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Annular epidermolytic ichthyosis(AEI1; CIEHK1)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Epidermolytic Ichthyosis, Annular; Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
SNOMED CT: Annular epidermolytic ichthyosis (718631006)
Modes of inheritance:
Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Related genes: KRT10, KRT1
Monarch Initiative: MONDO:0011870
OMIM®: 148080; 607602
OMIM® Phenotypic series: PS607602
Orphanet: ORPHA281139


A rare clinical variant of epidermolytic ichthyosis, with manifestations of blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. It has been reported in less than 10 families. The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. Transmission is autosomal dominant. [from SNOMEDCT_US]

Clinical features

From HPO
Palmoplantar keratosis
MedGen UID:
Concept ID:
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
MedGen UID:
Concept ID:
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.
MedGen UID:
Concept ID:
Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Epidermolytic ichthyosis
MedGen UID:
Concept ID:
Disease or Syndrome
Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).\n\nAs affected individuals get older, blistering is less frequent, erythroderma becomes less evident, and the skin becomes thick (hyperkeratotic), especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. This thickened skin is usually darker than normal. Bacteria can grow in the thick skin, often causing a distinct odor.\n\nEpidermolytic hyperkeratosis can be categorized into two types. People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body. People with the other type, NPS-type, do not have extensive palmoplantar hyperkeratosis but do have hyperkeratosis on other areas of the body.\n\nEpidermolytic hyperkeratosis is part of a group of conditions called ichthyoses, which refers to the scaly skin seen in individuals with related disorders. However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in some of the other conditions in the group.
Abnormal hair morphology
MedGen UID:
Concept ID:
An abnormality of the hair.
Scaling skin
MedGen UID:
Concept ID:
Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.
Erythematous plaque
MedGen UID:
Concept ID:
A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.
Abnormality of the nail
MedGen UID:
Concept ID:
Anatomical Abnormality
Abnormality of the nail.
MedGen UID:
Concept ID:
Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.
MedGen UID:
Concept ID:
Formation of an anuclear keratin layer
Abnormal blistering of the skin
MedGen UID:
Concept ID:
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Skin erosion
MedGen UID:
Concept ID:
Disease or Syndrome
A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.
Flexural lichenification
MedGen UID:
Concept ID:
Disease or Syndrome
Lichenification affecting primarily flexural areas of the skin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Annular epidermolytic ichthyosis in Orphanet.

Recent clinical studies


Almuqarrab FJ, Alakloby OM, Alqahtani JM, Hennies HC
Am J Case Rep 2022 Feb 24;23:e935393. doi: 10.12659/AJCR.935393. PMID: 35202349Free PMC Article
Liang B, Yuan T, Zhou Y, Ding Y, Tang L, Wang F, Wang P, Li H, Zhang Y, Zhu M, Ji Y, Hong X, Zhang X, Zhu Q
Eur J Dermatol 2020 Jun 1;30(3):294-299. doi: 10.1684/ejd.2020.3764. PMID: 32666929
Mikilita ES, Hernandez IP, Boff AL, Kiszewski AE
An Bras Dermatol 2020 Jul-Aug;95(4):484-489. Epub 2020 May 5 doi: 10.1016/j.abd.2019.09.030. PMID: 32482553Free PMC Article
Zaki TD, Yoo KY, Kassardjian M, Choate KA
Pediatr Dermatol 2018 Nov;35(6):e414-e415. Epub 2018 Aug 28 doi: 10.1111/pde.13643. PMID: 30152556Free PMC Article
Akiyama M
J Dermatol Sci 1999 Sep;21(2):96-104. doi: 10.1016/s0923-1811(99)00024-9. PMID: 10511478


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

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