Fingerprint and palmar dermatoglyphics and creases were investigated in 60 patients (20 males and 40 females) with generalized neurofibromatosis. Like previous investigators, we found a significantly increased frequency of digital central pocket patterns. Furthermore, affected males and females had an increased frequency of monocentric whorls (P = 0.0037), higher quantitative values on digit II of both hands (P = 0.04), more often a reduction of main line C (P less than 0.05) with decreased frequencies of patterns in the 3rd and 4th interdigital area of the left hand (P less than 0.05), and a lower ab ridge count (males P less than 0.005; females P less than 0.001) than control individuals. On the right hand of males the frequency of high endings (5' or 5'') of line A was decreased (P less than 0.05). A significantly increased frequency of Sfl (Sydney line) was found in female patients (P less than 0.001). Male and female patients often showed a high number of secondary creases (P less than 0.001).

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‐Sulz‐berger.

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