Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa.

BACKGROUND: Anemia is a common complication of severe forms of epidermolysis bullosa (EB). To date, there are no guidelines outlining best clinical practices to manage anemia in the EB population. The objective of this manuscript is to present the first consensus guidelines for the diagnosis and management of anemia in EB. RESULTS: Due to the lack of high-quality evidence, a consensus methodology was followed. An initial survey exploring patient preferences, concerns and symptoms related to anemia was sent to EB patients and their family members. A second survey was distributed to EB experts and focused on screening, diagnosis, monitoring and management of anemia in the different types of EB. Information from these surveys was collated and used by the panel to generate 26 consensus statements. Consensus statements were sent to healthcare providers that care for EB patients through EB-Clinet. Statements that received more than 70% approval (completely agree/agree) were adopted. CONCLUSIONS: The end result was a series of 6 recommendations which include 20 statements that will help guide management of anemia in EB patients. In patients with moderate to severe forms of EB, the minimum desirable level of Hb is 100 g/L. Treatment should be individualized. Dietary measures should be offered as part of management of anemia in all EB patients, oral iron supplementation should be used for mild anemia; while iron infusion is reserved for moderate to severe anemia, if Hb levels of > 80-100 g/L (8-10 g/dL) and symptomatic; and transfusion should be administered if Hb is < 80 g/L (8 g/dL) in adults and < 60 g/L (6 g/dL) in children.

Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.

Next-generation sequencing (NGS) is helpful in diagnosing complex genetic disorders and phenotypes, particularly when more than one overlapping condition is present. From a large cohort of 362 families with clinical manifestations of skin and mucosal fragility, referred by several major medical centers, one patient was found by NGS to have two overlapping heritable skin diseases, recessive dystrophic epidermolysis bullosa (RDEB; COL7A1 mutations) and acrodermatitis enteropathica (AE; SLC39A4 mutations). The pathogenicity of the variants was studied at gene expression as well as ultrastructural and tissue levels. Although there is no specific treatment for RDEB except avoiding trauma, supplementation with oral zinc (3 mg·kg-1 ·day-1 ) for the AE resulted in rapid amelioration of the skin findings. This case demonstrates the power of NGS in identifying two genetically unlinked diseases that led to effective treatment with major clinical benefits as an example of genomics-guided treatment.

Benefícios da laserterapia nas lesões bucais da Epidermólise Bolhosa / Benefits of laser therapy in oral lesions of epidermolysis bullosa

A Epidermólise Bolhosa (EB) é um grupo de dermatoses bolhosas hereditárias que acometem a pele e mucosas. No presente trabalho, uma paciente do sexo feminino, seis anos, que foi diagnosticada ao nascimento como sendo portadora da EB distrófica, apresentou, ao exame clínico, ulcerações e bolhas na língua, mucosa jugal, palato, assoalho bucal, vestíbulos e gengivas, microstomia, anquiloglossia, ausência de vestíbulo bucal e lingual e apinhamento dentário. Toda essa condição oral acarretava à paciente dificuldade e sintomatologia dolorosa na alimentação e na higienização, além de dificultar o trabalho do profissional de Odontologia. O tratamento das lesões intraorais com irradiações por laser em baixa intensidade (comprimento de onda = 660 nm) foi proposto visto suas ações biomoduladora, anti-inflamatória, antiálgica, antiedematosa e cicatrizante. Foram realizadas, semanalmente, aplicações pontuais com dose de 90 J/cm² e potência de 40 mW (área de spot de 0,04 cm2). Após laserterapia, observou-se aumento da abertura de boca, melhora da higienização, da alimentação, com introdução de alimentos mais duros, aumento do conforto nestas tarefas, diminuição do número de bolhas intraorais, quando não havia problemas sistêmicos comprometedores, e realização do tratamento odontológico de forma menos traumática e desconfortável para a paciente (AU).

The Epidermolysis Bullosa (EB) is a group of inherited bullous skin diseases that affect the skin and mucous membranes. In the present work, a 6-year-old female patient who was diagnosed at birth as bearer of dystrophic EB, presented, at clinical examination, ulcers and blisters on the tongue, buccal mucosa, palate, mouth floor, vestibule and gums, microstomia, ankyloglossia, absence of buccal and lingual vestibule, and dental crowding. This oral condition brought to the patient pain symptomatology and difficulty to feed and to do oral hygiene, as well as hindered dental professional work. The treatment of intra-oral lesions with laser irradiation at low intensity (wavelength = 660 nm) was proposed due to its biomodulator, antiinflammatory, analgesic, anti-edematous, and healing effects. Punctual weekly applications of 90 J/cm² and power of 40 MW were made. After laser therapy, there was increase of mouth opening, improved oral hygiene, and better feeding, with the introduction of hard food, increased comfort in these tasks, reduction of intra-oral blisters number, when there was no systemic problems compromising, and dental treatment was performed in a less traumatic and uncomfortable way for the patient (AU).

Minimally invasive endoscopic treatment for pediatric combined high grade stenosis as a laryngeal manifestation of epidermolysis bullosa.

Epidermolysis bullosa refers to a clinically and genetically heterogeneous group of inherited mucocutaneous diseases. Laryngotracheal lesions are momentous regarding the risk of sudden airway obstruction. The traditional treatment is tracheostomy. This case report highlights the advantages of minimally invasive interventions. A successful combined endoscopic management of a life-threatening respiratory crisis is presented in a 4-year-old child. Combined commissure stenosis with supraglottic spread was treated by CO2 laser dissection and bilateral endoscopic arytenoid abduction lateropexy, supplemented with mitomycin C application. Due to expectable less scarring, the combination of these modern methods may be an efficient solution in these vulnerable respiratory tracts.

Manifestações clínicas da epidermólise bolhosa: revisão de literatura / Clinical manifestations of epidermolysis bullosa: a literature review

Introdução: A epidermólise bolhosa é uma dermatose hereditária rara, caracterizada pelo desenvolvimento de bolhas na região cutâneo-mucosa de todo o corpo, em resposta ao trauma mínimo, ao calor ou a nenhuma causa aparente, podendo manifestar-se ao nascimento ou durante os primeiros anos de vida. Sua classificação é determinada pela modalidade de herança genética, distribuição anatômica das lesões e morbidez associada à doença, distinguindo-se em três grupos principais: epidermólise bolhosa simples, juncional e distrófica, que englobam mais de 30 entidades distintas. O desenvolvimento de bolhas em pele e mucosas e as deformidades decorrentes de tais lesões interferem sobremaneira na atenção à saúde bucal, assim, é importante que o cirurgião dentista conheça a epidermólise bolhosa e esteja preparado para assistir o paciente portador dela. Objetivo: Foi realizada ampla revisão da literatura acerca da epidermólise bolhosa, enfatizando suas manifestações clínicas e os principais aspectos que interferem com a saúde bucal dos pacientes acometidos por essa condição e com sua assistência odontológica. O objetivo foi subsidiar o profissional de saúde, possibilitando que o mesmo preste a adequada assistência ao paciente, contribuindo para a melhora de sua saúde bucal e consequentemente de sua qualidade de vida. Conclusão: As alterações primárias e secundárias da epidermólise bolhosa tornam um verdadeiro desafio para o cirurgião-dentista à condução do tratamento odontológico para o paciente com esta rara dermatose. Antes de iniciar o tratamento, é fundamental entrar em contato com a equipe de saúde responsável pelo acompanhamento clínico do paciente. Apesar de o tratamento odontológico reabilitador ser possível, sua condução é bastante desgastante, envolvendo riscos para o paciente. Assim, a promoção da saúde e a prevenção das doenças bucais devem ser enfatizadas e iniciadas o mais precocemente possível.

Introduction: Epidermolysis bullosa is a rare inherited skin condition characterized by the development of blisters on mucocutaneous regions of the body in response to minor traumas, heat or no apparent cause. It may manifest at birth or during the first years of life. Its classification is determined by genetics, anatomical distribution of the lesions and associated morbidity. It is divided into three main groups: epidermolysis bullosa simplex, junctional and dystrophic, covering over 30 different entities. The development of blisters in the skin and mucous membranes, and the deformities resulting from such lesions interfere excessively in the oral health, thus it is important for the dentist to know epidermolysis bullosa and to be prepared to assist patients with this condition. Objective: A comprehensive review of the literature on epidermolysis bullosa was conducted, emphasizing its clinical manifestations and the key issues that interfere with the oral health of patients suffering from the condition and with their dental care. The aim was to aid the health professionals, enabling them to provide adequate patient care, contributing to the improvement of their oral health and consequently their quality of life. Conclusion: The primary and secondary damages of epidermolysis bullosa become a real challenge for the dentist to conduct dental treatment for patients with this rare dermatosis. Before starting the treatment, it is essential to contact the health care team responsible for monitoring the patient's condition. A rehabilitating dental treatment is possible, but its conduction is very stressful, involving risks to the patient. Thus, health promotion and prevention of oral diseases should be emphasized and initiated as early as possible.

Epidermolysis bullosa: report of three cases treated with homeopathy.

Epidermolysis bullosa (EB) is a group of rare genetic disorders characterized by recurrent blistering as a result of even minor traction of epithelial lined tissues, most remarkably the skin. Associated morbidity is serious for all patients affected due to the presence of large areas of denudated skin thus susceptible to infection. There is currently no available treatment in conventional medicine. This article reports the case of 3 children successfully treated with individualized homeopathic medicines.

Laserterapia na epidermólise bolhosa: revisão daliteratura e relato de caso / Lasertherapy in epidermolysis bullosa: review of literature and case report

Os autores apresentam um caso clínico de Epidermólise Bolhosa (EB), atendido na clínica da disciplinade Odontologia para Pacientes Especiais do curso de Odontologia da Universidade Cruzeiro do Sul(Unicsul-São Paulo), com lesões na cavidade oral, tratadas com laser de baixa intensidade. Há poucoscasos relatados na literatura de lesões de EB na cavidade oral, e a forma de manejo desses pacientespelo cirurgião-dentista. O artigo discute também aspectos relacionados à sua definição, ao diagnóstico,à etiologia e ao tratamento dessa alteração, indicando a laserterapia como alternativa no tratamentosintomático das EB.

The authors present a case of epidermolysis bullosa (EB), attended the clinic of the discipline ofdentistry for special patients the course of Dentistry, University Cruzeiro do Sul (Unicsul-Sao Paulo),with lesions in the oral cavity treated with low-level laser intensity. There are few cases reported in theliterature of EB lesions in the oral cavity, and how to manage these patients by dentists. The article alsodiscusses issues related to its definition, diagnosis, etiology and treatment of this amendment, indicatingthe laser therapy as an alternative in the symptomatic treatment of EB.

Oral diseases of immunological background

From a clinician's point of view, diseases of the immune system are broadly grouped into the following categories: I. Immunodeficiency disorders II.Autoimmune diseases III. Hypersensitivity reactions (AU)

[Epidermolysis bullosa acquisita: diagnosis by optic immunofluorescent demonstration of junctional antigens and vitamin E treatment]. / Epidermolysis bullosa acquisita: Diagnostik durch immunfluoreszenzoptische Darstellung von junktionalen Antigenen und behandlung mit Vitamin E.

In a patient with epidermolysis bullosa acquisita the characteristic dermolytic cleavage was demonstrated by electron microscopy and by mapping of antigenic determinants (type IV collagen, laminin, bullous pemphigoid antigen) of the dermal-epidermal junction. The latter method represents a rapid and reliable way to determine the cleavage plane in diseases which display subepidermal blister formation at the light-microscopic level. The classification of epidermolysis bullosa acquisita is still under dispute. Due to its highly characteristic clinical, ultrastructural, and immunologic features and pending further experimental data, epidermolysis bullosa acquisita should be regarded as a separate disease entity; its lumping together with cicatricial pemphigoid, as proposed by some authors appears speculative. Therapy of epidermolysis bullosa acquisita is generally regarded as difficult; following a 3-year course of high dose vitamin E therapy our patient underwent complete clearing; the possibility of a spontaneous remission, on the other hand, cannot be unequivocally ruled out.