KEGG   DISEASE: Bullous congenital ichthyosiform erythroderma (BCIE)
Entry
H00691                      Disease                                
Name
Bullous congenital ichthyosiform erythroderma (BCIE);
Epidermolytic hyperkeratosis (EHK)
  Subgroup
Annular epidermolytic ichthyosis [DS:H02265]
  Supergrp
Congenital ichthyosis [DS:H01771]
Description
Bullous congenital ichthyosiform erythroderma (BCIE), also known as epidermolytic hyperkeratosis (EHK), is characterized by erythema and skin blistering of the newborn. The erythema is replaced with thick scaling later. Neonates with BCIE have higher risk of developing severe infection, such as sepsis.
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
    H00691  Bullous congenital ichthyosiform erythroderma (BCIE)
Pathway-based classification of diseases [BR:br08402]
 Cellular processes
  nt06545  Cornified envelope formation
   H00691  Bullous congenital ichthyosiform erythroderma (BCIE)
Pathway
hsa04382 Cornified envelope formation   
Network
nt06545 Cornified envelope formation
Gene
(EHK1) KRT1 [HSA:3848] [KO:K07605]
(EHK2A/2B) KRT10 [HSA:3858] [KO:K07604]
Other DBs
ICD-11: EC20.03
MeSH: D017488
OMIM: 113800 620150 620707
Reference
PMID:18571597
  Authors
Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L
  Title
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders.
  Journal
J Am Acad Dermatol 59:86-90 (2008)
DOI:10.1016/j.jaad.2008.02.031
Reference
PMID:12130905
  Authors
Siegel DH, Howard R
  Title
Molecular advances in genetic skin diseases.
  Journal
Curr Opin Pediatr 14:419-25 (2002)
DOI:10.1097/00008480-200208000-00011
Reference
PMID:15663649
  Authors
Lacz NL, Schwartz RA, Kihiczak G
  Title
Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event.
  Journal
Int J Dermatol 44:1-6 (2005)
DOI:10.1111/j.1365-4632.2004.02364.x
Reference
PMID:1380725 (EHK1 EHK2A)
  Authors
Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, Huber M, Frenk E, Hohl D, Roop DR
  Title
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
  Journal
Science 257:1128-30 (1992)
DOI:10.1126/science.257.5073.1128
Reference
PMID:16505000 (EHK2B)
  Authors
Muller FB, Huber M, Kinaciyan T, Hausser I, Schaffrath C, Krieg T, Hohl D, Korge BP, Arin MJ
  Title
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.
  Journal
Hum Mol Genet 15:1133-41 (2006)
DOI:10.1093/hmg/ddl028

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Disease (3)   
   OMIM (3)   
All databases (3)   

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