KEGG   DISEASE: Ichthyosis hystrix
Entry
H00707                      Disease                                
Name
Ichthyosis hystrix
  Subgroup
Ichthyosis hystrix, Curth-Macklin type (IHCM)
Ichthyosis hystrix, Lambert type (IHL)
Description
Ichthyosis hystrix is a rare autosomal dominant skin disorder characterized by spiky, verrucous hyperkeratosis of palms and soles. Diagnosis is supported by specific ultrastructural abnormalities such as perinuclear tonofibril shells of keratin intermediate filaments in binucleated suprabasal keratinocytes. It has been postulated that mutations in KRT1 result in a phenotype with the presence of palmoplantar keratoderma, the Curth-Macklin type (IHCM), while mutations in KRT10 cause the Lambert type (IHL), in which palmoplantar keratoderma is absent.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic or developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00707  Ichthyosis hystrix
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06545  Cornified envelope formation
   H00707  Ichthyosis hystrix
Pathway
hsa04382 Cornified envelope formation   
Network
nt06545 Cornified envelope formation
Gene
(IHCM) KRT1 [HSA:3848] [KO:K07605]
(IHL) KRT10 [HSA:3858] [KO:K07604]
Other DBs
ICD-11: EC20.03
MeSH: C536088 C536087
OMIM: 146590 146600
Reference
PMID:12603866
  Authors
Ishida-Yamamoto A, Richard G, Takahashi H, Iizuka H
  Title
In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin.
  Journal
J Invest Dermatol 120:498-500 (2003)
DOI:10.1046/j.1523-1747.2003.12064.x
Reference
PMID:12688839
  Authors
Smith F
  Title
The molecular genetics of keratin disorders.
  Journal
Am J Clin Dermatol 4:347-64 (2003)
DOI:10.2165/00128071-200304050-00005
Reference
PMID:21844476 (KRT1)
  Authors
Kubo Y, Urano Y, Matsuda R, Ishigami T, Murao K, Arase S, Ishida-Yamamoto A
  Title
Ichthyosis hystrix, Curth-Macklin type: a new sporadic case with a novel mutation of keratin 1.
  Journal
Arch Dermatol 147:999-1001 (2011)
DOI:10.1001/archdermatol.2011.217
Reference
PMID:29689068 (KRT1, KRT10)
  Authors
Terrinoni A, Didona B, Caporali S, Chillemi G, Lo Surdo A, Paradisi M, Annichiarico-Petruzzelli M, Candi E, Bernardini S, Melino G
  Title
Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.
  Journal
PLoS One 13:e0195792 (2018)
DOI:10.1371/journal.pone.0195792

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Disease (2)   
   OMIM (2)   
All databases (2)   

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