Ichthyosis, annular epidermolytic 1

Synonyms: Ichthyosis, cyclic, with epidermolytic hyperkeratosis

Summary

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]

Available tests

2 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (2 available)

Molecular Genetics Tests

Sequence analysis of the entire coding region (2)

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

KRT10
50 tests
Also known as: BCIE, BIE, CK10, EHK, EHK2, EHK2A, EHK2B, IHL, K10, KPP, KRT10
Summary: keratin 10

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