KEGG   DISEASE: Incontinentia pigmentiHelp
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
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00645  Incontinentia pigmenti
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00645  Incontinentia pigmenti
BRITE hierarchy
Pathway
hsa04010  MAPK signaling pathway
hsa04062  Chemokine signaling pathway
hsa04210  Apoptosis
hsa04380  Osteoclast differentiation
hsa04660  T cell receptor signaling pathway
hsa04662  B cell receptor signaling pathway
hsa04920  Adipocytokine signaling pathway
Gene
IKBKG [HSA:8517] [KO:K07210]
Other DBs
ICD-11: LD27.00
ICD-10: Q82.3
MeSH: D007184
OMIM: 308300
Reference
  Authors
Jabbari A, Ralston J, Schaffer JV
  Title
Incontinentia pigmenti.
  Journal
Dermatol Online J 16:9 (2010)
Reference
  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)
DOI:10.1067/mjd.2002.125949
Reference
  Authors
Bruckner AL
  Title
Incontinentia pigmenti: a window to the role of NF-kappaB function.
  Journal
Semin Cutan Med Surg 23:116-24 (2004)
DOI:10.1016/j.sder.2004.01.005

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