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Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger

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Summary

We report a newborn with incontinentia pigmenti Bloch-Sulzberger and male phenotype. Chromosome analysis revealed a Klinefelter's syndrome 47,XXY. These findings are compatible with the hypothesis of dominant sexlinked genes carried on the X-chromosome in this disease.

Zusammenfassung

Wir berichten über ein neugeborenes Kind mit männlichem Phänotyp bei Incontinentia pigmenti Bloch-Sulzberger. Bei der klinischen Abklärung fand sich die Gonosomenaberration eines Klinefelter-Syndroms 47,XXY. Dieser Befund geht konform mit der Vermutung eines dominant X-gekoppelten Erbganges dieser seltenen Hauterkrankung.

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References

  • Bloch, B.: Eigentümliche, bisher nicht beschriebene Pigmentaffektion (Incontinentia pigmenti). Schw. Med. Wschr. 7, 404–405 (1926)

    Google Scholar 

  • Carney, R. G., Jr.: Incontinentia pigmenti. A world statistical analysis. Arch. Dermatol. 112, 535–542 (1976)

    Google Scholar 

  • Franceschetti, A., Jadassohn, W.: A propos de “l'incontinentia pigmenti”, délimitation de deux syndromes différents figurant sous le même terme. Dermatologica 108, 1–28 (1954)

    Google Scholar 

  • Griffiths, A., Payne, C.: Incontinentia pigmenti achromians. Arch. Dermatol. 111, 751–752 (1975)

    Google Scholar 

  • Happle, R., Krenz, J., Pfeiffer, R.: Das Ito-Syndrom (Incontinentia pigmenti achromians). Hautarzt 27, 286–290 (1976)

    Google Scholar 

  • Ito, M.: Studies on melanin: XI. Incontinentia pigmenti achromians, a singular case of nevus depigmentosus systematicus bilateralis. Tohoku J. Exp. Med. 55 (Suppl. 1), 57–59 (1952)

    Google Scholar 

  • Lenz, W.: Zur Genetik der Incontinentia pigmenti. Ann. paediat. 196, 149–165 (1961)

    Google Scholar 

  • Lenz, W.: Medizinische Genetik, p. 99. Stuttgart: Thieme 1976

    Google Scholar 

  • Mittwoch, U.: Frequency of drumsticks in normal woman and in patients with chromosomal abnormalities. Nature (Lond.) 201, 317–319 (1964)

    Google Scholar 

  • Naegeli, O.: Familiärer Chromatophorennävus. Schw. Med. Wschr. 57, 48–49 (1927)

    Google Scholar 

  • Pallisgaard, G.: Incontinentia pigmenti in a newborn boy. Acta derm.-venerol. 49, 197–201 (1969)

    Google Scholar 

  • Pfeiffer, R. A., Happle, R., Stupperich, G.: Das Syndrom von Ito (Incontinentia pigmenti achromians). Klin. Pädiat. 188, 181–185 (1976)

    Google Scholar 

  • Sulzberger, M. B.: Über eine bisher nicht beschriebene congenitale Pigmentanomalie (Incontinentia pigmenti). Arch. Derm. Syph. (Berl.) 154, 19–32 (1928)

    Google Scholar 

  • Tolksdorf, M.: Habilitationsschrift Kiel 1970

Download references

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Authors and Affiliations

  1. Medical School, Department of General Pediatrics, University of Kiel, Fröbelstraße 15-17, Kiel, Germany

    Jürgen Kunze, Elke Hüttig, Frank-Reiner Grosse & Hans-Rudolf Wiedemann

  2. Department of Dermatology, D-2300, Kiel-Hassee, Germany

    Ulrich H. Frenzel

Authors
  1. Jürgen Kunze
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  2. Ulrich H. Frenzel
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  3. Elke Hüttig
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  4. Frank-Reiner Grosse
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  5. Hans-Rudolf Wiedemann
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Kunze, J., Frenzel, U.H., Hüttig, E. et al. Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger. Hum Genet 35, 237–240 (1977). https://doi.org/10.1007/BF00393976

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  • DOI: https://doi.org/10.1007/BF00393976

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