ABSTRACT
Resumo Objetivo Analisar a produção científica referente às ações/Intervenções de Enfermagem no ambiente hospitalar relacionadas ao cuidado com crianças e adolescentes com epidermólise bolhosa. Métodos Revisão sistemática, cuja busca se deu nas bases Cinahl, MEDLINE®/PubMed®, SCOPUS, LILACS e SciELO, realizada no período de setembro de 2020 a janeiro de 2021. Para a busca, foram utilizados os descritores "epidermólise bolhosa" AND "criança" AND "adolescente" AND "enfermagem", nas bases Lilacs e SciELO, e "epidermolysis bullosa" AND "children" AND "adolescent" AND, "nursing" nas demais bases em inglês. Resultados Houve maior registro de artigos publicados com base na pergunta norteadora tendo como país de origem os Estados Unidos (22%). A maioria da classificação era no nível VI (44%) da evidência científica. Ainda, 86% dos estudos envolveram pesquisas para o plano de cuidados. As evidências encontradas decorreram de opiniões de especialistas, estudos de casos e consenso. Os fatores de cuidados mais citados foram planos de cuidados voltados à pele; troca de fraldas; cuidados com as roupas e uso de coberturas antiaderentes. Conclusão As pesquisas reportaram dificuldades quanto à disponibilidade de materiais, tratamento e profissionais especializados, além das limitações dos conhecimentos na prática clínica voltada às características da epidermólise bolhosa. Dentre os cuidados, houve destaque para informação sobre a complexidade e as características da ferida como forma de antecipar as estratégias de cuidado.
Resumen Objetivo Analizar la producción científica referente a las acciones/intervenciones de enfermería en el ambiente hospitalario relacionadas con el cuidado a niños y adolescentes con epidermólisis ampollosa. Métodos Revisión sistemática, cuya búsqueda se realizó en las bases Cinahl, MEDLINE®/PubMed®, SCOPUS, LILACS y SciELO, realizada en el período de septiembre de 2020 a enero de 2021. Para la búsqueda se utilizaron los descriptores "epidermólisis ampollosa" AND "niño" AND "adolescente" AND "enfermería", en las bases Lilacs y SciELO, y "epidermolysis bullosa" AND "children" AND "adolescent" AND, "nursing" en las demás bases en inglés. Resultados Con base en la pregunta orientadora, hubo un mayor registro de artículos publicados que tenían como país de origen Estados Unidos (22 %). La mayoría de la clasificación era de nivel VI (44 %) de la evidencia científica. Además, el 86 % de los estudios incluyeron investigaciones en el plano de los cuidados. Las evidencias encontradas derivaban de opiniones de especialistas, estudios de casos y consenso. Los factores de cuidados más citados fueron planos de cuidados orientados a la piel, cambio de pañales, cuidados con la ropa y uso de coberturas antiadherentes. Conclusión Las investigaciones indicaron dificultades en cuanto a la disponibilidad de material, tratamiento y profesionales especializados, además de las limitaciones de conocimientos en la práctica clínica orientada hacia las características de la epidermólisis ampollosa. Entre los cuidados, se destacó la información sobre la complejidad y las características de la herida como forma de anticipar las estrategias de cuidado.
Abstract Objective To analyze the scientific production regarding actions/Nursing Interventions in hospital environments related to the care of children and adolescents with epidermolysis bullosa. Methods This is a systematic review, which was searched in the CINAHL, MEDLINE®/PubMed®, Scopus, LILACS and SciELO databases, carried out from September 2020 to January 2021. For the search, the descriptors "epidermólise bolhosa" AND "criança" AND "adolescente" AND "enfermagem" were used, in Portuguese, in the LILACS and SciELO databases, and "epidermolysis bullosa" AND "children" AND "adolescent" AND "nursing" in the other databases. Results There was a greater number of articles published based on the guiding question having the United States as the country of origin (22%). Most of the classification was at level VI (44%) of scientific evidence. Still, 86% of studies involved research for the care plan. The evidence found resulted from expert opinions, case studies and consensus. The most cited care factors were skin care plans, diaper changing, clothing care and non-stick coating use. Conclusion The surveys reported difficulties regarding the availability of materials, treatment and specialized professionals, in addition to limitations of knowledge in clinical practice focused on the characteristics of epidermolysis bullosa. Among the care, there was emphasis on information about the wound complexity and characteristics as a way of anticipating care strategies.
Subject(s)
Humans , Child , Adolescent , Epidermolysis Bullosa/nursing , Epidermolysis Bullosa/pathology , Skin Care/nursing , Skin Care/methods , Nursing Care , Quality of LifeABSTRACT
ABSTRACT Epidermolysis bullosa is a rare inherited muco-cutaneous disorder that sometimes presents with genitourinary involvement. Herein we report the case of an 11-year-old girl with a history of junctional epidermolysis bullosa who was admitted with urological symptoms. On cystoscopy, suspected bullous bladder lesions were observed. Mesonephroid, intestinal and squamous metaplasia is reported here for the first time.
Subject(s)
Humans , Female , Child , Urinary Bladder/pathology , Epidermolysis Bullosa/pathology , Biopsy , MetaplasiaABSTRACT
Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to antecedents of surgical correction of ankyloblepharon. The importance of the correct diagnosis is emphasized, besides the investigation of the associated diseases, treatment of complications and genetic counseling of the parents.
Subject(s)
Humans , Male , Infant , Ectodermal Dysplasia/pathology , Eye Abnormalities/pathology , Cleft Lip/pathology , Cleft Palate/pathology , Epidermolysis Bullosa/pathology , Eyelids/abnormalities , Scalp/pathology , Skin/pathology , Abnormalities, Multiple , Biopsy , Eyelids/pathologyABSTRACT
We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.
Nós relatamos uma paciente feminina de 28 anos com Síndrome de Kindler, uma forma rara de Epidermólise Bolhosa. Clinicamente, ela apresentava alterações cutâneas pigmentares disseminadas, fotossensibilidade e fragilidade da pele e das mucosas desde a infância. O envolvimento mucoso levou à estomatite erosiva e a estenoses esofágica, anal e vaginal, as quais necessitaram de intervenções cirúrgicas. O diagnóstico de Síndrome de Kindler foi confirmado por sequenciamento de DNA, que demonstrou heterozigose composta uma combinação de mutações uma nonsense e outra frameshift (p.Arg110X; p.Ala289GlyfsX7) no gene FERMT1.
Subject(s)
Adult , Female , Humans , Blister/genetics , Codon, Nonsense , Epidermolysis Bullosa/genetics , Frameshift Mutation , Periodontal Diseases/genetics , Photosensitivity Disorders/genetics , Blister/pathology , DNA Mutational Analysis , Epidermolysis Bullosa/pathology , Membrane Proteins/genetics , Neoplasm Proteins/genetics , Periodontal Diseases/pathology , Photosensitivity Disorders/pathology , Skin/pathologyABSTRACT
Inherited epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders that present with skin and, in some cases, mucosal fragility, predisposing patients to the development of blisters and/or erosions after minimal trauma or friction. Children with a recurrent history of these kinds of lesions or neonates that present them in the absence of another reasonable explanation should be investigated. Diagnosis must be based on clinical and histopathological findings. To date, management of inherited EB basically consists in avoiding traumas that trigger lesions, as well as preventing infection and facilitating healing of the wounds with the systematic use of bandages.
A epidermólise bolhosa hereditária (EBH) compreende um grupo heterogêneo de desordens genéticas que têm em comum a fragilidade cutânea e, em alguns casos mucosa, predispondo ao desenvolvimento de bolhas e/ou erosões após fricção ou trauma mínimo. Crianças com história recorrente deste tipo de lesão ou neonatos que as apresentem na ausência de outra explicação plausível devem ser investigados. O diagnóstico deve se basear em achados clínicos e histopatológicos. Até o presente momento, o manejo da EBH consiste basicamente em evitar os traumas desencadeadores das lesões, bem como evitar a infecção e facilitar a cicatrização das feridas com o uso sistemático de curativos.
Subject(s)
Humans , Epidermolysis Bullosa , Bandages , Epidermolysis Bullosa/classification , Epidermolysis Bullosa/genetics , Epidermolysis Bullosa/pathology , Epidermolysis Bullosa/therapy , Skin/pathology , Wound HealingABSTRACT
Kindler syndrome is a rare autosomal recessive genodermatosis characterized by trauma-induced blisters, progressive poikiloderma and varying degrees of photosensitivity. In 2003, loss-of-function mutations were identified in the gene KIND1 mapped to chromosome 20p12.3. In this paper, we report Kindler syndrome in two children born to consanguineous parents presenting acral blistering, photosensitivity, poikiloderma, cutaneous atrophy and periodontitis.
A síndrome de Kindler é uma genodermatose rara, autossômica recessiva, caracterizada pela presença de bolhas induzidas por traumas, fotossensibilidade, atrofia cutânea e poiquilodermia progressiva. A alteração genética da síndrome foi descrita em 2003, com a identificação de mutação no gene KINDIN1, localizado no cromossomo 20p12.3. Nesse trabalho relata-se a presença da síndrome de Kindler em irmãos, filhos de pais consangüíneos, que apresentavam, desde a infância, fotossensibilidade, bolhas após pequenos traumas, poiquilodermia, atrofia cutânea e periodontite.
Subject(s)
Child, Preschool , Female , Humans , Blister/pathology , Epidermolysis Bullosa/pathology , Periodontal Diseases/pathology , Photosensitivity Disorders/pathology , PhenotypeABSTRACT
A síndrome de Bart é caracterizada pela tríade de manifestações clínicas: epidermólise bolhosa, aplasia de cútis e anormalidades ungueais. Presume-se que a ausência congênita de pele segue as linhas de Blaschko. O tratamento visa a evitar infecções secundárias. O prognóstico é bom e depende da cicatrização das bolhas.
Bart's syndrome is characterized by three clinical manifestations: epidermolysis bullosa, congenital absence of skin, and nail abnormalities. It is believed that congenital skin absence follows the patterns of Blaschko's lines. Treatment seeks to prevent secondary infection. Prognosis is favorable and depends upon the healing of lesions.
Subject(s)
Female , Humans , Infant, Newborn , Epidermolysis Bullosa , Nails, Malformed , Skin Abnormalities , Epidermolysis Bullosa/pathology , Nails, Malformed/pathology , Syndrome , Skin Abnormalities/pathologyABSTRACT
Epidermolysis bullosa is an uncommon disease with a wide spectrum of severity. Here we report a patient presenting with unusual symptoms. The patient is a 22 years old female with progressive dysphasia and odynophagia to solids and liquids and a history of spontaneously remitting blisters caused after mild trauma from her childhood till she was 13 years old. Subepidermal blisters were diagnosed as junctional type of epidermolysis bullosa by histopathology. Physicians should have a high index of suspicion regarding epidermolysis bullosa in patients presenting with dysphagia and cutaneous blisters
Subject(s)
Humans , Female , Adult , Signs and Symptoms, Digestive , Deglutition Disorders/etiology , Epidermolysis Bullosa/pathologySubject(s)
Aged, 80 and over , Carcinoma, Squamous Cell/complications , Carcinoma, Squamous Cell/drug therapy , Carcinoma, Squamous Cell/pathology , Diagnosis, Differential , Epidermolysis Bullosa/complications , Epidermolysis Bullosa/drug therapy , Epidermolysis Bullosa/pathology , Esophageal Neoplasms/complications , Esophageal Neoplasms/drug therapy , Esophageal Neoplasms/pathology , Humans , MaleABSTRACT
To report the ocular findings in a proven case of Junctional epidermolysis bullosa. A 4-year-old boy known to have epidermolysis bullosa presented with left corneal epithelial defect. After treatment with fusidic acid suspension, lubricants and cycloplegia, he was observed for 3 months. Skin biopsy was submitted for both light and electron microscopy to confirm the diagnosis. Epithelial defect healed after 5 days leaving faint subepithelial opacity at the level of Bowman's layer. Three months later, both palpebral conjunctiva showed marked scarring in addition to the subepithelial haze in the left cornea. Light and electron microscopy of a skin biopsy showed subepidermal cleft involving lamina lucida as a diagnostic feature of Junctional epidermolysis bullosa. Junctional epidermolysis bullosa can be associated with various ocular complications such as superficial corneal scarring. Skin biopsy is needed to confirm the diagnosis
Subject(s)
Humans , Male , Epidermolysis Bullosa/pathology , Eye Diseases/etiology , Eye Diseases/pathology , Corneal Diseases/etiology , Corneal Diseases/pathology , Tissue AdhesionsABSTRACT
O presente trabalho foi realizado com o objetivo de relatar as principais características bucais e condutas de tratamento em paciente portador de epidermólise bolhosa distrófica recessiva, enfatizando a importância da educação voltada à saúde bucal e da adoção de medidas preventivas
Subject(s)
Humans , Female , Child , Mouth Diseases/therapy , Epidermolysis Bullosa/pathology , Epidermolysis Bullosa DystrophicaABSTRACT
Os autores fazem uma revisäo da literatura sobre essa entidade e relatam 3 casos ocorridos no HU-UFJF no período de 1992 e 1998 colocando em evidência as principais características clínicas encontradas.
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Epidermolysis Bullosa/pathology , Brazil , Dermatitis Herpetiformis/pathology , Epidermolysis Bullosa Acquisita/pathology , Pemphigoid, Bullous/pathology , Pemphigus/pathology , Porphyria Cutanea Tarda/pathology , Retrospective StudiesABSTRACT
Se presenta el caso de una niña de un año y medio con diagnóstico clínico, inmunopatológico y técnica de salt-split de epidermólisis ampollar adquirida. Se efectuó una revisión del tema de los casos pediátricos presentados hasta la fecha; nueve en total
Subject(s)
Humans , Female , Child, Preschool , Epidermolysis Bullosa/diagnosis , Dapsone/therapeutic use , Epidermolysis Bullosa/pathology , Epidermolysis Bullosa/drug therapy , Prednisone/therapeutic useABSTRACT
Electron microscopy is now widely used in the evaluation of disease tissue. Indeed, these relatively new diagnostic methods have become essential to the fields of dermatology. Their value in the pathology of skin is no less great: Definitive diagnosis of most connective tissue disorders (amyloidosis, hyalinosis, etc.) is not possible without ultrastructural and histochemical analysis. Cellular inclusions are helpful in the diagnosis of a number of skin disorders: filamentous and granular inclusions in recurrent digital fibroma of childhood and tubuloreticular inclusions in collagen vascular diseases. Hair abnormalities are best analyzed by scanning electron microscopy.
Subject(s)
Amyloidosis/pathology , Diagnosis, Differential , Epidermolysis Bullosa/pathology , Histiocytosis, Langerhans-Cell/pathology , Humans , Lymphoma, T-Cell, Cutaneous/pathology , Microscopy, Electron , Miliaria/pathology , Skin/pathology , Skin Diseases/pathology , Skin Neoplasms/pathologyABSTRACT
E estudado um caso de epidermolise bolhosa adquirida (Penfigoide bolhoso) em um homem adulto com insucesso terapeutico. E feita uma revisao da entidade e estudadas as relacoes com o penfigoide bolhoso o e penfigoide cicatricial. Discute-se a autonomia da entidade e destaca-se, sobretudo, como de valor diagnostico o nivel da clivagem-sublamina densa
Subject(s)
Epidermolysis Bullosa/pathology , Diagnosis, Differential , Epidermolysis Bullosa/diagnosis , Epidermolysis Bullosa/immunology , Pemphigoid, Benign Mucous Membrane/diagnosis , Pemphigoid, Benign Mucous Membrane/immunology , Pemphigoid, Bullous/diagnosis , Pemphigoid, Bullous/immunology , Prednisone/therapeutic useABSTRACT
Los estudios serologicos para inmunofluorescencia indirecta (IFD) como las bipsias de la piel para inmunofluorescencia directa (IFD) en las enfermedades vesicampollosas nos pueden dar una informacion diagnostica. Se describen las principales enfermedades ampollosas, como dermatitis herperiforme, penfigos, penfigoide, herpes gestationis, dermatits ampollosa de IgA lineal, etc., haciendo enfasis en la clase, caracteristicas y localizacion de los diferentes anticuerpos a nivel de la piel de estas entidades, como tambien la presencia de antigenos de histocompatibilidad. Se menciona como la toma de la biopsia de piel y mucosas difere para cada entidad para lograr una mayor positividad
Subject(s)
Humans , Male , Female , Skin Diseases, Vesiculobullous , Fluorescent Antibody Technique/instrumentation , Dermatitis Herpetiformis/immunology , Epidermolysis Bullosa/diagnosis , Epidermolysis Bullosa/pathology , Erythema/immunology , Erythema/physiopathology , Gingivitis/immunology , Gingivitis/physiopathology , Pemphigoid Gestationis/diagnosis , Pemphigoid Gestationis/pathology , Pemphigoid, Bullous , Porphyrias/physiopathology , Skin Diseases, Vesiculobullous/classification , Skin Diseases, Vesiculobullous/pathologyABSTRACT
Presentamos el caso clínico de una paciente afectada de epidermolisis ampollar distrófica dominante - variante albopapuloide -. Medicada con 300 mg/día de hidantoinatos y controlada durante 30 meses. Se observó respuesta terapéutica favorable concomitantemente con niveles sanguíneos de hidantoínas superiores a 4 ug./ml. La mejoría se evidenció, fundamentalmente, por disminución en la frecuencia de aparición de ampollas y desaparición de lesiones inflamatorias asociadas a los quistes de milium. En la bibliografía consultada la medicación utilizada está indicada en las formas distróficas recesivas, sin embargo los resultados obtenidos nos inducen a sugerir su utilización en esta forma clínica para poder extraer resultados definitivos
Subject(s)
Adult , Humans , Female , Epidermolysis Bullosa/pathologyABSTRACT
Dentre as doenças mecano-bolhosas da pele, encontramos a epidermólise bolhosa letal, que durante muito tempo teve sua classificaçäo discutida, até ser reconhecida como uma entidade clínica e laboratorial distinta das demais. Os autores fizeram uma revisäo bibliográfica sobre essa doença e teceram comentários sobre um caso