IP
MCID: BLC003
MIFTS: 44

Bloch-Sulzberger Syndrome (IP) malady

Neuronal, Eye, Skin, Fetal, Genetic categories

Summaries for Bloch-Sulzberger Syndrome

Sources:
43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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NINDS:44 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: Bloch-Sulzberger Syndrome, also known as incontinentia pigmenti, is related to ectodermal dysplasia and klinefelter's syndrome, and has symptoms including anodontia/oligodontia/hypodontia, cutaneous rash and erythema/erythematous lesions/erythroderma/polymorphous erythema. 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 brain, cortex and skeletal muscle.

NIH Rare Diseases:43 Incontinentia pigmenti (ip) is a genetic condition affecting the skin and other body systems. skin symptoms change with time, beginning with a blistering rash in infancy, followed by wart-like skin growths, which then become swirled grey or brown patches in childhood, to swirled light patches in adulthood. other signs and symptoms may include hair loss, small or missing teeth, eye abnormalities that can lead to vision loss, and lined or pitted fingernails and toenails. most people with incontinentia pigmenti have normal intelligence, however some have delayed development, intellectual disability, seizures, or other neurological problems. ip is caused by mutations in the ikbkg gene. it is inherited in an x-linked dominant fashion. last updated: 4/18/2011

Genetics Home Reference:21 Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males.

Description from OMIM:47 308300

GeneReviews summary for i-p

Aliases & Classifications for Bloch-Sulzberger Syndrome

Sources:
8Disease Ontology, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 40NCIt, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Genetic
Anatomical: Neuronal, Eye, Skin


Characteristics (Orphanet epidemiological data):

49
incontinentia pigmenti:
Inheritance: X-linked dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

bloch-sulzberger syndrome 8 64 19 43 21 44 49
incontinentia pigmenti 8 64 19 43 20 22 21 44 45 49
ip 64 43 21
bloch-siemens syndrome 21 49
incontinentia pigmenti, familial male-lethal type 43
bloch-siemens-sulzberger syndrome 21
incontinentia pigmenti syndrome 8
incontinentia pigmenti, type ii 47
incontinentia pigmenti type 2 43
bloch sulzberger syndrome 61
ip2 43


External Ids:

Disease Ontology8 DOID:12305
MeSH35 D007184
NCIt40 C84787
OMIM47 308300
MESH via Orphanet36 D007184
ICD10 via Orphanet26 Q82.3
SNOMED-CT via Orphanet58 367520004
ICD1025 Q82.3

Related Diseases for Bloch-Sulzberger Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Bloch-Sulzberger Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia10.5
2klinefelter's syndrome10.4
3macular amyloidosis10.4
4hypohidrotic ectodermal dysplasia10.3
5encephalocele10.3
6neonatal herpes10.3
7alopecia10.3
8micro syndrome10.3
9char syndrome10.3
10congenital disorder of glycosylation, type ip10.3
11incontinentia pigmenti achromians10.3
12primary pulmonary hypertension10.2
13dyskeratosis congenita10.2
14skin atrophy10.2
15conversion disorder10.2
16osteopetrosis10.2
17birt-hogg-dube syndrome10.2
18primary cutaneous amyloidosis10.2
19familial melanoma10.2
20beckwith-wiedemann syndrome10.2
21acute disseminated encephalomyelitis10.2
22bronchitis10.2
23pyoderma gangrenosum10.2
24urticaria pigmentosa10.2
25anodontia10.2
26retinal vasculitis10.2
27vasculitis10.2
28birt–hogg–dubé syndrome10.2
29supernumerary nipples10.2
30norrie disease10.2
31atypical mole syndrome10.2
32chondrodysplasia10.2
33dowling-degos disease10.2
34hydrops fetalis10.2
35hansen's disease10.2
36leukomalacia10.2
37linear and whorled nevoid hypermelanosis10.2
38twenty-nail dystrophy10.2
39iris hypoplasia10.2
40birt-hogg-dub� syndrome10.2
41cerebral atrophy10.2
42hemihypertrophy10.2
43familial supernumerary nipples10.2
44acheiria10.2
45acheiria, unilateral10.2
46intestinal lymphangiectasia10.2
47primary intestinal lymphangiectasia10.2
48thalassemia10.2
49duchenne muscular dystrophy10.1
50arthritis10.1

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



Diseases related to bloch-sulzberger syndrome

Clinical Features for Bloch-Sulzberger Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

308300

Clinical synopsis from OMIM:

308300

Symptoms:

49 (show all 64)
  • anodontia/oligodontia/hypodontia
  • cutaneous rash
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • irregular/patchy skin hypopigmentation
  • irregular/in bands/reticular skin hyperpigmentation
  • telangiectasiae of the skin
  • warts/papillomas
  • hair and scalp anomalies
  • nails anomalies
  • abnormal fingernails
  • absent/small fingernails/anonychia of hands
  • x-linked dominant inheritance
  • corneal clouding/opacity/vascularisation
  • visual loss/blindness/amblyopia
  • strabismus/squint
  • cleft lip and palate
  • tooth shape anomaly
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • anomalies of ear and hearing
  • supernumerary nipples/polythelia
  • anomalies of the ribs
  • scoliosis
  • anomalies of hands
  • complete claw hand/camptodactyly of all fingers
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • hyperhidrosis/increased sweating
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • chronic skin infection/ulcerations/ulcers/cancrum
  • alopecia
  • abnormal gait
  • hyperactivity/attention deficit
  • osteolysis/osteoclasia/bone destruction/erosions
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • eosinophils anomalies/hypereosinophilia
  • short stature/dwarfism/nanism
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • blue sclerae
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • cataract/lens opacification
  • retinal detachment
  • retinal vascular anomalies/retinal telangiectasia
  • retinal/chorioretinal dysplasia/dystrophy
  • enamel anomaly
  • spina bifida occulta
  • umbilical hernia
  • hand agenesis/absence
  • syndactyly of fingers/interdigital palm
  • dysplastic/thick/grooved fingernails
  • abnormal toenails
  • dysplastic/thick/grooved toenails
  • pulmonary hypertension
  • heart/cardiac failure
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • transient cerebral ischemia/stroke
  • encephalitis
  • motor deficit/trouble
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability

Drugs & Therapeutics for Bloch-Sulzberger Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Bloch-Sulzberger Syndrome

Drug clinical trials:

Search ClinicalTrials for Bloch-Sulzberger Syndrome

Search NIH Clinical Center for Bloch-Sulzberger Syndrome

Search CenterWatch for Bloch-Sulzberger Syndrome

Genetic Tests for Bloch-Sulzberger Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Bloch-Sulzberger Syndrome:

id Genetic test Affiliating Genes
1 Incontinentia Pigmenti20 IKBKG
2 Incontinentia Pigmenti Syndrome22

Anatomical Context for Bloch-Sulzberger Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Bloch-Sulzberger Syndrome:

33
Brain, Cortex, Skeletal muscle, Skin

Animal Models for Bloch-Sulzberger Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Bloch-Sulzberger Syndrome

Sources:
51PubMed
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Articles related to Bloch-Sulzberger Syndrome:

(show all 44)
idTitleAuthorsYear
1
X-linked incontinentia pigmenti or Bloch-Sulzberger syndrome: a case report. (20676473)
2010
2
Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. (17569396)
2007
3
Incontinentia pigmenti (Bloch-Sulzberger syndrome) in neonates. (15998988)
2005
4
Particularities of clinic expression in a case of Bloch-Sulzberger syndrome. (16268899)
2005
5
General and dental characteristics of Bloch-Sulzberger syndrome. Review of literature and presentation of a case report. (12134130)
2002
6
Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome). (11185738)
2000
7
A pregnancy following PGD for X-linked dominant [correction of X-linked autosomal dominant] incontinentia pigmenti (Bloch-Sulzberger syndrome): case report. (11098039)
2000
8
Incontinentia pigmenti (Bloch-Sulzberger-syndrome): case report and differential diagnosisto related dermato-ocular syndromes. (9838260)
1999
9
Incontinentia pigmenti (Bloch-Sulzberger syndrome): report of case. (10476362)
1999
10
Bilateral macular lesions in incontinentia pigmenti. Bloch-Sulzberger syndrome. (8927808)
1996
11
Incontinentia pigmenti (Bloch-Sulzberger syndrome): multisystem disease observed in two generations. (8934072)
1996
12
Incontinentia pigmenti (Bloch-Sulzberger syndrome): report of a case and review of the Indian literature. (10829854)
1995
13
Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). (8233390)
1993
14
Incontinentia pigmenti (Bloch-Sulzberger syndrome). (8423608)
1993
15
Incontinentia pigmenti (Bloch-Sulzberger syndrome) manifesting as painful periungual and subungual tumours. (8294840)
1993
16
Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report. (8217891)
1993
17
Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report and review of the ocular pathological features. (1889027)
1991
18
Incontinentia pigmenti (Bloch-Sulzberger syndrome). A case report. (2052332)
1991
19
Incontinentia pigmenti (Bloch-Sulzberger syndrome): seven case reports from one family. (3115288)
1987
20
Incontinentia pigmenti (Bloch-Sulzberger syndrome) and retinal changes. (6689930)
1984
21
Incontinentia pigmenti. 6 cases of Bloch-Sulzberger syndrome. (6952894)
1982
22
Ocular findings in a case of incontinentia pigmenti (Bloch-Sulzberger syndrome). (7301285)
1981
23
Fundus changes in incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report. (708679)
1978
24
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
25
Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger. (844872)
1977
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

Genetic Variations for Bloch-Sulzberger Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Bloch-Sulzberger Syndrome:

63
id Symbol AA change Variation SNP ID
1IKBKGp.Met407ValVAR_009182
2IKBKGp.Glu57LysVAR_026491rs148695964
3IKBKGp.Arg123TrpVAR_026494rs179363895
4IKBKGp.Ala323ProVAR_042666rs179363865

Expression for genes affiliated with Bloch-Sulzberger Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bloch-Sulzberger Syndrome

Search GEO for disease gene expression data for Bloch-Sulzberger Syndrome.

Pathways for genes affiliated with Bloch-Sulzberger Syndrome

Compounds for genes affiliated with Bloch-Sulzberger Syndrome

GO Terms for genes affiliated with Bloch-Sulzberger Syndrome

Products for genes affiliated with Bloch-Sulzberger Syndrome

  • Antibodies
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  • Lysates
  • Antibodies

Sources for Bloch-Sulzberger Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet