This website provides information on xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) patients with mutations in the XPD/ERCC2 gene, including clinical data, molecular data, management and research options.

XP, caused by mutations in the XPD gene, is a disorder characterized by sunburn sensitivity, skin pigmentation changes, multiple skin cancers on sun-exposed areas, neurological degeneration, developmental delay. TTD, caused by different mutations in the same gene, is an entirely different disorder, whose cardinal feature is sulphur-deficient brittle hair, associated with an unusual facies, ichthyosis, developmental delay, small stature and sunburn-sensitivity but no skin cancers.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the XPD gene.

Professor Alan Lehmann, University of Sussex, Brighton, UK, a.r.lehmann@sussex.ac.uk