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Ichthyosis, annular epidermolytic 1

MedGen UID:
1001602
Concept ID:
CN324065
Disease or Syndrome
Synonym: Ichthyosis, cyclic, with epidermolytic hyperkeratosis
 
Gene (location): KRT10 (17q21.2)
 
Monarch Initiative: MONDO:0100303
OMIM®: 607602

Definition

Annular epidermolytic ichthyosis-1 (AEI1) is characterized by the development of widespread erythematous blistering in the neonatal period or early childhood that subsides over time. Patients later show hyperkeratotic lichenified plaques over flexural and extensor surfaces, and experience episodic annular and polycyclic erythematous plaques over the trunk and proximal extremities (Joh et al., 1997; Suga et al., 1998). Genetic Heterogeneity of Annular epidermolytic ichthyosis AEI2 (620148) is caused by mutation in the KRT1 gene (139350) on chromosome 12q13. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

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
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
Erbey F, Cuhaci A, Incecik F, Noyan A, Altintaş DU, Tuncer I, Duran F
Turk J Pediatr 2005 Jan-Mar;47(1):63-6. PMID: 15884632

Prognosis

Erbey F, Cuhaci A, Incecik F, Noyan A, Altintaş DU, Tuncer I, Duran F
Turk J Pediatr 2005 Jan-Mar;47(1):63-6. PMID: 15884632
Terron-Kwiatkowski A, Paller AS, Compton J, Atherton DJ, McLean WH, Irvine AD
J Invest Dermatol 2002 Oct;119(4):966-71. doi: 10.1046/j.1523-1747.2002.00186.x. PMID: 12406346

Clinical prediction guides

Terron-Kwiatkowski A, Paller AS, Compton J, Atherton DJ, McLean WH, Irvine AD
J Invest Dermatol 2002 Oct;119(4):966-71. doi: 10.1046/j.1523-1747.2002.00186.x. PMID: 12406346

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