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Incontinentia Pigmenti

Reference work entry

Bloch and Sulzberger, in 1926 and 1928, respectively (Bloch 1926; Sulzberger 1928), were credited for the first description of the clinical syndrome of incontinentia pigmenti (IP), known as Bloch–Sulzberger syndrome. It is a rare genodermatoses occurring in approximately 1 in 50,000 newborns (Aradhya et al. 2001).

Synonyms and Related Disorders

Bloch–Sulzberger Syndrome

Genetics/Basic Defects

  1. 1.
    Inheritance (Berlin et al. 2002).
    1. a.

      X-linked dominant transmission, usually prenatally lethal in males, suggested by pedigree analyses

       
    2. b.

      A high affected female/affected male ratio

       
    3. c.

      Instances of female-to-female transmission

       
    4. d.

      1:1:1 affected female/normal female/normal male ratio in the offspring of an affected mother

       
    5. e.

      Increased incidence of miscarriages in patients with incontinentia pigmenti, presumably representing affected male conceptuses that typically fail to survive past the second trimester

       
     
  2. 2.
    Female patients with IP mutations.
    1. a.

      Dizygosity for the X chromosome

       
    2. b.
      S...

Keywords

Club Foot Preimplantation Genetic Diagnosis Klinefelter Syndrome Molecular Genetic Testing Incontinentia Pigmenti 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

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