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Autosomal recessive epidermolytic ichthyosis

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: AREI; autosomal recessive epidermolytic ichthyosis
SNOMED CT: Autosomal recessive epidermolytic ichthyosis (890235002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Monarch Initiative: MONDO:0044742
Orphanet: ORPHA512103


A rare, inherited, non-syndromic ichthyosis characterized by congenital, generalized erythroderma with cutaneous blistering and erosions, resembling collodion presentation at birth, replaced by progressive hyperkeratosis later in life without palmoplantar involvement. The ultrastructural pathology consists of sparse keratin filaments and keratin clumps that show a nearly homogeneous, amorphous structure. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive epidermolytic ichthyosis

Professional guidelines


Clabbers J, van Oosten NV, Bolling M, Vreeburg M, van Geel M, Steijlen P, Gostynski A
Dermatology 2024;240(1):170-177. Epub 2023 Sep 4 doi: 10.1159/000533934. PMID: 37666225
Vahlquist A, Fischer J, Törmä H
Am J Clin Dermatol 2018 Feb;19(1):51-66. doi: 10.1007/s40257-017-0313-x. PMID: 28815464Free PMC Article
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Recent clinical studies


Covaciu C, Castori M, De Luca N, Ghirri P, Nannipieri A, Ragone G, Zambruno G, Castiglia D
Br J Dermatol 2010 Jun;162(6):1384-7. Epub 2010 Mar 10 doi: 10.1111/j.1365-2133.2010.09665.x. PMID: 20302579

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