Bloch-Sulzberger pigment dermatosis (Bruno Bloch)

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A complex congenital disturbance characterized by bizarre, widespread pigmented macules of unusual shapes and defects of teeth, eyes, nails, central nervous system and hair.

Description

A complex congenital disturbance that occurs almost exclusively in newborn girls (95 %), characterized by bizarre, widespread pigmented macules of unusual shapes; and defects of teeth, eyes, nails, central nervous system and hair. Long lists of other symptoms includes retarded growth and mental retardation. Inheritance is X-linked dominant. It is usually lethal in males, who are probably the result of spontaneous mutations.

The delineation of incontinentia pigmenti can be attributed to Sir Archibald Edward Garrod (1857-1936) who in 1906 wrote an account of a mentally retarded girl with tetraplegia and the characteristic skin pigmentation. In 1925 M. Bardach described the skin manifestations, as did Lechtleuthner that same year. Bloch in 1926 and Sulzberger in 1928 described a peculiar ectodermal and mesodermal defect that occurs in infants, characterized by a bullous eruption followed by pigmentation. In 1929 another publication appeared by Siemens, who in 1925 was the first to observe the case described by Lechtleuthner. In 1989 Sefiani and colleagues succeeded in assigning the locus of the faulty gene to band 28 of the long arm of the X-chromosome. An extensive review of the Bloch-Sulzberger syndrome was provided by Landy and Donnai in 1993.

Bruno Bloch describes his patient, a two year old girl: "The affection has been present since birth and has apparently not changed much since that time. The pigmentary changes are most pronounced on the lateral parts of the trunk, nearly symmetrical toward the midline anteriorly and posteriorly, forming irregular rings about the mammae, and from the right axillae out to the middle of the forearm, as well as irregular bands from the hips to the ankles. The colour of the affection is very distinctive, not a true brown as in pigmented nevi, but rather a dirty brown with a distinct tinge of slate grey, the margins a dirty light yellowish colour, especially on the back. The form of the pigment spots is most remarkable. They occur in completely irregular splashes and show figures with spidery projections such as have not heretofore been described in any pigment anomaly. The projecting arms of individual spots join with one another in various ways. The whole picture has something capricious and artificial about it, as if someone had painted completely irregular patterns on the skin."

Bibliography

  • A. E. Garrod:
    Peculiar pigmentation of the skin of an infant.
    Transactions of the Clinical Society of London, 1906, 39: 216.
  • M. Bardach:
    Systematisierte Nävusbildung bei einem eineiigen Zwillingspaar.
    Zeitschrift für Kinderheilkunde, Berlin, 1925, 39: 542-550.
  • B. Bloch:
    Eigentümliche, bisher nicht beschriebene Pigmentaffektion (incontinentia pigmenti). Schweizerische medizinische Wochenschrift, Basel, 1926, 56: 404-405.
  • M. B. Sulzberger:
    Über eine bisher nicht beschriebene kongenitale Pigmentanomalie (incontinentia pigmenti).
    Archiv für Dermatologie und Syphilis, Berlin, 1927, 154: 19-32.
  • H. W. Siemens:
    Die Melanosis corii degnerativa, eine neue Pigmentdermatose.
    Archiv für Dermatologie und Syphilis, Berlin, 1929, 157: 382.
  • G. Asboe-Hansen:
    Bullous keratogenous and pigmentary dermatitis with blood eosiniophilia in newborn girls: report of four cases.
    Archives of Dermatology and Syphilology, Chicago, 1953, 67: 152-157.
  • A. Sefiani, L. Abel, S. heuertz et al:
    The gene for incontinentia pigmenti is assigned to Xq28.
    Genomics, 1989, 4: 427-429.
  • S. J. Landy, D. Donnai:
    Incontinentio pigmenti (Bloch-Sulzberger syndrome).
    Journal of Medical Genetics, London, 1993, 30: 53-59.

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