KEGG   DISEASE: Annular epidermolytic ichthyosis
Entry
H02265                      Disease                                
Name
Annular epidermolytic ichthyosis;
Cyclic ichthyosis with epidermolytic hyperkeratosis
  Supergrp
Bullous congenital ichthyosiform erythroderma (BCIE) [DS:H00691]
Congenital ichthyosis [DS:H01771]
Description
Annular epidermolytic ichthyosis (AEI), also known as cyclic ichthyosis with epidermolytic hyperkeratosis (CIEHK), is a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. AEI is an autosomal dominant disorder characterized by intermittent development of polycyclic, erythematous, scaly plaques on the trunk and proximal extremities. Mutations in keratin 10 or 1 have been identified in AEI.
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
    H02265  Annular epidermolytic ichthyosis
Gene
(AEI1) KRT10 [HSA:3858] [KO:K07604]
(AEI2) KRT1 [HSA:3848] [KO:K07605]
Other DBs
ICD-11: EC20.03
MeSH: C564367
OMIM: 607602 620148
Reference
PMID:25751346
  Authors
Jha A, Taneja J, Ramesh V, Singh A
  Title
Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma.
  Journal
Indian J Dermatol Venereol Leprol 81:194-7 (2015)
DOI:10.4103/0378-6323.152299
Reference
PMID:9036939 (AEI1)
  Authors
Joh GY, Traupe H, Metze D, Nashan D, Huber M, Hohl D, Longley MA, Rothnagel JA, Roop DR
  Title
A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.
  Journal
J Invest Dermatol 108:357-61 (1997)
DOI:10.1111/1523-1747.ep12286491
Reference
PMID:10053007 (AEI2)
  Authors
Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH
  Title
Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.
  Journal
Am J Hum Genet 64:732-8 (1999)
DOI:10.1086/302278
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