H00691 | |
H number | H00691 |
Name | Bullous congenital ichthyosiform erythroderma (BCIE); Epidermolytic hyperkeratosis (EHK) |
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 |
Network | - |
Gene | (EHK1) KRT1 [HSA:3848] [KO:K07605] (EHK2) KRT10 [HSA:3858] [KO:K07604] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: EC20.03 ICD-10: Q80.3 MeSH: D017488 OMIM: 113800 620150 |
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 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 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 PMID:1380725 (EHK1 EHK2) 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 |