Rehabilitación protésica implanto-soportada en un paciente con epidermolisis ampollar distrófica recesiva. 4 años de seguimiento clínico / Implant-supported dental prostheses in a patient with recessive dystrophic epidermolisis bullosa. Four-year followup

Se describe la evolución de una paciente con diagnóstico molecular de Epidermolisis Ampollar Distrófica Recesiva, quien a los 35 años de edad inicia una rehabilitación bucal mediante prótesis fija implanto-soportada, luego de haber realizado las exodoncias de las piezas remanentes en boca. Todos los implantes se mantuvieron oseointegrados a lo largo de cuatro años de seguimiento clínico y no se encontró flora periodontopática peri-implantar en los controles microbiológicos realizados. Este tipo de rehabilitación es un caso paradigmático para personas con este tipo de genodermatosis, constituyéndose en una posibilidad válida para una mejor calidad de vida frente a las circunstancias adversas que plantea la enfermedad. (AU)

Oral rehabilitation of a 35-years old female patient with Recessive Dystrophic Epidermolisis Bullosa is described. After removal of all remaining teeth, cemented implantasisted prosthesis with shortened arches were installed over three implants in the mandible and four implants in the upper jaw. At the four- year follow up, all the implants conserved osseointegration as well as absence of peri-implantar periodontopatic biofilm was observed. The success achieved in this case becomes a paradigmatic landmark for the oral rehabilitation of patients with such genodermatoses, providing a new resource to improve their quality of life. (AU)

Epidermólisis bullosa: piel de mariposa. A propósito de un caso / Epidermolysis bullosa: butterfly skin. Apropos of a case

La epidermólisis bullosa comprende un grupo heterogéneo de enfermedades ampollosas de la piel y las mucosas, son de origen congénito y hereditario. Hacer el diagnóstico no es difícil si se tiene experiencia dermatológica, pero su clasificación es compleja y para ello se necesita considerar la clínica, la genética, la microscopia y la evaluación de laboratorio. El tratamiento de esta enfermedad es también dificultoso y son necesarias ciertas medidas, para proteger al paciente, evitar la aparición de lesiones y las complicaciones derivadas de ellas. Se describe el tratamiento de estas lesiones en un recién nacido, al que se administraron antibióticos profilácticos y se colocaron vendajes en las lesiones. Se describieron todos los cuidados y recomendaciones para evitar, especialmente los roces y las presiones en estas lesiones, así como las temperaturas altas. Para la confección del presente trabajo se consultaron 18 materiales entre revistas y libros de Pediatría. El caso reportado fue un recién nacido con epidermólisis bullosa atendido en el Hospital Universitario "Dr. Mario Muñoz Monroy" de Colón, Matanzas. Se demostró lo poco frecuente y raro de esta patología para los especialistas del tema (AU).

The epidermolysis bullosa includes a heterogeneous group of bullous skin and mucous diseases of congenital and hereditary origin. Diagnosing them is not difficult if the specialist has dermatologic experience, but their classification is complex and it is necessary to take into account the clinical, genetic and microscopic factors, and the laboratory assessment. The treatment of this disease is also difficult and it is necessary to take certain measures to protect the patient, avoid the onset of lesions and the complications derived from them. The treatment of these lesions in a newborn is described. Prophylactic antibiotics were administered and bandages were put on the lesions. All the cares and recommendations to avoid rubbings and pressures on these lesions, and also the high temperatures, are described. To develop the current term, 18 materials (journals and pediatric books) were consulted. The reported case was the case of a newborn with epidermolysis bullosa attended in the University Hospital "Dr. Mario Muñoz Monroy" of Colon, Matanzas. It was demonstrated the low frequency and rarity of this pathology for the specialists of the theme (AU).

Epidermólisis bullosa: piel de mariposa. A propósito de un caso / Epidermolysis bullosa: butterfly skin. Apropos of a case

La epidermólisis bullosa comprende un grupo heterogéneo de enfermedades ampollosas de la piel y las mucosas, son de origen congénito y hereditario. Hacer el diagnóstico no es difícil si se tiene experiencia dermatológica, pero su clasificación es compleja y para ello se necesita considerar la clínica, la genética, la microscopia y la evaluación de laboratorio. El tratamiento de esta enfermedad es también dificultoso y son necesarias ciertas medidas, para proteger al paciente, evitar la aparición de lesiones y las complicaciones derivadas de ellas. Se describe el tratamiento de estas lesiones en un recién nacido, al que se administraron antibióticos profilácticos y se colocaron vendajes en las lesiones. Se describieron todos los cuidados y recomendaciones para evitar, especialmente los roces y las presiones en estas lesiones, así como las temperaturas altas. Para la confección del presente trabajo se consultaron 18 materiales entre revistas y libros de Pediatría. El caso reportado fue un recién nacido con epidermólisis bullosa atendido en el Hospital Universitario "Dr. Mario Muñoz Monroy" de Colón, Matanzas. Se demostró lo poco frecuente y raro de esta patología para los especialistas del tema (AU).

The epidermolysis bullosa includes a heterogeneous group of bullous skin and mucous diseases of congenital and hereditary origin. Diagnosing them is not difficult if the specialist has dermatologic experience, but their classification is complex and it is necessary to take into account the clinical, genetic and microscopic factors, and the laboratory assessment. The treatment of this disease is also difficult and it is necessary to take certain measures to protect the patient, avoid the onset of lesions and the complications derived from them. The treatment of these lesions in a newborn is described. Prophylactic antibiotics were administered and bandages were put on the lesions. All the cares and recommendations to avoid rubbings and pressures on these lesions, and also the high temperatures, are described. To develop the current term, 18 materials (journals and pediatric books) were consulted. The reported case was the case of a newborn with epidermolysis bullosa attended in the University Hospital "Dr. Mario Muñoz Monroy" of Colon, Matanzas. It was demonstrated the low frequency and rarity of this pathology for the specialists of the theme (AU).

General treatment and wound management in hereditary epidermolysis bullosa: indication and experience using silver hydrofiber dressing / Tratamento geral e das feridas na epidermólise bolhosa hereditária: indicação e experiência usando curativo de hidrofibra com prata

Introduction: Hereditary epidermolysis bullosa (EB) is a rare disorder characterized by cutaneomucous fragility, with formation of blisters during minimal trauma. Treatment consists of clinical and nutritional support and management of pain and skin lesions. Silver hydrofiber (Aquacel Ag®) is a type of carboxymethylcellulose fiber dressing with silver that can be used in selected cases of EB. Objective: To review the literature on the general treatment and management of cutaneous lesions in congenital EB and evaluate the indication and experience of using silver hydrofiber dressing. Methods: The review included original articles and systematic reviews published between 2009 and 2014. We also selected two patients with congenital EB treated at the Plastic Surgery Division of Hospital das Clínicas of the Faculty of Medicine of Ribeirão Preto at the University of São Paulo. Results: There is a shortage of scientific evidence related to the treatment of skin lesions in congenital EB, with most recommendations being based on expert opinions. Hydrofiber is indicated in most consensuses for wounds with some exudation and has been shown to be more absorbent than alginate. In our experience, there was apparent improved control of pain, bleeding, and hypothermia with the use of hydrofiber, which has the advantage of not requiring daily changes and can remain on the wound for up to two weeks. Conclusions: The general and lesion treatments in EB are challenging. Hydrofiber with silver is a treatment option for wounds in hereditary EB, without the need for daily dressing changes.

Introdução: Epidermólise bolhosa (EB) hereditária é uma desordem rara caracterizada pela fragilidade cutaneomucosa, com formação de bolhas ao mínimo trauma. O tratamento consiste em suporte clínico, nutricional, manejo da dor e das lesões cutâneas. A hidrofibra com prata (Aquacel Ag®) é um tipo de curativo de fibra de carboximetilcelulose e prata que pode ser utilizada em casos selecionados de EB. Objetivo: Revisão da literatura sobre o tratamento geral e o manejo das lesões cutâneas na EB congênita, além de avaliar a indicação e experiência usando curativo de hidrofibra com prata. Métodos: A revisão incluiu artigos originais e revisões sistemáticas, publicados entre 2009 e 2014. Selecionamos ainda dois pacientes com EB congênita tratados na Divisão de Cirurgia Plástica do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo. Resultados: Há escassez de evidências científicas relacionadas ao tratamento das lesões cutâneas na EB congênita, sendo a maioria das recomendações baseadas em opiniões de especialistas. A hidrofibra está indicada na maioria dos consensos para feridas com alguma exsudação e mostrou-se mais absorvente que o alginato. Em nossa experiência, houve aparente melhor controle da dor, do sangramento e da hipotermia com o uso da hidrofibra, que apresenta a vantagem de não necessitar de trocas diárias, podendo permanecer na ferida por até duas semanas. Conclusões: O tratamento geral e das lesões na EB é um desafio. A hidrofibra com prata é uma opção de tratamento para as feridas na EB hereditária, sem necessidade de trocas diárias de curativo.

Explorando la participación ocupacional en niños con epidermólisis bullosa integrados al sistema educacional chileno / Exploring to occupational participation in children with epidermolisys bullosa integrated into the chilean educational system

El presente estudio explora la participación ocupacional en el área de educación de niños con epidermólisis bullosa (E.B.) en sus tipos distrófica y de la unión, los cuales, dada su condición de salud general son considerados como estudiantes con necesidades educativas especiales (NEE). Con el objetivo de conocer si la integración es satisfactoria y cuenta con los apoyos necesarios, se realiza mediante un estudio de tipo exploratorio cualitativo, un análisis de tres casos según criterios de inclusión establecidos. A través de un análisis pragmático de los datos obtenidos durante el trabajo de campo se realiza el perfil ocupacional inicial del niño (S.C.O.P.E.), instrumento propio del modelo de ocupación humana, desprendiéndose de éste conclusiones, que se estructuran en base al mismo modelo. La importancia y relevancia de estudiar esta temática está dada por la pertinencia de la intervención y el aporte que la terapia ocupacional puede brindar a las personas con E.B., que si bien desde el punto de vista epidemiológico tiene una baja incidencia en la población general, quienes la padecen requieren de un abordaje multidisciplinar e integral, dado por la complejidad de la condición de salud y el impacto que esta provoca en todas las áreas de la ocupación.

This study explores the occupational participation of children with epydermolisys bullosa (E.B.) dystrophic and junctional in the educational area, which because of their health condition, are considered as student with special educational needs (SEN). With the aim to know how satisfactory is the integration and whether it has the necessary support, the study carried out, through a qualitative and exploratory focus, on three selected cases with the established selection criteria. Through a pragmatic analysis of data obtained during the field work, the short child occupational self assessment (S.C.O.P.E.) is used, from the Model of human occupation (M.O.H.O.), some conclusions emerge, which are structured and based on the model announced. The importance and relevance of studying this subject from occupational therapy is given by the pertinence of the intervention and contribution to E.B. in people who live this condition, even though it as a low incidence in general population from an epidemiological perspective, because they need a multidisciplinary and integral intervention to mitigate the impact caused by the disease in all occupational areas.

Cognitive function in patients with epidermolysis bullosa: social adjustment and emotional problems.

BACKGROUND: Children with Epidermolysis bullosa (EB) suffer from an intractable, burdensome skin disease that may result in cognitive as well as social and emotional problems. PATIENTS: To assess cognitive problems in patients with EB, we investigated 20 affected children and adolescents, 6-17 years of age (mean: 10.8 years; SD: 3.4 years), and 24 healthy controls (6-15 years, mean: 10.9 years; SD: 3.0 years) for cognitive abilities. Additionally, parents were asked to assess social and emotional problems of their children. METHODS: Patients and controls were assessed using the Wechsler Intelligence Scales. Parents completed Achenbach's Child Behaviour Checklist (CBCL), a parent-report measure on emotional and behavioural symptoms in children. RESULTS: The mean scores of the young patients tested with WISC-R and WAIS-R showed no significant left shift if compared to healthy controls. Analyzing the subtypes of EB, however, considerable cognitive deficits were associated with recessive dystrophic EB (RDEB), severe generalized. Less social competence and more social and emotional problems were reported for the entire patient group. CONCLUSIONS: Functional rehabilitation is required to increase not only the physical but the cognitive development of the severely affected children with RDEB. Children and adolescents with all subtypes of EB require therapeutic support regarding their social and emotional life.

A ski and adventure camp for young patients with severe forms of epidermolysis bullosa.

BACKGROUND: The Dystrophic Epidermolysis Bullosa (EB) Research Association (DebRA) of New Zealand has run 3 adventure camps specifically geared to the unique and specific needs of teenagers and young adults with EB. OBJECTIVES: We sought to describe how the 2007 winter camp was organized, funded, and run for teenagers and young adults with a range of EB severities. METHODS: Planning and fundraising by DebRA of New Zealand began 1 year before the camp. Nurses and international medical personnel volunteered as camp staff. Instructors qualified to assist persons with disabilities were hired to provide camp activities. The 5-day adventure camp was held at a national park on the North Island of New Zealand. RESULTS: The 2007 camp included 5 campers (aged 21-35 years) with recessive dystrophic EB, 3 of whom used wheelchairs, and two teenagers with EB simplex. All campers were male. Twelve international volunteers assisted with daily dressing changes and camp activities, which included skiing, whitewater rafting, and fly-fishing. LIMITATIONS: Challenges included difficulty in recruiting new campers each year, particularly female campers. CONCLUSION: The camp allowed campers to challenge themselves both physically and mentally, while developing lifelong friendships. It was immensely rewarding for all the volunteers. This camp demonstrated that it is possible to provide such activities safely to severely affected patients.

Successful prosthetic fitting of a patient with epidermolysis bullosa dystrophica. Case report.

A patient with recessive dystrophic epidermolysis bullosa developed a squamous cell carcinoma of the right foot resulting in a below the knee amputation. Despite the multiple real and potential skin problems of the stump, she was successfully fitted with a simply designed prosthesis and rehabilitated.