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Ichthyosis, annular epidermolytic, 2(AEI2)

MedGen UID:
1824037
•Concept ID:
C5774264
•
Disease or Syndrome
Synonym: AEI2
 
Gene (location): KRT1 (12q13.13)
 
Monarch Initiative: MONDO:0859574
OMIM®: 620148

Definition

Annular epidermolytic ichthyosis-2 (AEI2) is characterized by erythema and blistering of skin at birth that improves without scarring, as well as palmoplantar keratoderma. Some patients experience intermittent severe flares of generalized annular and polycyclic erythematous scaling plaques (Sybert et al., 1999; Zaki et al., 2018). For a discussion of genetic heterogeneity of AEI, see AEI1 (607602). [from OMIM]

Clinical features

From HPO
Palmoplantar keratosis
MedGen UID:
44017
•Concept ID:
C0022596
•
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
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Palmoplantar keratoderma
MedGen UID:
1635750
•Concept ID:
C4551675
•
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
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Ichthyosis
MedGen UID:
7002
•Concept ID:
C0020757
•
Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
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Erythema
MedGen UID:
11999
•Concept ID:
C0041834
•
Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
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Scaling skin
MedGen UID:
472970
•Concept ID:
C0237849
•
Finding
Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.
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Orthokeratosis
MedGen UID:
375169
•Concept ID:
C1843359
•
Finding
Formation of an anuclear keratin layer
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Abnormal blistering of the skin
MedGen UID:
412159
•Concept ID:
C2132198
•
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
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Skin erosion
MedGen UID:
854383
•Concept ID:
C3887524
•
Disease or Syndrome
A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

The pathogenesis of severe congenital ichthyosis of the neonate.
Akiyama M
J Dermatol Sci 1999 Sep;21(2):96-104. doi: 10.1016/s0923-1811(99)00024-9. PMID: 10511478
A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.
Joh GY, Traupe H, Metze D, Nashan D, Huber M, Hohl D, Longley MA, Rothnagel JA, Roop DR
J Invest Dermatol 1997 Mar;108(3):357-61. doi: 10.1111/1523-1747.ep12286491. PMID: 9036939

Therapy

The expression of the 27-kd heat shock protein in keratinization disorders: an immunohistological study.
Jonak C, Metze D, Traupe H, Happle R, König A, Trautinger F
Hum Pathol 2005 Jun;36(6):686-93. doi: 10.1016/j.humpath.2005.04.009. PMID: 16021576

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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