Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians).
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.
Vormittag
W
W
Second Department of Internal Medicine, University of Vienna, Austria.
Ensinger
C
C
Raff
M
M
D000328:Adult; D002478:Cells, Cultured; D002675:Child, Preschool; D003878:Dermatoglyphics; D003937:Diagnosis, Differential; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D007184:Incontinentia Pigmenti / Q000175:diagnosis / Q000235:genetics; D008214:Lymphocytes / Q000648:ultrastructure; D009030:Mosaicism / Q000235:genetics; D010859:Pigmentation Disorders / Q000175:diagnosis* / Q000235:genetics*; D011003:Ploidies; D012867:Skin / Q000166:cytology