Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Ichthyosis, annular epidermolytic, 2(AEI2)

MedGen UID:: 1824037
•Concept ID:: C5774264
•: Disease or Syndrome

Synonym:	AEI2

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

Orthokeratosis

MedGen UID:: 375169
•Concept ID:: C1843359
•: Finding

Formation of an anuclear keratin layer

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of limbs
- Palmoplantar keratoderma
- Palmoplantar keratosis
Abnormality of the integument

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAnnular epidermolytic ichthyosis
- CROGVIchthyosis, annular epidermolytic 1
- CROGVIchthyosis, annular epidermolytic, 2

Keratinopathic ichthyosis
- Annular epidermolytic ichthyosis
  - Ichthyosis, annular epidermolytic, 2

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

See all (2)

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

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Ichthyosis, annular epidermolytic, 2(AEI2)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Diagnosis

Therapy

Supplemental Content

Table of contents

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

Recent activity