MCID: BLC003
MIFTS: 28

Bloch-Sulzberger Syndrome malady

Skin diseases category
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Summaries for Bloch-Sulzberger Syndrome

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NINDS:43 Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system. It is one of a group of gene-linked diseases known as neurocutaneous disorders. In most cases, IP is caused by mutations in a gene called NEMO (NF-kappaB essential modulator). Males are more severely affected than females. Discolored skin is caused by excessive deposits of melanin (normal skin pigment). Most newborns with IP will develop discolored skin within the first two weeks. The pigmentation involves the trunk and extremities, is slate-grey, blue or brown, and is distributed in irregular marbled or wavy lines. The discoloration fades with age. Neurological problems include loss of brain tissue (known as cerebral atrophy), the formation of small cavities in the central white matter of the brain, and the loss of neurons in the cerebellar cortex. About 20% of children with IP will have slow motor development, muscle weakness in one or both sides of the body, mental retardation, and seizures. They are also likely to have visual problems, including crossed eyes, cataracts, and severe visual loss. Dental problems are also common, including missing or peg-shaped teeth. A related disorder, incontinentia pigmenti achromians, features skin patterns of light, unpigmented swirls and streaks that are the reverse of IP. Associated neurological problems are similar.

MalaCards based summary: Bloch-Sulzberger Syndrome, also known as incontinentia pigmenti syndrome, is related to incontinentia pigmenti achromians and ectodermal dysplasia. An important gene associated with Bloch-Sulzberger Syndrome is IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma). Affiliated tissues include skin, eye and brain.

Description from OMIM:46 308300

Aliases & Classifications for Bloch-Sulzberger Syndrome

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Bloch-Sulzberger Syndrome, Aliases & Descriptions:

Name: Bloch-Sulzberger Syndrome 8 43
Incontinentia Pigmenti Syndrome 8 62
 
Bloch Sulzberger Syndrome 62
Incontinentia Pigmenti 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


External Ids:

Disease Ontology8 DOID:12305
MeSH34 D007184
NCIt39 C84787
OMIM46 308300

Related Diseases for Bloch-Sulzberger Syndrome

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Graphical network of the top 20 diseases related to Bloch-Sulzberger Syndrome:



Diseases related to bloch-sulzberger syndrome

Symptoms for Bloch-Sulzberger Syndrome

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Clinical features from OMIM:

308300

Drugs & Therapeutics for Bloch-Sulzberger Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Bloch-Sulzberger Syndrome

Genetic Tests for Bloch-Sulzberger Syndrome

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Anatomical Context for Bloch-Sulzberger Syndrome

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MalaCards organs/tissues related to Bloch-Sulzberger Syndrome:

32
Skin, Eye, Brain, Cortex

Animal Models for Bloch-Sulzberger Syndrome or affiliated genes

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Publications for Bloch-Sulzberger Syndrome

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Articles related to Bloch-Sulzberger Syndrome:

(show all 44)
idTitleAuthorsYear
1
Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis. (24937825)
2014
2
X-linked incontinentia pigmenti or Bloch-Sulzberger syndrome: a case report. (20676473)
2010
3
Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. (17569396)
2007
4
Incontinentia pigmenti (Bloch-Sulzberger syndrome) in neonates. (15998988)
2005
5
Particularities of clinic expression in a case of Bloch-Sulzberger syndrome. (16268899)
2005
6
General and dental characteristics of Bloch-Sulzberger syndrome. Review of literature and presentation of a case report. (12134130)
2002
7
Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome). (11185738)
2000
8
A pregnancy following PGD for X-linked dominant [correction of X-linked autosomal dominant] incontinentia pigmenti (Bloch-Sulzberger syndrome): case report. (11098039)
2000
9
Incontinentia pigmenti (Bloch-Sulzberger-syndrome): case report and differential diagnosisto related dermato-ocular syndromes. (9838260)
1999
10
Incontinentia pigmenti (Bloch-Sulzberger syndrome): report of case. (10476362)
1999
11
Bilateral macular lesions in incontinentia pigmenti. Bloch-Sulzberger syndrome. (8927808)
1996
12
Incontinentia pigmenti (Bloch-Sulzberger syndrome): multisystem disease observed in two generations. (8934072)
1996
13
Incontinentia pigmenti (Bloch-Sulzberger syndrome): report of a case and review of the Indian literature. (10829854)
1995
14
Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). (8233390)
1993
15
Incontinentia pigmenti (Bloch-Sulzberger syndrome). (8423608)
1993
16
Incontinentia pigmenti (Bloch-Sulzberger syndrome) manifesting as painful periungual and subungual tumours. (8294840)
1993
17
Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report. (8217891)
1993
18
Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report and review of the ocular pathological features. (1889027)
1991
19
Incontinentia pigmenti (Bloch-Sulzberger syndrome). A case report. (2052332)
1991
20
Incontinentia pigmenti (Bloch-Sulzberger syndrome): seven case reports from one family. (3115288)
1987
21
Incontinentia pigmenti (Bloch-Sulzberger syndrome) and retinal changes. (6689930)
1984
22
Incontinentia pigmenti. 6 cases of Bloch-Sulzberger syndrome. (6952894)
1982
23
Ocular findings in a case of incontinentia pigmenti (Bloch-Sulzberger syndrome). (7301285)
1981
24
Fundus changes in incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report. (708679)
1978
25
Encephalitis in two members of a family with incontinentia pigmenti (Bloch-Sulzberger syndrome). The possible role of inflammation in the pathogenesis of CNS involvement. (28229)
1978
26
Retinoblastoma in Bloch-Sulzberger syndrome. (958669)
1976
27
Incontinentia pigmenti (Bloch-Sulzberger syndrome) associated with acute granulocytic leukemia. (1059263)
1975
28
Incontinentia pigmenti (Bloch-Sulzberger syndrome). (4623670)
1972
29
Incontinentia pigmenti (Bloch-Sulzberger syndrome). A report of four additional cases. (5000498)
1971
30
An electron microscopical study of Bloch-Sulzberger syndrome (incontinentia pigmenti). (4103027)
1971
31
Incontinentia pigmenti (Bloch-Sulzberger syndrome). Report of a Negro infant with typical skin lesions, alopecia, and delayed atypical dentition. (5768511)
1969
32
Incontinentia pigmenti (Bloch-Sulzberger syndrome) with cerebral malformation. (5653080)
1968
33
Incontinentia pigmenti (Bloch-Sulzberger syndrome). A case report. (5244314)
1968
34
Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report with emphasis on dental manifestations. (4864182)
1967
35
Retrolental membrane associated with Bloch-Sulzberger syndrome (incontinentia pigmenti). (5952711)
1966
36
Bloch-Sulzberger Syndrome (incontinentia pigmenti). (4960353)
1966
37
THE BLOCH-SULZBERGER SYNDROME IN AN ENGLISH FAMILY. (14084651)
1963
38
Incontinentia pigment (Bloch-Sulzberger syndrome). Report of two cases. (13751929)
1961
39
The Bloch-Sulzberger syndrome (incontinentia pigmenti). (14428058)
1959
40
Incontinentia pigmenti (Bloch-Sulzberger syndrome); a generalized disease. (13626379)
1959
41
Fundus changes in incontinentia pigmenti (Bloch-Sulzberger syndrome). (13508798)
1958
42
Pigmentation in the Bloch-Sulzberger syndrome (incontinentia pigmenti). (13361491)
1956
43
Ocular changes in the Bloch-Sulzberger syndrome (Incontinentia pigmenti) (14378509)
1955
44
Incontinentia pigmenti; Bloch-Sulzberger syndrome. (13120280)
1953

Variations for Bloch-Sulzberger Syndrome

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Clinvar genetic disease variations for Bloch-Sulzberger Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1IKBKGNM_003639.4(IKBKG): c.1219A> G (p.Met407Val)single nucleotide variantPathogenicrs137853322GRCh37Chr X, 153792635: 153792635
2IKBKGNM_003639.4(IKBKG): c.184C> T (p.Arg62Ter)single nucleotide variantPathogenicrs137853323GRCh37Chr X, 153780401: 153780401

Expression for genes affiliated with Bloch-Sulzberger Syndrome

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Expression patterns in normal tissues for genes affiliated with Bloch-Sulzberger Syndrome

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Pathways for genes affiliated with Bloch-Sulzberger Syndrome

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Compounds for genes affiliated with Bloch-Sulzberger Syndrome

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GO Terms for genes affiliated with Bloch-Sulzberger Syndrome

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Products for genes affiliated with Bloch-Sulzberger Syndrome

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Sources for Bloch-Sulzberger Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet