KEGG   DISEASE: Ichthyosis with confetti
Entry
H00738                      Disease                                
Name
Ichthyosis with confetti;
Congenital reticular ichthyosiform erythroderma;
Ichthyosis variegata
Description
Ichthyosis with confetti (IWC) is a rare and severe skin disease characterized by erythroderma, prominent scaling, and palmoplantar keratoderma. Patients develop numerous pale confetti-like white patches on red skin.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00738  Ichthyosis with confetti
Gene
KRT10 [HSA:3858] [KO:K07604]
Other DBs
ICD-11: EC20.0Y
OMIM: 609165
Reference
PMID:20798280
  Authors
Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP
  Title
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.
  Journal
Science 330:94-7 (2010)
DOI:10.1126/science.1192280
Reference
PMID:21929535
  Authors
Burger B, Spoerri I, Schubert M, Has C, Itin PH
  Title
Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation.
  Journal
Br J Dermatol 166:434-9 (2012)
DOI:10.1111/j.1365-2133.2011.10639.x
Reference
PMID:9028791
  Authors
Corden LD, McLean WH
  Title
Human keratin diseases: hereditary fragility of specific epithelial tissues.
  Journal
Exp Dermatol 5:297-307 (1996)
DOI:10.1111/j.1600-0625.1996.tb00133.x

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (6)   

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