KEGG   DISEASE: H00645Help
Entry
H00645                      Disease                                

Name
Incontinentia pigmenti
Description
Incontinentia pigmenti is an X-linked dominant genodermatosis mostly affecting females. Cutaneous manifestations are present along the lines of Blaschko and are subdivided into four stages: vesicular, verrucous, hyperpigmented, and atrophic. Other tissues of ectodermal origin are also affected, showing hair abnormalities, dental anomalies, and ophthalmologic and neurologic alterations. Familial incontinentia pigmenti is caused by mutations in the NEMO gene.
Category
Skin and connective tissue disease
BRITE hierarchy
Pathway
MAPK signaling pathway
Chemokine signaling pathway
Apoptosis
Osteoclast differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
Adipocytokine signaling pathway
Gene
IKBKG [HSA:8517] [KO:K07210]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:21163160 (description)
  Authors
Jabbari A, Ralston J, Schaffer JV
  Title
Incontinentia pigmenti.
  Journal
Dermatol Online J 16:9 (2010)
Reference
PMID:12140463 (description, gene)
  Authors
Berlin AL, Paller AS, Chan LS
  Title
Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology.
  Journal
J Am Acad Dermatol 47:169-87; quiz 188-90 (2002)
Reference
PMID:15295921 (description, gene)
  Authors
Bruckner AL
  Title
Incontinentia pigmenti: a window to the role of NF-kappaB function.
  Journal
Semin Cutan Med Surg 23:116-24 (2004)

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