Vormittag W, Ensinger C, Raff M
Second Department of Internal Medicine, University of Vienna, Austria.
Clin Genet. 1992 Jun;41(6):309-14. doi: 10.1111/j.1399-0004.1992.tb03404.x.
Cytogenetic and dermatoglyphic investigations were performed in a mother (M.B.) and her daughter (D.B.), who were both suffering from hypomelanosis of Ito (incontinentia pigmenti achromians; HI). Whereas quite normal chromosomal results could be obtained after culture of peripheral lymphocytes, a diploid/tetraploid mosaicism (46,XX/92,XXXX) was found in cultured skin-fibroblasts derived from a hypopigmented skin area of M.B., with a slowly decreasing tetraploidy rate in the course of passaging: #2 23%, #5 11%, #11 and #14 6% and #18 and #21 2%. In cultures of normally pigmented skin, only single tetraploid cells could be detected. Dermatoglyphic examinations in both patients showed single transverse creases, a high number of secondary creases and a longitudinal alignment of the main line A bilaterally, and there was a tricentric fingertip pattern on the right digit III of M.B., i.e. a pattern which occurs very seldom in human beings. The results are discussed in respect to the clinical-diagnostic overlap of HI and incontinentia pigmenti Bloch-Sulzberger.
