We included in the study all patients with EB diagnosed in our reference center from 1990 onwards. Patients undergo at least annual follow-up with a multidisciplinary medical and/or surgical approach, diagnostic investigations and specific treatment.
The patients have been classified in 3 age groups: < 5 years, > 5–12 years and > 12–18 years, due to the wide variability of EB age-related features, encountered problems, difficulties on disease management and daily life, as well as self-perception, and interactions with family members. Dedicated dermatologist and nurse with the support of a psychologist in most cases deliver the therapeutic education. We inform the parents/caregivers to create a relaxing context, to prepare all required materials for dressing, and to administer analgesic drugs to the patient prior to medication.
The dermatologist and the nurse teach the parents how to handle the baby and to breastfeed him/her, how to remove the dressings avoiding trauma, to break the blister roof, and to remove the crusts in order to reduce itching, and to recognize wound characteristics, the respective management and dressing, to dress the fingers in patients with recessive dystrophic EB to delay syndactyly.
An appropriate wound management is mandatory. Specific advanced dressings should be used to i) improve healing, ii) prevent further lesions, iii) treat existing wounds and prevent/treat infection, iv) limit/delay complications such as contractures, squamous cell carcinoma, v) improve adherence to treatment. It is recommended to lance new blisters with a finger prick lancet or a sterile needle and drained to prevent their expansion, leaving the blister roof in place to reduce infection risk and pain. Wound management strategies should consider wound characteristics, patient age, efficacy, cost, and patient preferences. In addition, special clothing in antibacterial and restraining fabric (leggings, tubular, socks, gloves, bodysuit) and without traumatizing seams are recommended.
A psychologist is involved to work alongside the dermatologist and nurse to support families from the earliest days of the newborn's life.
The pediatrician together with the dietician explain the importance of hydration, quality and quantity of nutritional intake, check the blood exams and prescribes support therapies with vitamins and food supplements. The endocrinologist often supports the role of the pediatrician in the management of complications (osteoporosis or vitamin deficiencies).
The physiotherapist teaches the advantages of physiotherapy and suggests the appropriate sport activities to prevent/delay contractures and osteoporosis. The dentist educates the parents to the oral hygiene since the first months of life in order to prevent/delay scarring, caries and parodontopathy. The plastic surgeon is involved in case of pseudosyndactyly or of squamous cell carcinoma. In patients with suspicion of oesophageal stricture/stenosis, the digestive surgeon is involved for specific diagnosis and treatment.
We offer to all families, as well as to the children and adolescents psychological support. Follow up of the patient depends on EB subtype and patient’s age to prevent and early treat complications. Thus, all EB patients and families get a direct contact to the referent nurse or dermatologist, avoiding normal waiting list.
Patients < 5-years-old
In Italy, a newborn affected with EB is immediately transferred to the specific referral center, often in Neonatal Intensive Care Unit, with a consequent dramatic effect on the parents due to the early child separation.
After birth, parents initially receive a diagnosis that is not definitive because EB includes multiple subtypes, among which some are benign, others are chronic and disabling, and others are fatal.
In addition, when parents see their child for the first time, skin lesions have a significant impact, which may cause an attitude of refusal and difficulty in breastfeeding the new-born. Moreover, in presence of blisters on the oral mucosa the new-born may have difficulties in feeding, and the support of specialized nursing staff, in order to support breastfeeding, has a crucial role from the first days of life (https://ern-skin.eu/tutorials/Epidermolysis bullosa and breastfeeding).
Therapeutic education before the child is discharged from the hospital is a key step in empowering both parents to manage their child at home. Starting from the first days, the medical staff helps the family in taking care of the new-born, from the most trivial daily activities, to advanced medications in order to make them autonomous.
It is fundamental to establish a relationship of continuity of care with the structures on the territory (primary care paediatrician). In our center, we carry out "protected discharges" ensuring, at least in severe cases, that through multidisciplinary meetings between the hospital staff and the primary care paediatrician the family is properly followed during the first weeks of life of the child. Indeed, the discharge represents a very difficult and drastic moment for the parents, that changes their perception of parenthood. The family must reconstruct its identity accepting the disease, reorganizing daily life, creating a routine of care in which parents should feel capable and effective, equipped to sustain the care by themselves. The parents of EB patients often face a multitude of emotional hardships while taking charge as caregivers. The feeling of joy of having a newborn turns into fear, guilt, shock, denial and helplessness because of the heavy burden of caring for a seriously ill child. The family undergoes an important change after EB diagnosis, starting with the couple's relationship, which can later progress to other family members such as brothers or sisters. An early therapeutic alliance between the medical professionals and the family facilitates adaptation to the disease, which can stabilize and protect the family unit, the relationship between all members, and the psychophysical development of the child.
Patients > 5–12 years-old
As the child grows, parents must make continuous adjustments between the natural protective tendency (amplified by the disease), and the need to allow the child to explore the environment and to facilitate a progressive autonomy. Gradually the child begins to compare himself with others, and starts to ask questions often triggered by the reaction and curiosity of peers, which leads to a manifestation of a bad self-image.
The child becomes more aware of his or her illness, and experiences medication as a very traumatic moment. In the light of this, during the primary school phase (from 6 to 12 years old) we support the child to understand the disease and the fact that the potential complications could be reduced with good management. The child assumes more responsibility towards the pathology and above all begins to manage the disease, to have a well constructed self-perception, to understand the importance of medication and the application of topical therapy. Furthermore, he/she will be able to recognize and understand that taking care of himself/herself will make him/her feel better.
In this phase, the medical staff and the parents have a psychologically important role, helping the child the awareness of his/her condition, accepting and interpreting behavioural signals such as opposition to daily care, onset of signs of discomfort and answering to his/her direct questions. It is useful to involve the child so that he/she becomes part of the self-care, collaborating with his/her parents and becoming an "expert" in the disease .
Patients > 12–18 years-old
During this phase, the adolescents change their relationship with themselves and they have a full understanding of their condition, the characteristics of the disease, its rarity and chronicity. Bodily development, largely conditioned by the disease, does not correspond to the typical adolescent and does not allow for the investment process typical of this age. The omnipotence and natural expansion of the adolescent clashes with a body that is strongly limited and limiting.
At this stage, the wish for independence is frustrated by the need to remain connected to the family because of the disease and its associated demands.
The relationship with the healthcare staff, who increasingly speak directly to the child, can support him/her in the search for new motivations, reshaping the goals and negotiating with him/her the treatment, as far as possible.
In the adolescent period, it is very difficult to maintain adherence to the treatment, because they manifest a total rejection of their body, they realize that the pathology is chronic and worsening and they tend to be incompliant.
Furthermore, first complications (skin and mucosal cancer) begin to appear at this age, and treatment adherence is the only way to counteract or postpone these complications as much as possible.