Late-onset Junctional Epidermolysis Bullosa

Description

Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood.

Clinical Features

Phenotypes and symptoms related to Late-onset Junctional Epidermolysis Bullosa

  • Nail dystrophy
  • Abnormal blistering of the skin
  • Atrophic scars
  • Palmoplantar hyperhidrosis
  • Adermatoglyphia

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Late-onset Junctional Epidermolysis Bullosa Is also known as eb progressive, jeb-lo.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Late-onset Junctional Epidermolysis Bullosa Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EBSeq Epidermolysis Bullosa Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
COL17A1 Gene Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

COL17A1
Specificity
100 %
Genes
100 %
COL17A1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

COL17A1
Specificity
100 %
Genes
100 %
EB (Epidermolysis Bullosa) Deletion/Duplication panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC
Specificity
5 %
Genes
100 %
COL17A1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

COL17A1
Specificity
100 %
Genes
100 %
COL17A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

COL17A1
Specificity
100 %
Genes
100 %
Epidermolysis bullosa junctional (sequence analysis of COL17A1 gene).

By CGC Genetics (Portugal).

COL17A1
Specificity
100 %
Genes
100 %
Epidermolysis bullosa (NGS panel for 18 genes).

By CGC Genetics (Portugal).

DST, FERMT1, COL17A1, COL7A1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PLEC
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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