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Abstract(s)
Introdução: A epidermólise bolhosa (EB) é uma patologia rara, de alta variabilidade
clínica e genética e de alto grau de severidade, que se caracteriza potencialmente pela
formação de bolhas na pele, após traumatismos mínimos (traumas, fricção e altas
temperaturas) ou, por vezes, espontaneamente. Além dessas manifestações, pode
apresentar complicações extracutâneas, como gastrointestinais, músculo-esqueléticas,
oculares e do trato geniturinário. A EB divide-se em quatro principais tipos. O subtipo
epidermólise bolhosa distrófica inclui tanto a forma dominante como a recessiva, ambas
associadas a mutações no gene COL71A, que codifica o colagénio tipo VII.
Objetivo: Este trabalho consiste num estudo de caso, de uma criança de 14 anos,
portador de epidermólise bolhosa distrófica recessiva (EBDr), cujo objetivo é elaborar um
pequeno enquadramento teórico sobre a patologia e uma apresentação detalhada das
manifestações clínicas presentes no doente, dando enfâse às complicações músculoesqueléticas e atuação perante tal condição.
Metodologia: Este estudo de caso foi realizado com base em artigos selecionados nas
bases de dados Pubmed e Science Direct, informações disponibilizadas pela DEBRA
internacional e DEBRA Portugal; informação providenciada de dissertações
anteriormente publicadas e de páginas da web. A descrição do caso foi baseada nas
informações fornecidas pelos pais do doente, relatórios de consultas médicas em Cabo
Verde e em França, onde o paciente é seguido e também na observação realizada pelo
dissertante.
Descrição do caso: Paciente do sexo masculino, 14 anos de idade, raça negra, grupo
sanguíneo O RH+, pais sem história de consanguinidade. À nascença apresentava
ausência da camada epidérmica nas extremidades inferiores, dos joelhos até o dorso do
pé, bilateralmente, com bolhas de 1-2cm de diâmetro nas mãos e cavidade oral. Suspeitouse de EBDr, confirmado, posteriormente, por biópsia cutânea através da
imunofluorescência direta. Atualmente, além das bolhas generalizadas, ulcerações e
prurido, apresenta lesões cicatrizais no palato e nos dois lados internos da bochecha,
língua sem papilas e anquiloglossia relativamente acentuada, microstomia, simbléfaro do
olho direito, retração e pseudosindactilia das mãos e dos pés, onicodistrofia, fimose,
desnutrição agravada, atraso do crescimento, anemia ferropénica e síndrome de inflamação crônica. Em 2013, realizou dilatação esofágica, devido à estenose dos terços
superior e médio do esófago.
Discussão: As complicações músculo-esqueléticas, como todas as outras, comprometem
a capacidade funcional/ motora/ psicológica do paciente e da família, afetando
diretamente a realização de atividades de vida diária e reduzindo a qualidade e a
esperança de vida. Fazem parte deste quadro: pseudosindactilia, osteopenia, dor lombar,
fraturas e outros distúrbios reumatológicos e são os principais responsáveis pela dor
nesses pacientes. Sendo que a EB afeta múltiplos sistemas do organismo, é mandatória a
avaliação e controlo da dor, de forma contínua (atuando sobre os fatores agravantes e
atenuantes), tendo em conta a idade e comparando sempre a dor crónica e a aguda,
associada aos procedimentos.
Conclusão: Actualmente, o tratamento consiste apenas, nos cuidados de suporte
integrado entre uma equipa multidisciplinar e as famílias. Os profissionais de saúde
envolvidos no tratamento da EB e, em particular no controlo das manifestações músculoesqueléticas, devem ser treinados e estar sensibilizados para melhor atuarem, prevenindo
complicações reumatológicas e evitando outros danos com a terapêutica implementada.
Da mesma forma, deve ser promovida discussão aberta entre os profissionais de saúde e
os doentes/cuidadores. É preciso ouvir o doente e/ou cuidador pela sua experiência em
lidar com esta patologia.
Introduction: Epidermolysis bullosa (EB) is a rare pathology of high clinical and genetic variability and of a high degree of severity, which is potentially characterized by the formation of blisters on the skin after minimal trauma (trauma, friction, and high temperatures), or sometimes spontaneously. In addition to these manifestations, it may present extracutaneous complications, such as gastrointestinal, musculoskeletal, ocular, and genitourinary tract complications. EB is divided into four main types. The dystrophic epidermolysis bullosa subtype includes dominant and recessive forms associated with mutations in the COL71A gene, which encodes type VII collagen. Objective: This study consists of a case study of a 14-year-old child with recessive dystrophic epidermolysis bullosa (rEBD), whose aim is to elaborate a small theoretical framework on the pathology and a detailed presentation of the clinical manifestations present in the patient, emphasizing the musculoskeletal complications and our performance in this condition. Methodology: This case study was based on articles selected in the Pubmed and Science Direct databases, the information provided by DEBRA International and DEBRA Portugal, and information was taken from previously published dissertations and web pages. The case description was based on the information provided by the patient’s parents, reports of medical appointments in Cape Verde and France, where the patient is followed, and the observation made by the discourser. Case description: Male patient, 14 years old, black race, blood group O RH+, parents with no history of consanguinity. At birth, the epidermal layer was absent in the lower extremities, from the knees to the dorsum of the foot, bilaterally, with blisters of 1-2cm in diameter on the hands and oral cavity. Recessive dystrophic epidermolysis bullosa (rEBD) was suspected, later confirmed by skin biopsy by direct immunofluorescence. Currently, in addition to generalized blisters, ulcerations, and pruritus, it presents scar lesions on the palate and on the two inner sides of the cheek, tongue without papillae and relatively marked ankyloglossia, microstomy, symblepharon of the right eye, retraction and pseudosyndactyly of the hands and feet, onychodystrophy, phimosis, aggravated malnutrition, growth retardation, iron deficiency anemia, and chronic inflammation syndrome. In 2013, he performed an esophageal dilatation due to stenosis of the upper and middle thirds of the esophagus. Discussion: Musculoskeletal complications, like all others, compromise the functional/motor/psychological capacity of the patient and family, directly affecting the performance of activities of daily living and reducing quality and life expectancy. Pseudosyndactyly, osteopenia, low back pain, fractures and other rheumatologic disorders are part of this picture and are mainly responsible for pain in these patients. Since EB affects multiple body systems, it indicates continuous evaluation and control of pain (acting on aggravating and mitigating factors), considering age and constantly comparing chronic and acute pain associated with procedures. Conclusion: The treatment consists only of integrated supportive care between a multidisciplinary team and the families. Health professionals treating EB and controlling musculoskeletal manifestations should be trained and sensitized to act better, preventing rheumatic complications and avoiding other damages with the implemented therapy. Likewise, promote open discussions between health professionals and patients/caregivers. Listening to the patient and caregiver for their experience in dealing with this pathology is necessary.
Introduction: Epidermolysis bullosa (EB) is a rare pathology of high clinical and genetic variability and of a high degree of severity, which is potentially characterized by the formation of blisters on the skin after minimal trauma (trauma, friction, and high temperatures), or sometimes spontaneously. In addition to these manifestations, it may present extracutaneous complications, such as gastrointestinal, musculoskeletal, ocular, and genitourinary tract complications. EB is divided into four main types. The dystrophic epidermolysis bullosa subtype includes dominant and recessive forms associated with mutations in the COL71A gene, which encodes type VII collagen. Objective: This study consists of a case study of a 14-year-old child with recessive dystrophic epidermolysis bullosa (rEBD), whose aim is to elaborate a small theoretical framework on the pathology and a detailed presentation of the clinical manifestations present in the patient, emphasizing the musculoskeletal complications and our performance in this condition. Methodology: This case study was based on articles selected in the Pubmed and Science Direct databases, the information provided by DEBRA International and DEBRA Portugal, and information was taken from previously published dissertations and web pages. The case description was based on the information provided by the patient’s parents, reports of medical appointments in Cape Verde and France, where the patient is followed, and the observation made by the discourser. Case description: Male patient, 14 years old, black race, blood group O RH+, parents with no history of consanguinity. At birth, the epidermal layer was absent in the lower extremities, from the knees to the dorsum of the foot, bilaterally, with blisters of 1-2cm in diameter on the hands and oral cavity. Recessive dystrophic epidermolysis bullosa (rEBD) was suspected, later confirmed by skin biopsy by direct immunofluorescence. Currently, in addition to generalized blisters, ulcerations, and pruritus, it presents scar lesions on the palate and on the two inner sides of the cheek, tongue without papillae and relatively marked ankyloglossia, microstomy, symblepharon of the right eye, retraction and pseudosyndactyly of the hands and feet, onychodystrophy, phimosis, aggravated malnutrition, growth retardation, iron deficiency anemia, and chronic inflammation syndrome. In 2013, he performed an esophageal dilatation due to stenosis of the upper and middle thirds of the esophagus. Discussion: Musculoskeletal complications, like all others, compromise the functional/motor/psychological capacity of the patient and family, directly affecting the performance of activities of daily living and reducing quality and life expectancy. Pseudosyndactyly, osteopenia, low back pain, fractures and other rheumatologic disorders are part of this picture and are mainly responsible for pain in these patients. Since EB affects multiple body systems, it indicates continuous evaluation and control of pain (acting on aggravating and mitigating factors), considering age and constantly comparing chronic and acute pain associated with procedures. Conclusion: The treatment consists only of integrated supportive care between a multidisciplinary team and the families. Health professionals treating EB and controlling musculoskeletal manifestations should be trained and sensitized to act better, preventing rheumatic complications and avoiding other damages with the implemented therapy. Likewise, promote open discussions between health professionals and patients/caregivers. Listening to the patient and caregiver for their experience in dealing with this pathology is necessary.
Description
Keywords
Complicações Músculo-Esqueléticas Epidermólise Bolhosa Epidermólise Bolhosa Distrófica Recessiva