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Annular epidermolytic ichthyosis(AEI1; CIEHK1)

MedGen UID:
334410
Concept ID:
C1843463
Disease or Syndrome
Synonym: Ichthyosis, cyclic, with epidermolytic hyperkeratosis
SNOMED CT: Annular epidermolytic ichthyosis (718631006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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

Definition

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:
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.
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.
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.
Bullous ichthyosiform erythroderma
MedGen UID:
38179
Concept ID:
C0079153
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:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.
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.
Erythematous plaque
MedGen UID:
568360
Concept ID:
C0332477
Finding
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:
163115
Concept ID:
C0853087
Anatomical Abnormality
Abnormality of the nail.
Hyperparakeratosis
MedGen UID:
473366
Concept ID:
C1265968
Finding
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.
Orthokeratosis
MedGen UID:
375169
Concept ID:
C1843359
Finding
Formation of an anuclear keratin layer
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.
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.
Flexural lichenification
MedGen UID:
870427
Concept ID:
C4024873
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

Diagnosis

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

Therapy

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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