KEGG   DISEASE: Hypomelanosis of Ito
Entry
H00885                      Disease                                
Name
Hypomelanosis of Ito;
Pigmentary mosaicism
Description
Hypomelanosis of Ito is a neurocutaneous syndrome with hypopigmented whorls of skin along the Blaschko lines associated with other congenital defects of central nervous system, the eye, and skeletal system. The hypomelanotic lesions are present at birth or usually appear in the first year of life. Hypomelanosis of Ito includes many different states of chromosomal mosaicism.
Category
Skin disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC23  Genetic disorders of skin pigmentation
    H00885  Hypomelanosis of Ito
Gene
chromosomal mosaicism
Other DBs
ICD-11: EC23.2Y
MeSH: D010859
OMIM: 300337
Reference
  Authors
Passeron T, Mantoux F, Ortonne JP
  Title
Genetic disorders of pigmentation.
  Journal
Clin Dermatol 23:56-67 (2005)
DOI:10.1016/j.clindermatol.2004.09.013
Reference
  Authors
Torchia D
  Title
Mosaic pigmentation disorders and associated syndromes.
  Journal
J Dermatol 39:414-5 (2012)
DOI:10.1111/j.1346-8138.2011.01337.x
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