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1.
Orphanet J Rare Dis ; 15(1): 1, 2020 01 03.
Artigo em Inglês | MEDLINE | ID: mdl-31900176

RESUMO

BACKGROUND: Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes. METHODS: A 90-question/item survey was developed to collect demographics, diagnostic data, management practices, and burden of illness information for patients with epidermolysis bullosa living in the United States. Recruitment was conducted via email and social media in partnership with epidermolysis bullosa patient advocacy organizations in the United States, and the survey was conducted via telephone interview by a third-party health research firm. Respondents aged ≥ 18 years with a confirmed diagnosis of epidermolysis bullosa or caring for a patient with a confirmed diagnosis of epidermolysis bullosa were eligible to participate in the survey. RESULTS: In total, 156 responses were received from patients (n = 63) and caregivers (n = 93) representing the epidermolysis bullosa types of simplex, junctional, and dystrophic (subtypes: dominant and recessive). A large proportion of patients (21%) and caregivers (32%) reported that the condition was severe or very severe, and 19% of patients and 26% of caregivers reported a visit to an emergency department in the 12 months prior to the survey. Among the types/subtypes represented, recessive dystrophic epidermolysis bullosa results in the greatest wound burden, with approximately 60% of patients and caregivers reporting wounds covering > 30% of total body area. Wound care is time consuming and commonly requires significant caregiver assistance. Therapeutic options are urgently needed and reducing the number and severity of wounds was generally ranked as the most important treatment factor. CONCLUSIONS: Survey responses demonstrate that epidermolysis bullosa places a considerable burden on patients, their caregivers, and their families. The limitations caused by epidermolysis bullosa mean that both patients and caregivers must make difficult choices and compromises regarding education, career, and home life. Finally, survey results indicate that epidermolysis bullosa negatively impacts quality of life and causes financial burden to patients and their families.


Assuntos
Epidermólise Bolhosa/epidemiologia , Adolescente , Adulto , Idoso , Cuidadores/estatística & dados numéricos , Efeitos Psicossociais da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Inquéritos e Questionários , Estados Unidos/epidemiologia , Adulto Jovem
2.
J Invest Dermatol ; 136(2): 352-358, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26802230

RESUMO

Epidermolysis bullosa (EB), a group of complex heritable blistering diseases, is the topic of triennial research meetings organized by DEBRA International, Vienna, Austria, the network of national EB patient advocacy organizations. The DEBRA 2015 Research Conference, held in May 2015, brought together investigators and clinicians from around the world working at the forefront of EB research. Discussing the state-of-the-art approaches from a wide range of disciplines, there was a palpable excitement at this conference brought about by the optimism about applying new sequencing techniques, genome editing, protein replacement, autologous and allogeneic stem cell therapy, innovations in cancer biology, revertant mosaicism, and induced pluripotent stem cell techniques, all of which are aimed at developing new therapies for EB. Many in the field who have participated in EB research for many years were especially enthusiastic and felt that, possibly for the first time, the field seems uniquely poised to bring these new tools to effectively tackle EB. Multiple complementary approaches are currently in motion toward improved quality of life and eventually a cure for patients suffering from EB, a currently intractable disease.


Assuntos
Epidermólise Bolhosa/genética , Epidermólise Bolhosa/terapia , Terapia Genética/métodos , Terapia de Alvo Molecular/métodos , Animais , Áustria , Transplante de Medula Óssea/métodos , Congressos como Assunto , Modelos Animais de Doenças , Drosophila , Epidermólise Bolhosa/diagnóstico , Previsões , Humanos , Internacionalidade , Camundongos , Transplante de Células-Tronco/métodos , Resultado do Tratamento , Peixe-Zebra
3.
Pediatr Dermatol ; 31(2): 159-62, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-23721227

RESUMO

Junctional epidermolysis bullosa (JEB) is a particularly devastating type of epidermolysis bullosa, especially in the newborn period. Data about the number of new cases of JEB in the United States were collected from the records of the Dystrophic Epidermolysis Bullosa Research Association of America (DebRA) nurse educator. Seventy-one children with JEB were reported to have been born in the 5 years between 2007 and 2011, reflecting an incidence of at least 3.59 per million per year, significantly higher than previously estimated (2.04 per million). There was a high prevalence of morbidity and infant mortality of at least 73%, as 52 of the 71 cases proved fatal by June 2012. These data emphasize the need for future research to develop treatment and ultimately a cure for this disorder.


Assuntos
Epidermólise Bolhosa Juncional/epidemiologia , Epidermólise Bolhosa Juncional/mortalidade , Feminino , Humanos , Incidência , Lactente , Mortalidade Infantil , Recém-Nascido , Masculino , Prevalência , Estudos Retrospectivos , Taxa de Sobrevida , Estados Unidos/epidemiologia
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