Epidermolysis bullosa

Classification according to ICD-10
Q81.9	Epidermolysis bullosa
ICD-10 online (WHO version 2019)

Epidermolysis bullosa ( EB ) is a genetic skin disease that is inherited as an autosomal - dominant or - recessive type, depending on the subtype. Affected people are known as butterfly children because their skin is as vulnerable as the wings of a butterfly. The cause is an innate mutation in certain genes whose gene products ( proteins ) etc. a. are necessary for the intact cellular structure of the skin. The mechanical connection between the different skin layers is inadequate, so depending on the subtype, blisters and wounds with possible scarring can develop (on and in the whole body, e.g. also the mouth ( microstomy ) and esophagus). The disease is also known colloquially as butterfly skin.

Iraqi boy with epidermolysis bullosa

to form

Since 1999, EB has been divided into three main forms according to expert consensus, which are listed in the table. The previously common classification based on molecular abnormalities was no longer considered sensible due to the pronounced genetic diversity.

Main shape	most common subtypes	mutated genes	Gene-encoded proteins
EB simplex (EBS)	EBS Weber-Cockayne EBS Koebner EBS Dowling Meara EBS with muscular dystrophy	KRT 5 and KRT 14 KRT 5 and KRT 14 KRT 5 and KRT 14 PLEC 1	Keratin 5 and 14 Keratin 5 and 14 Keratin 5 and 14 Plectin
EB junctionalis (EBJ)	EBJ Herlitz EBJ non-Herlitz EBJ with pyloric atresia	LAMB3, LAMC2, LAMA3 COL17A1, LAMB3, LAMC2, LAMA3 ITGA6, ITGB4	Laminin 5 collagen XVII, laminin 5 α6 β4 integrin
EB dystrophica (EBD)	EBD Hallopeau-Siemens EBD non-Hallopeau-Siemens Dominant EBD	COL7A1 COL7A1 COL7A1	Collagen VII Collagen VII Collagen VII

Epidermolysis Bullosa is not contagious, does not affect intelligence , but leads to more or less severe disabilities and can lead to premature death. Possible impairments and consequences are malnutrition, short stature, adhesions to the fingers and toes, tooth decay, hair loss, mobility impairment, skin cancer and pain.

There is an association with aplasia cutis congenita .

therapy

The treatment includes regular wound care (several times a day). There is currently no curative therapy.

The gene therapy is currently the only hope for a real cure. In 2013 there was a promising report from a patient who, through the transplantation of genetically modified skin cells, remained symptom-free, at least on the transplanted skin areas.

On November 8, 2017, the healing of an eight-year-old boy was reported in many media. The healing took place through pieces of epidermis obtained from genetically modified stem cells. On admission to the Bochum Children's Clinic, 60% of the skin no longer had a top layer of skin. In September 2015, 4 square centimeters of skin were removed from one of the areas without blisters and epidermal (i.e. the epidermis) stem cells were obtained from it. The genetic defect in these stem cells was eliminated by introducing a healthy variant of the LAMB3 gene with a virus into the genome. Pieces of epidermis were then grown from these cells in the laboratory, which the boy was given in October and November 2015 by the plastic surgeon Prof. Dr. Tobias Hirsch were transplanted on most of his body. In January 2016, epidermis was transplanted onto parts of the remaining untreated body area. Around 80% of his epidermis has been replaced. He was released from the hospital in February 2016 and went back to school in March. According to the researchers' report published in November 2017, the boy no longer has any itching, no blisters and does not need any ointment or medication. A gene therapy for this disease was already tried successfully in 2006, but on a much smaller scale, in a patient who had problems in one place on his leg.

literature

• C. Solovan, M. Ciolan, L. Olari: The biomolecular and ultrastructural basis of epidermolysis bullosa. In: Acta Dermatovenerol Alp Panonica Adriat. 2005 Dec; 14 (4), pp. 127-135. PMID 16435041

Web links

Commons : Epidermolysis Bullosa  - Collection of Images, Videos and Audio Files

Wiktionary: Butterfly disease  - explanations of meanings, word origins, synonyms, translations

• DEBRA Austria, help with epidermolysis bullosa
• DEBRA Germany, interest group Epidermolysis Bullosa e. V.
• DEBRA International, global epidermolysis bullosa self-help network

Individual evidence

1. ↑ DEBRA Austria: Butterfly Children , seen May 11, 2014.
2. ↑ DEBRA Germany, Interest Group Epidermolysis Bullosa e. V.
3. ↑ Hauke ​​Schumann, Gabriele Beljan, Leena Bruckner-Tuderman : Epidermolysis bullosa: an interdisciplinary challenge . In: Deutsches Ärzteblatt . (2001) 98, pp. A1559-A1563.
4. ↑ Laura De Rosa, Sonia Carulli, Fabienne Cocchiarella, Daniela Quaglino, Elena Enzo, Eleonora Franchini, Alberto Giannetti, Giorgio De Santis, Alessandra Recchia, Graziella Pellegrini , Michele De Luca : Long-Term Stability and Safety of Transgenic Cultured Epidermal Stem Cells in Gene Therapy of Junctional Epidermolysis Bullosa. In: Stem Cell Reports. Volume 2, No. 1, pp. 1-8, January 14, 2014, doi: 10.1016 / j.stemcr.2013.11.001 .
5. ↑ His new skin is free of the agonizing disease that nearly killed him . In: NBC News . ( nbcnews.com [accessed November 9, 2017]).
6. ↑ Butterfly child gets 80 percent new skin - science.ORF.at . In: science.ORF.at . November 8, 2017 ( orf.at [accessed November 9, 2017]).
7. ^ Ed Yong: A Dying Boy Gets a New, Gene-Corrected Skin . In: The Atlantic . ( theatlantic.com [accessed November 9, 2017]).
8. ↑ Tobias Hirsch, Tobias Rothoeft, Norbert Teig, Johann W. Bauer, Graziella Pellegrini: Regeneration of the entire human epidermis using transgenic stem cells . In: Nature . November 8, 2017, doi : 10.1038 / nature24487 .

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !