endocrinology, optometry, medical photography, audiology and palliative care.