Incontinentia pigmenti

The Bloch- Sulzberger syndrome, also under the synonyms of Bloch -Siemens syndrome, Incontinentia pigmenti, Melanoblastosis cutis and nevus Pigmentosus systematicus known, is a relatively rare hereditary complex specialty that is subject to an X-linked dominant inheritance. There is a clear Gynäkotropie because the syndrome in boys usually runs already prenatally fatal due to the lack of intact second X chromosome. In girls, it comes, however, has an abundance of average 1:10.000.

It manifests itself in numerous pigmented spots on the skin, disorders of nails, hair and teeth ( peg teeth, hypodontia ), and malformations of the central nervous system. The changes cause varying degrees growth disorders and disabilities. The girls and women often go blind and get epilepsy; For example, girls with Bloch- Sulzberger syndrome an above average risk of West syndrome have to develop ( BNS epilepsy).

The first descriptions of the features originate from the early 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 descriptions.

Scientists have presented a screening of 47 people with the syndrome in 2000, after which a mutation in the so-called NEMO gene ( NF- kappaB essential modulator ) causes the disease.