Diseases

Butterfly disease - epidermolysis bullosa


The so-called butterfly disease (Epidermolysis bullosa) does not have its name because those affected are as beautiful as a butterfly - rather, their skin is as sensitive "like the wings of a butterfly". With epidermolysis bullosa (EB), minimal stress tears wounds into the skin. EB is a rare group of diseases. Globally, 500,000 people suffer, one in 17,000. The cause is mutations in around 18 genes. They are genes that determine the structural proteins of the skin. These structural proteins ensure that the top layer of skin adheres to the one below. In the case of the butterfly disease, the layers of the skin cannot adhere to one another - this is why painful blisters are formed even with light touches. Sufferers suffer permanently from wounds in the skin that have to be cared for every day.

Butterfly Disease - Brief Overview

  • definition: "Butterfly disease", medical Epidermolysis bullosa (EB), describes a group of genetically caused diseases.
  • root cause: Approximately 18 genes are affected, which determine the structural proteins of the skin and ensure that the top layer of skin (epidermis) and the underlying layer adhere to one another.
  • consequences: Because these genes mutate, the layers of the skin cannot adhere to one another as they should, and this creates bubbles filled with liquid.
  • Symptoms: Depending on which of the genes are mutated and how, different forms of the disease develop, which differ in the severity of the symptoms. With weaker forms, the blisters heal without scars, bad variants destroy the skin, the mucous membranes in the throat and esophagus.
  • treatment: Since it is an inherited illness, treatment means primarily to alleviate the symptoms and to enable those affected to have a quality of life.
  • Chances of recovery: Successful transplantations of genetically intact skin made three affected people able to lead a largely normal life again and saved at least one boy from certain death.
  • State of research: As promising as this breakthrough in curing EB is, gene therapy with skin grafting is still at the very beginning.

Cause of epidermolysis bullosa

The causes of the forms of this disease are genetic defects. Each individual gene can show different mutations, which in turn lead to different clinical pictures. However, all of these mutations damage the anchor proteins in the skin that hold the skin layers together. In the case of weaker forms, this "adhesive" is not as strong as usual, in others it is completely lacking the necessary substances. Because liquid now penetrates the gap, bubbles form - as in healthy people, for example, due to pressure points in shoes.

In addition, there is great pain in those affected, even when lightly touching the skin. Scientists from the Max Delbrück Center for Molecular Medicine in Berlin, together with the EB network, the University of Cologne and the Center for Rare Diseases in Cologne, found the following through a study: The genetic defect leads to the affected person being affected by the protein laminin-332 cannot form. This slows down the forwarding of touch stimuli. The sick therefore feel touched much more strongly and more painfully than healthy people.

Butterfly disease - symptoms

Depending on the respective genetic defects, the disease develops differently. With some forms of EB, those affected have a normal life expectancy, with others they die shortly after birth. In the case of moderately severe forms, only a few exceed the age of 40.

In the case of weaker variants, the blisters heal without scars, in stronger or more pronounced cases scars remain and there are consequential problems. Toes and fingers can grow together and shaking hands becomes a pain. The same applies to brushing teeth if the oral mucous membranes are damaged. The consequences of this damage to the mucous membrane include tooth decay and tooth loss.

Common to these forms of the disease is that blisters form on the skin that itch and cause pain. Depending on the severity of the disease, these blisters lead to more or less large wounds and scars that look similar to those of burns. While the epidermis dissolves due to the heat during a burn, this happens in epidermolysis bullosa due to the missing putty.

How dangerous is epidermolysis bullosa?

Life with the blisters, wounds and pain is an ordeal. More severe forms of the disease can even be fatal. Why? On the one hand, blood poisoning can occur if the mucous membranes are affected, as well as infected wounds on the skin. Such sepsis leads to death in a few days if it is not treated quickly.

On the other hand, our largest organ, the skin, is the body's most important protective wall against infections, and it also stores moisture. Severe forms of EB have similar effects as large-scale burns. There are more or less foci of infection, depending on how badly the skin is destroyed, and those affected also lose a lot of moisture.

Forms of butterfly disease

There are two groups in epidermolysis bullosa (EB):

  • Nondystrophic epidermolysis
  • and dystrophic epidermolysis.

Nondystrophic epidermolysis

The nondystrophic epidermolysis is again divided into three subgroups, depending on whether they are

  • autosomal dominant,
  • autosomal recessive
  • or X-linked recessive

were inherited.

Autosomal dominant epidermolysis
This group of EB diseases is inherited in an autosomal dominant manner:

  • With Köbner's disease, those affected suffer from blistering from birth - as soon as they strain their hands, elbows, knees, heels or feet.
  • With Weber-Cockayne's disease, however, the blisters usually form in summer, from childhood or early adulthood. Most of the victims are boys. The blisters heal without leaving scars.
  • Geddedahl's disease is independent of the seasons, lasts a lifetime, and affects the hands and feet.
  • Finally, Dowling-Meara disease belongs to this group of butterfly diseases.

Autosomal recessive epidermolysis
This includes the Junctional epidermolysis bullosa (JEB), which in turn is divided into two forms, the Herlitz type (JEB-H) and the non-Herlitz type (JEB-nH). It has existed since birth. Here blood-containing blisters form on the skin, but also in the mouth and the bronchi.

This form is life-threatening because sooner or later it will lead to bacterial blood poisoning. The non-Herlitz type, on the other hand, does not affect the mucous membranes, here there are deformities on the skin and nails.

In the Epidermolysis progressiva the bubbles form in childhood. Symptoms include deformed nails, torn skin, and hearing loss in the inner ear.

X-chromosal recessive epidermolysis
The belongs to this subgroup Dystrophia bullosa hereditaria - Typus maculatus seu Amsterdam. Here it comes to

  • Loss of pigment,
  • Deformities on the nails,
  • Microcephaly (head too small),
  • Malformations of the cornea
  • and a blue coloring of the body attachments.

Furthermore, the skin is damp and cold and sometimes swollen like a dough. Impaired hair growth is also typical, with the consequence of a small number of hairs and bald spots on the head.

Dystrophic epidermolysis

Oh dystrophic epidermolysis is between autosomal dominant and
differentiated autosomal recessive forms of the disease.

Autosomal dominant epidermolysis
Here's the one for now Epidermolysis bullosa hereditaria dystrophica Pasini to call. In the area of ​​the lumbar vertebrae and sacrum and in the fold that divides the buttocks into the buttocks, white papules form in early childhood that grow slowly.

In the Epidermolysis bullosa hereditaria dominans At birth, blisters form on the acres and buttocks. In contrast to Weber-Cockayne's disease, for example, scars remain after healing. Erode mucous membranes and deformed nails.

Autosomal recessive epidermolysis
This last group of butterfly diseases is generally characterized by the fact that the blisters are as spontaneous as they are different. Typically, a so-called claw hand forms, a damage to the peripheral nerves that disrupts the connection to the short finger muscles. Those affected feel numbness in the little finger, on the little finger ball and on the outward side of the ring finger.

Everyday problems

A normal everyday life is associated with problems for those affected. Not only do they have to permanently protect their skin from any pressure, they also have to eat high calories and take vitamins and minerals. Because the body needs a lot of additional energy because it is constantly busy healing wounds. The blisters also lead to a lack of proteins, liquids and iron.

As if that weren't enough, some forms of EB mean that the sick can't eat a lot because their mucous membranes in the esophagus and intestines are damaged. You suffer from chronic constipation and have difficulty swallowing.

Treatment of the butterfly disease

Epidermolysis bullosa has genetic causes. Therefore, only the symptoms have been treated so far. Recently, however, genetically modified stem cells promise hope, but potential complications of this new therapy have not yet been researched.

Naturopathy and holistic medicine

Methods of naturopathy such as activating the body's self-healing powers through coordinated movements, sports, hydrotherapy (baths, washes), warmth (sauna, heating pad etc.), cold stimuli, medicinal plants (phytotherapy) can only - like other methods of evidence-based medicine - only certain Alleviate symptoms of this genetic disease.

Gene therapy heals epidermolysis bullosa in seven-year-olds

A seven-year-old boy, who suffered from a very serious form of the disease, came to the children's clinic at the University of Bochum in 2015. His skin was 60 percent destroyed. Normally, nothing would have been possible except palliative medicine to relieve the suffering until death.

The Italian doctor Michele de Luca offered a way out. In 2017, he caused a sensation with a contribution in the journal "Nature Medicine", because he had provided evidence that the skin cells mutated by the EB can be corrected by gene therapy.

As can be seen from the article, the affected skin cells were provided with a retrovirus that contains the healthy form of the mutated gene. Once this intact gene was in the cell, it was planted in the genome. The scientists then grew larger pieces of skin from the cells corrected in this way and transplanted them to the sick. In two cases the doctors had succeeded, but the boy's skin in Bochum had been destroyed on a much larger scale.

But it worked. The scientists cultivated genetically intact epidermis from a piece of skin just four centimeters square from the boy's leg - a total of 0.85 square meters. The little patient was in the intensive care unit with the transplanted skin for eight months, and then left the hospital in 2016.

Risks of gene therapy

One risk with such gene therapy is that the intact gene settles in places where it disrupts the regulation of the cell, which can trigger cancer. However, the three patients who had previously been rescued by healthy skin transplant did not develop tumors and the gene did not fit into the genome from which cancer developed. (Dr. Utz Anhalt)

Author and source information

This text corresponds to the specifications of the medical literature, medical guidelines and current studies and has been checked by medical doctors.

Swell:

  • Chiang, Li-Yang; Poole, Kate; Oliveira, Beatriz E .; Duarte, Neuza et al .: Laminin-332 coordinates mechanotransduction and growth cone bifurcation in sensory neurons, in: Nature Neuroscience, Volume 14: 993-1000, 2011, Nature Neuroscience
  • Max Delbrück Center for Molecular Medicine (MDC): Why patients with "butterfly disease" have extreme pain - MDC researchers discover causes, press release No. 25, July 4, 2011, MDC
  • De Luca, Michele et al .: Regeneration of the entire human epidermis by transgenic stem cells, in: Nature, 551 (7680): 327-332, November 2017, PMC
  • Nyström, Alexander; Bornert, Olivier; Kuehl, Tobias et al .: Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa, in: PNAS 115 (4) E705-E714, January 2018, PNAS
  • White, Hedwig; Prinz, Florian: Occupational Therapy in Epidermolysis bullosa: A holistic Concept for Intervention from Infancy to Adult, Springer, 2013
  • Lin, Andrew N .; Carter, D. Martin (ed.): Epidermolysis Bullosa Basic and Clinical Aspects, Springer Verlag, 1992
  • Fine, Jo-David; Hintner, Helmut (ed.): Life with Epidermolysis Bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy, Springer Verlag, 2008

ICD codes for this disease: Q81ICD codes are internationally valid encodings for medical diagnoses. You can find e.g. in doctor's letters or on disability certificates.


Video: Butterfly Children: Living With Extremely Fragile Skin. Full episode (January 2022).