Korean monozygotic twins with lethal acantholytic epidermolysis bullosa caused by two novel dsp mutations

Se Jin Kim, Jung Min Ko, Seung Han Shin, Ee Kyung Kim, Han Suk Kim, Kyunga Lee

Research output: Contribution to journalArticle

Abstract

Desmoplakin is an essential cytoplasmic plaque protein in desmosomes, and it is the major linker between intercellular junctions in the skin and heart. The role of desmoplakin is anchoring transmembrane cadherins to cytoplasmic intermediate filaments. The desmoplakin gene (DSP) is located on chromosome 6, and six common allelic disorders are associated with this gene, including autosomal-dominant or -recessive disorders that affect the skin, heart, hair, and nails. In particular, lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessively inherited and extremely rare genetic skin disorder, and only three molecularly confirmed families with LAEB have been reported previously. Generalized oozing erosion of the entire skin is the main clinical feature, which leads to excessive transcutaneous fluid loss and neonatal death. Histopathologically, this disorder is classified as a suprabasal subtype of epidermolysis bullosa simplex. In this study, we report for the first time in Korea on monozygotic twins with LAEB caused by two novel nonsense mutations in the DSP gene. Both of the twins exhibited severe and rapid progressive whole body skin erosion, and they died shortly after birth because of multiorgan failure followed by excessive fluid loss.

Original languageEnglish
Pages (from-to)213-216
Number of pages4
JournalAnnals of Clinical and Laboratory Science
Volume47
Issue number2
Publication statusPublished - 2017 Mar 1

Fingerprint

Desmoplakins
Monozygotic Twins
Skin
Mutation
Genes
Erosion
Epidermolysis Bullosa Simplex
Desmosomes
Nails
Inborn Genetic Diseases
Chromosomes, Human, Pair 6
Intercellular Junctions
Fluids
Intermediate Filaments
Nonsense Codon
Cadherins
Korea
Chromosomes
Cytoskeleton
Hair

All Science Journal Classification (ASJC) codes

  • Microbiology
  • Immunology and Allergy
  • Pathology and Forensic Medicine
  • Immunology
  • Molecular Biology
  • Hematology
  • Clinical Biochemistry
  • Medical Laboratory Technology

Cite this

Kim, Se Jin ; Ko, Jung Min ; Shin, Seung Han ; Kim, Ee Kyung ; Kim, Han Suk ; Lee, Kyunga. / Korean monozygotic twins with lethal acantholytic epidermolysis bullosa caused by two novel dsp mutations. In: Annals of Clinical and Laboratory Science. 2017 ; Vol. 47, No. 2. pp. 213-216.
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Korean monozygotic twins with lethal acantholytic epidermolysis bullosa caused by two novel dsp mutations. / Kim, Se Jin; Ko, Jung Min; Shin, Seung Han; Kim, Ee Kyung; Kim, Han Suk; Lee, Kyunga.

In: Annals of Clinical and Laboratory Science, Vol. 47, No. 2, 01.03.2017, p. 213-216.

Research output: Contribution to journalArticle

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