Bloch-Sulzberger syndrome

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Classification according to ICD-10
Q82.3 Incontinentia pigmenti
ICD-10 online (WHO version 2019)

The Bloch-Sulzberger syndrome , also under the synonyms Bloch-Siemens syndrome , incontinence pigmenti , Melanoblastosis cutis and nevus pigmentosus systematicus known is a relatively rare hereditary complex specialty that chromosomally X a dominant mode of inheritance is subject. There is a clear gynecotropia , since in boys the syndrome is usually fatal even before birth due to the missing intact second X chromosome. In girls, however, it occurs with an average frequency of 1: 10,000.

It manifests itself in numerous pigment spots on the skin, disorders of the fingernails, hair and teeth ( cone tooth , hypodontia , microdontia ), as well as malformations in the central nervous system . The changes cause stunted growth and disabilities to varying degrees . The girls and women often go blind and develop epilepsy ; z. For example, girls with Bloch-Sulzberger syndrome have an above-average risk of developing West syndrome (BNS epilepsy).

The first descriptions of the special features come from the beginning of the 20th century. The Zurich dermatologist Bruno Bloch (1878–1933) (published in 1926) and the New York dermatologist Marion Baldur Sulzberger (1895–1983) (published in 1928) have published detailed accounts.

In 2000, scientists presented a screening of 47 people with the syndrome, according to which a mutation in the so-called NEMO gene ( NF-KappaB essential modulator ) caused the disease.

Epidermolytic ichthyosis must be differentiated from a differential diagnosis.

Web links

Individual evidence

  1. ↑ Bloch B .: peculiar, previously not described pigment affection (Incontinentia pigmenti). In: Switzerland Med Wchschr . tape 56 , 1926, pp. 404-405 .
  2. ↑ Sulzberger MB .: About a previously unknown pigment affection (Incontinentia pigmenti). In: Arch Dermatol Syph (Berlin) . tape 154 , 1928, pp. 19-32 .
  3. ^ The International Incontinentia Pigmenti Consortium: Genomic rearrangement in NEMO impairs NF-kappa-B activation and is a cause of incontinentia pigmenti. In: Nature . tape 405 , 2000, pp. 466-472 .