XP: Minimising exposure to ultraviolet light by rigorous photoprotection with sunscreen and lip balm, protective clothing and ideally, UV-opaque face visor, will greatly reduce the skin problems. Windows in homes, car and schools should be covered with UV-resistant film. This will, however, result in the need for vitamin D supplementation. Ideally patients should be regularly viewed by dermatologist and ophthalmologist, so that pre-cancerous lesions can be removed at an early stage, as well as neurologist and neuropsychologist to arrange for hearing aids, physiotherapy and occupational therapy and to address psychosocial issues. There are support groups in many countries.
TTD: Care is best managed via a multidisciplinary team approach. This would include a specialist dermatological input to manage the ichthyotic skin, advise on UV protection where indicated and treatment of cataracts. Some children may require appropriately tailored nutritional support. In addition to routine blood tests and measurement of Vitamin D levels, close monitoring for the association of central osteosclerosis with peripheral osteopenia is advised and in particular for the sudden development of avascular necrosis of the femoral head.
XPD