A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue: Gene Corner

J. O. Baek, H. Y. Lee, S. W. Oh, J. S. Lee, SooChan Kim, J. R. Lee, J. Y. Roh

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Epidermolysis bullosa simplex (EBS) is a group of inherited skin disorders characterized by lysis of basal keratinocytes leading to the development of intraepidermal blisters from mild trauma 1 EBS is known to be an autosomal dominant disorder; however, a few recessive cases have been reported. In EBS, the risk of cutaneous malignancy is not higher than in the normal population 2 We present a patient who showed generalized blistering after minor trauma followed by brownish reticulated hyperpigmentation and squamous cell carcinoma of the tongue. We identified a novel homozygous KRT14 mutation (E392X) inherited in an autosomal recessive fashion.

Original languageEnglish
Pages (from-to)880-882
Number of pages3
JournalBritish Journal of Dermatology
Volume162
Issue number4
DOIs
Publication statusPublished - 2010 Jan 1

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Epidermolysis Bullosa Simplex
Keratin-14
Tongue
Squamous Cell Carcinoma
Skin
Hyperpigmentation
Mutation
Wounds and Injuries
Blister
Keratinocytes
Genes
Population
Neoplasms
Autosomal Recessive Epidermolysis Bullosa Simplex

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

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abstract = "Epidermolysis bullosa simplex (EBS) is a group of inherited skin disorders characterized by lysis of basal keratinocytes leading to the development of intraepidermal blisters from mild trauma 1 EBS is known to be an autosomal dominant disorder; however, a few recessive cases have been reported. In EBS, the risk of cutaneous malignancy is not higher than in the normal population 2 We present a patient who showed generalized blistering after minor trauma followed by brownish reticulated hyperpigmentation and squamous cell carcinoma of the tongue. We identified a novel homozygous KRT14 mutation (E392X) inherited in an autosomal recessive fashion.",
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A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue : Gene Corner. / Baek, J. O.; Lee, H. Y.; Oh, S. W.; Lee, J. S.; Kim, SooChan; Lee, J. R.; Roh, J. Y.

In: British Journal of Dermatology, Vol. 162, No. 4, 01.01.2010, p. 880-882.

Research output: Contribution to journalArticle

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