INCONTINENTIA PIGMENTI - TRANSMISSION FROM FATHER TO DAUGHTER

Incontinentia pigmenti (IP) is a well-described genodermatosis that oc curs almost exclusively in females. IP is characterized by a distincti ve skin eruption and a variable presence of multisystem abnormalities. Pedigree analysis is most consistent with an X-linked dominant trait that is lethal in males. However, 27 reports of IP in males have been published, excluding four patients who had Klinefelter's syndrome. It has usually been assumed that these rare affected males survive becaus e of genetic mosaicism. Mosaic inheritance of IP is also strongly supp orted by the characteristic distribution of skin findings along Blasch ko's lines. Only one case of father-to-daughter transmission has been previously reported. We report a second case of father-to-daughter tra nsmission of IP. Chromosomal analysis of blood and fibroblasts from th e father failed to provide evidence of genetic mosaicism.