Bloch-Sulzberg syndrome

Synonyms: Incontinentia pigmenti, melanoblastosis Bloch-Sulzberg, Siemens-Bloch-Sulzberg syndrome, melanoblastosis cutis linearis sive systematica, naevus pigmentosus systematicus.

Named after Swiss dermatologist Bruno Bloch and American dermatologist Marion Baldur Sulzberg.^[1]

Genetics:

OMIM: 308300
The disease is caused by a mutation in the gene of IKBKG (NEMO) in the Xq28 region.
Inheritance: X-linked dominant, male lethal, variable expression in females (due to random X-chromosome inactivation).

Characteristics:

Deformation of teeth in a 3-year-old girl

cinnamon dirty symmetrical skin spots on the sides,
alopecia,
dystrophy nails,
defects of teeths,
corneal opacity,
microcephaly.

Links[edit | edit source]

References[edit | edit source]

↑ OLE DANIEL, Enersen. Whonamedeit - Bloch-Sulzberger pigment dermatosis [online]. [cit. 2011-04-25]. <http://www.whonamedit.com/synd.cfm/1762.html>.

References[edit | edit source]

LAZOVSKIS, Ilmars – DOBIÁŠ, Václav. Overview of clinical symptoms and syndromes. 2. edition. Praha : Avicenum, zdravotnické nakladatelství, 1990. 0 pp. ISBN 80-201-0043-1.

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[1] OLE DANIEL, Enersen. Whonamedeit - Bloch-Sulzberger pigment dermatosis [online]. [cit. 2011-04-25]. <http://www.whonamedit.com/synd.cfm/1762.html>.

[1]