Genetic aspects of angiokeratoma corporis diffusum

Abstract

Summary The genetic data on two new families with angiokeratoma corporis diffusum are recorded. The first pedigree extends over five generations. Six males are known to be affected in the three most recent generations, and possibly three more in the two previous ones. The mode of inheritance is consistent with a sex‐linked gene. This is confirmed by the occurrence of colour blindness and informative Xg a findings in one section of the family, suggesting that the angiokeratoma locus may lie between those for Xg and deutan. Prof. C. E. Dent kindly drew our attention to the original probands in family A and Prof. M. 1,. Rosenheim to the one in family B. We should like to thank Dr Ruth Sanger for carrying out the Xg a studies and for her comments on the results, and Mr D. P. Greaves for the ophthal‐mological assessments. Dr P. C. Farrant invited us to see case IV. 38 in family A and Prof. A. G. Watkins informed us about V. 16. We are also grateful to a number of other doctors and hospitals who have supplied us with additional information.