Bullosa epidermolysis: butterfly children, how manylive, symptoms, treatment

Update: October 2018 Human skin is important
anatomical structure and plays a huge role in his life. Skin
integuments protect the body from infection, injury,
hypothermia and overheating, is involved in the regulation of water and
mineral metabolism and more. But with the development of skin
diseases affects not only the skin, but also the body as a whole.
Such a pathology as bullosa is especially difficult.
epidermolysis. This disease is very difficult with
lack of proper patient care and difficult treatment.

What is this disease

ATрожденный буллезный эпидермолиз включает в себя целую группу
diseases (more than 30 forms), which are united by one name.
A common symptom of these diseases is the appearance of blistering on the skin during
the slightest mechanical injury. This pathology is also called
butterfly disease, but not from the fact that wings grow in patients
children, and from their characteristic excessive fragility and vulnerability
integuments (in butterfly it is easy to damage the wings). AT механизме
the emergence of bubbles lies the shift between the upper and lower layers
skin. To call a disease with this term suggested a German doctor –
dermatologist Heinrich Koebner. A group of these diseases genetically
is deterministic and can be inherited by autosomal recessive and
by an autosomal dominant type, it has been proven that mutations affect
more than 10 genes.

Epidemiology

Epidemic epidermolysis bullosa disease
70 (total 85) subjects of the Russian Federation. Its frequency is 0 – 19, 73
cases per 1,000,000 population. AT России заболеваемость буллезным
epidermolysis reaches 1:50 thousand – 1: 300 thousand of the population.

Pathology researchers have found that in many countries of the world in
structure of the disease is dominated by simple epidermolysis bullosa, and in
некоторых странах – дистрофический буллезный epidermolysis. Sexual
differences for this pathology are not characteristic. It is noted that among
registered patients are dominated by children and adolescents, which
associated with high mortality of such patients.

The reasons

AT норме слои кожи человека скрепляются между собой различными по
composition of substances. AT основе развития данной патологии лежит дефект
attachment between the epidermis (superficial skin) and dermis
(deeper layer). The development of the disease is due to gene
mutations in those genes that are responsible for the synthesis of structural
skin proteins – providing a mechanism of attachment between its different
in layers. To date, more than 1000 mutations have been detected in 15
genes of skin structural proteins that give rise to
различных форм буллезного epidermolysis. Mutations cause disturbance
protein formation: complete lack of protein, production
inferior protein that is not able to “glue” the layers of the skin,
protein synthesis with a broken structure, which is why proteases (enzymes,
destructive proteins) get easy access to protein. In this way
it becomes clear that the causes of pathology are gene
violations and the disease is inherited.

In the simple form of the disease, mutations are present in the genes:
KRT5, KRT14, RKR -1, PLEC, ITGA6, ITGB4. In this form
defective proteins in the surface layer of the skin (in keratinocytes):
desmoplakin, keratin 5 and 14, plectin and others, for which
affected by proteases that are released by mechanical
effects on the skin, which leads to the formation of bubbles.

Mutations in the genes LAMB3, LAMA3, COL7A1 and several others cause
defect in the formation of proteins of the basement membrane (lower layer
epidermis): laminin 332, collagen 17, integrin and lead to
development of the borderline form of the epidermis. This form is in addition to
blistering is characterized by excessive fragility
skin and more severe course.

Dystrophic form of the disease develops with mutations in the gene
COL7A1, which is responsible for the synthesis of Kindlin and collagen 17 and
располагается в соединительнотканных волокнах skin. Reduction
the formation of these proteins is not only easy education
blistering and erosive, but also leads to damage to other organs
(mucosa of the respiratory system and gastrointestinal tract, joint contractures).
Dystrophic form of the disease is difficult, with the formation of
rough scars on the skin, which often occur malignant
education.

Classification

Today, there are many varieties
diseases and attempts are made to classify them into
certain types. There are many classifications that
makes even bullous researchers get confused
epidermolysis. The most modern classification of this pathology,
used by dermatologists includes 4 basic forms (type)
epidermolysis bullosa, each of which is divided into subtypes:

  • Simple epidermolysis bullosa

This type of disease includes 12 subtypes. Level on
which forms the bubble – intraepidermal layer. The most
распространенными подтипами выступают: синдром ATебера-Коккейна,
Koebner syndrome, Dowling-Meara syndrome. Inheritance of this type
autosomal dominant and autosomal recessive occurs. Bubbles
are formed intraepidermal and subepidermal – proteins are affected
epidermis.

  • Border epidermolysis bullosa

ATключает 2 подтипа, в одном из которых имеется 6 самостоятельных
forms. The level of formation of the bubble – light plate of the basal
мембраны epidermis. The most severe form of this type is
subtype Gerlitz, the mortality rate at which is very high. because of
the formation of bubbles at the level of the bright plate this form
получила название «пограничный» epidermolysis.

  • Dystrophic epidermolysis bullosa

Divided into 2 subtypes, depending on the mechanism of inheritance.
(dominant or recessive). Dominant is more common. AT
recessive subtype of dystrophic epidermolysis includes several
форм, одна из которых самая тяжелая – подтип Allopo-Siemens.
The level of blistering – the papillary layer of the dermis, which causes
the formation of long-term healing erosions and the appearance of rough
scars.

  • Kindler syndrome

This form is also called mixed epidermolysis, it is considered
rare and poorly understood. The peculiarity of this type is the formation
bubbles in the epidermis, and in the dermis, and at the level of light
records

Clinical picture

ATедущим клиническим признаком заболевания при любой его форме
is the occurrence of bubbles in response to minor
mechanical trauma. Simple epidermolysis subtypes are characterized by
the formation of hemispherical, intense and filled with liquid
bubbles that form in places of friction / injury.
Border and dystrophic forms are accompanied by the formation of
sluggish, with folds of tire that sags under weight
fluid. Такие пузыри легко вскрываются и are formed не только в
areas of injury, but also in zones of stretching (groin folds and
axillary, in the neck). With any type of pathology can
multiple bubbles and erosion that take hold
большую площадь skin. Erosions are characterized by long-term healing with
any kind of disease.

Simple form of the disease

Localization of blisters on the feet and hands, and in case of severe
the course of the pathology affects the entire skin of the patient. If the disease
flows easily, the blisters heal, leaving no scars. Simple
the form is divided into 2 large subtypes: localized and
generalized.

Локализованный простой БЭ или синдром ATебера-Коккейна
characterized by the formation of bubbles on the palms and feet, and
exacerbation of the disease occurs in the summer when it rises
the risk of skin trauma and increased sweating. The older
the child becomes, the less bubbles are formed.

Generalized simple BE or Dowling-Meara syndrome is different.
severe and characterized by the formation of bubbles in
newborns immediately after birth. Disease progression
it is celebrated for about a year, then the process stabilizes and with time
improvement is noted until blistering ceases
либо их редкого education. Often these blisters are filled with pus and
covered with layered yellowish crusts. After the bubbles
disappear in places of their localization is noted resistant
pigmentation.

To additional features of simple generalized BE
relate:

  • constipation;
  • anal fissures;
  • hyperkeratosis;
  • mucosal damage;
  • difficulty breathing;
  • nail dystrophy and finger fusion;
  • heart disease;
  • esophageal reflux;
  • the formation of miles (white nodules);
  • signs of anemia (pallor and weakness, dizziness);
  • basal cell skin cancer (in adults).

Dystrophic form of the disease

The dystrophic form can be inherited recessively or
dominantly. This is the heaviest subgroup of BE, as it is damaged
deep layer of the dermis then blistering occurs with
the formation of coarse scars. Almost always with dystrophic form
diseases affect mucous membranes. Characteristic and most severe
подтипом дистрофической формы является синдром Allopo-Siemens.
Manifestations of the disease are already visible from birth, and many
newborns are born with a complete lack of epidermis on
limbs. Especially hard pathology occurs in the early years.
There is a slow epithelialization of erosion, up to several
months. Characteristically, the older the child, the worse the process
healing. The formation of coarse scars leads to the formation of
contracture and fusion of fingers, which further blocks the growth and
development of hands / feet. Similar cicatricial changes lead to
difficulties of self-service and movement. Mucosal affection with
the formation of erosion in labor ends with scarring and
the formation of microstomy (narrowing of the mouth), short
frenulum of tongue, defect of speech. Scarring of erosions in the pharynx / esophagus
leads to the formation of obstruction and narrowing of the esophagus, difficulties
swallowing. Healing of erosions in the rectum disrupts defecation.
Also, patients are prone to caries and they often have anomalies.
the location of the teeth, up to the full of loss.

Border form of the disease

The most severe subtype is Gerlitz syndrome, for which
characterized by the formation and rapid spread of lethargic and
multiple bubbles that almost immediately explode. Excess
the proliferation of granulation tissue leads to the formation of granulations
around the mouth and nails that arise in the first days of life
baby Also, the child is accompanied by skin aplasia (lack of part
skin on the hairy covering of the head), nail defect and hoarseness
voices, problems with teeth. Healing of erosion is also accompanied
the formation of coarse scars. Other symptoms (non-skin): delay
growth and mental development of the child, impaired breathing, anemia,
problems with the lungs (pneumonia) and the digestive tract
(gastroenteritis) and the development of sepsis. Mortality in syndrome
Gerlitz is very high, the child dies from respiratory
deficiency (formation of a bubble on the respiratory mucosa
pathways), sepsis or dystrophy.

Kindler syndrome

This form is characterized by the occurrence of common
bubble formations already to birth, photosensitivity and
Thinned, crumpled skin. Non-dermal symptoms manifest as
acute colitis, esophagitis, narrowing of the urethra,
century inversion. Teeth remain in order.

Life expectancy of patients

How long do babies live? Answer this question clearly
is difficult. Life expectancy of patients с буллезным
epidermolysis is directly proportional to the form of the disease, the degree
damage to the structure of genes, the depth of skin damage and overall
child status. Unfortunately, to mature age, such patients
live rarely, and in the first place it is connected with the care of them,
which requires a lot of effort, patience and courage. Children with heavy
generalized forms of the disease live only a few years and
die in the preschool years, for example, Gerlitz syndrome or
Allopo-Siemens. Light forms, especially simple BE may
time to enter a stable remission, and the formation of bubbles
only with trauma to the skin.

Diagnostics

The diagnosis of this disease is made on the basis of data collection.
history and complaints, a general examination of the patient and confirmed
laboratory tests. For laboratory analysis is necessary
to conduct a histological study of a skin area taken from
where the fresh bubble is located. Histological
the analysis allows to identify the subepidermal cavity, but is powerless in
determining the type of epidermolysis bullosa. To this end, held
research using the method of indirect immunofluorescence (NRIF)
or transmission electron microscopy:

  • A skin biopsy that is examined with the help of the NRIF allows
    establish the presence, reduction or absence of protein synthesis
    skin. In addition, the NRIF helps to determine the level of skin damage.
    and the formation of a bubble (intraepidermal level, inside the light
    plates of the basement membrane or under a dense plate). AT
    the determination of the missing protein and the level
    formation of a gallstone formation. To conduct NRIF, receive
    skin biopsy with bladder formed within 24 hours or less.
    The skin area is taken on the border of a healthy place and fresh blister
    education.
  • Electron microscopy is used to determine the subtype.
    diseases. ATыявляются ультраструктурные изменения в биоптате кожи
    and assesses the state of cell and extracellular formations.

Also for the diagnosis of epidermolysis bullosa involved
related specialists (therapist, gastroenterologist, hematologist,
cardiologist, surgeon, dentist, oculist, ENT specialist, oncologist).

Differential diagnostics

Bullosing epidermolysis in newborns differentiate with such
diseases like:

  • pemphigus neonates;
  • exfoliative dermatitis;
  • herpes newborns;
  • bullous congenital erythroderma.

AT более старшем возрасте заболевание дифференцируют со
following pathologies:

  • dermatitis herpetiformis;
  • bullous pemphigoid;
  • exudative erythema;
  • epidermal necrolysis.

Treatment

Treatment буллезного эпидермолиза задача непростая и преследует
following goals:

  • blistering and ulceration;
  • warning of new rashes;
  • eliminating or reducing the intensity of non-skin
    symptoms;
  • improving the quality of life of the patient.

Specific therapy for this disease is not developed.
Symptomatic treatment methods are used. The patient follows
осматривать дважды в день на  предмет новых высыпаний.
Bubble formations are first treated with an antiseptic, then
open using sterile scissors, scalpel or needle. Bubble
pierced in two places parallel to the skin. Bubble cap
do not remove, you just need to release its contents and impose
aseptic dressing with antiseptic (nitrofural, methylthionium chloride
and others). For ligation of the lesion using primary
collagen porous bandages and secondary
fixing. Remove the dressings by treating them with a skin cleaner.
(spray).

If the patient is worried about itching, prescribe antihistamines and
glucocorticoids. With significant pain – non-narcotic
analgesics (ibuprofen, ketorol). If a child swallows hard,
drugs are orally prescribed in liquid form (suspension) or
are administered parenterally. AT случае присоединения вторичной инфекции
antibiotics are prescribed. Also shown is processing intact.
skin ointments with vitamin a and cosmetic moisturizers
twice a day. Это повышает защитные свойства skin. With the development
Complicated specialists are involved in treatment.

Patient care

Regime for a sick child should be protective. I.e
prohibits any exercise that increases
sweating, sudden movements and traumatic situations.

Patients need a special diet. Food should be cleaned, not
cold and not hot, semi-liquid and without seasonings and spices. Diet
must be rich in proteins, carbohydrates and fats, as well as vitamins
and minerals – the body needs building substances for
healing erosions. Also, the patient must consume a lot of fluid.
(wound areas of the skin lose tissue moisture).

Special requirements for clothing and footwear. clothing
the sick child should be free, not rub and not to squeeze
skin Preference should be given to clothing made from natural
materials. At home, it is advisable to dress the child in soft (from the bike,
flannels) pajamas, and socks on their feet (sneakers are not desirable). clothing
must be multi-layered so it retains heat and does not
allows for accumulations of sweat. Underwear and the first layer of clothing
put stitches out. Thongs and belts, tight
gum on swimming trunks and pajamas.

Shoes should be made of genuine, but soft leather, with
minimum seams and lack of decorative details. Desirable
acquire velcro shoes, avoiding shoes with zippers. Shoes for
the child should be free and easy to put on, even with bandages
on foot.

ATопрос – ответ

ATопрос: Есть ли противопоказания для иммунизации
child with epidermolysis bullosa?

No, there are no specific contraindications. Do not vaccinate
only when the patient is not feeling well (a complication of skin
rash). Also Mantoux tests are not performed.

ATопрос: Можно ли вылечиться полностью от
bullosa epidermolysis?

Unfortunately, the disease is incurable, as laid on the gene
level But in medicine, the rarest cases of reverse mosaicism are described.
– recovery of the body, in particular, skin proteins and
the emergence of new changes in the structure of genes. But comfort
parents of a sick child can that the older becomes
the patient, the easier the disease proceeds.

ATопрос: Можно ли как-то предотвратить болезнь?

Yes, in Russia there is still actively prenatal
diagnosis of genetic diseases, including bullous
epidermolysis. To this end, the deadline is 10 – 14 weeks.
choriontsentez and determined the presence of a genetic defect in the fetus.
If it is, pregnancy is recommended to interrupt. Prenatal
diagnosis is shown for couples who already have a patient
baby or with confirmed disease of a parent.

ATопрос: Показана ли больным буллезным
epidermolysis disability?

Yes, disability is determined by any form of illness and
pension is granted.

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