Journal Basic Info

  • Impact Factor: 0.285**
  • H-Index: 6
  • ISSN: 2638-4558
  • DOI: 10.25107/2638-4558
**Impact Factor calculated based on Google Scholar Citations. Please contact us for any more details.

Major Scope

  •  Preventive Medicine
  •  Trauma
  •  Cardiovascular Medicine
  •  Child Birth
  •  Sleep Disorders & Sleep Studies
  •  Virology
  •  Epilepsy and Seizures
  •  Psychiatry

Abstract

Citation: Clin Case Rep Int. 2022;6(1):1408.DOI: 10.25107/2638-4558.1408

A De novo Mutation in KRT10 Gene in an Infant with Epidermolytic Hyperkeratotic

Guo L, Hu X, Mi R and Yang Y

Department of Neonatology, Capital Institute of Pediatrics, China

*Correspondance to: Ying Yang 

 PDF  Full Text Case Report | Open Access

Abstract:

Epidermolytic Hyperkeratosis (EHK) is a rare autosomal dominant genodermatosis and caused by mutations in KRT1 gen or KRT10 gene. The clinical features of EHK are erythroderma, scales, and formation of epidermal blisters at birth, and later the blistering and redness will be replaced by progressive hyperkeratosis in the stratum corneum mainly involving the flexion skin of the extremities, and with thick grayish brown scales. Besides the more than 120 mutations of KRT1 and KRT10 genes have been identified in EHK in Human Gene Mutation Database. It is a novel heterozygous missense variation (c.494G>C, p.R165P) in exon 1 of the KRT10 gene. Our finding will be benefit for early diagnosis of EHK and might lead to better treatment.

Keywords:

Epidermolytic hyperkeratosis; Infant; KRT10 mutation

Cite the Article:

Guo L, Hu X, Mi R and Yang Y. A De novo Mutation in KRT10 Gene in an Infant with Epidermolytic Hyperkeratotic. Clin Case Rep Int. 2022; 6: 1408.

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