ASSOCIATION OF XERODERMA-PIGMENTOSUM WITH THROMBASTHENIA

Xeroderma pigmentosum (XP) is an autosomal recessive disorder characte rized by severe sun-sensitivity, early skin cancers and abnormal DNA r epair. XP has a worldwide distribution with an approximate frequency o f 1/250,000. It Is classified into nine complementation groups, and di stribution of patients among the various groups is related to ethnic o rigin. To our knowledge, the association of XP with thrombasthenia has not been reported perviously; here a 12-year-old girl with this combi nation is reported. She was first noted to have skin erythema on expos ure to sunlight at the age of six months and was diagnosed with XP. At the age of one she had the complaints of easy bruising and epistaxis. A diagnosis of thrombasthenia was made based on the absence of platel et aggregation response to ADP, collagen and adrenaline and reduced cl ot retraction. In clinical management, oral isotretinoin was given in order to supress tumor formation.