Assuntos
Epidermólise Bolhosa/psicologia , Qualidade de Vida/psicologia , Inquéritos e Questionários , Adolescente , Adulto , Comparação Transcultural , Epidermólise Bolhosa/diagnóstico , Epidermólise Bolhosa/etnologia , Feminino , Hispânico ou Latino/estatística & dados numéricos , Humanos , Masculino , México/epidemiologia , Tradução , Adulto JovemRESUMO
BACKGROUND: The oral mucosa in patients with epidermolysis bullosa (EB) can be affected with different lesions and degrees of severity. However, patterns of oral lesions in distinct types of EB are still unclear. OBJECTIVES: The purpose of this study was to determine the frequency and distribution of four types of lesions (erythema, erosion, atrophy, and blister) for each oral site and to calculate the interobserver reliability for each type of lesion in each site. METHODS: Ninety-two patients with different EB types were assessed independently by an oral medicine specialist and a dermatologist. The degree of agreement was calculated by the intraclass correlation coefficient (ICC). RESULTS: The most affected oral site was the tongue, with the most frequent lesion being erythema and atrophy [54(58.7%) patients] for the oral medicine specialist and erosion [54(58.7%) patients] for the dermatologist. Patients with recessive dystrophic EB-severe generalized (RDEB-sev gen) showed the highest mean of sites involved by each lesion for both oral medicine and dermatology. The interobserver reliability on the total of lesions was excellent on only 3 sites: lower lip (ICC: 0.89; 95%CI:0.83-0.92), hard palate (ICC:0.85; 95%CI:0.72-0.91), and tongue (ICC:0.89; 95%CI:0.84-0.92), whereas the interobserver reliability calculated for each single oral lesion showed a lower agreement. CONCLUSION: Total distribution of sites involved by four types of lesions was higher in RDEB-sev gen than in the rest of EB types, with a predominance of erythema followed by erosion. The agreement on the type of lesion was found to be poor-moderate for many oral sites.
Assuntos
Epidermólise Bolhosa/patologia , Doenças da Boca/patologia , Mucosa Bucal/patologia , Adolescente , Adulto , Atrofia , Vesícula/patologia , Criança , Pré-Escolar , Dermatologia , Epidermólise Bolhosa Distrófica/patologia , Eritema/patologia , Feminino , Humanos , Lactente , Doenças Labiais/patologia , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Medicina Bucal , Palato/patologia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Doenças da Língua/patologia , Adulto JovemAssuntos
Colágeno Tipo VII/genética , Epidermólise Bolhosa/genética , Proteínas Mutantes/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Epidermólise Bolhosa/patologia , Epidermólise Bolhosa Distrófica , Éxons , Feminino , Genes Dominantes , Genes Recessivos , Estudos de Associação Genética , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , México , Pessoa de Meia-Idade , Linhagem , Deleção de Sequência , Adulto JovemRESUMO
Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is caused by mutations within the ED1 gene, which encodes a protein, ectodysplasin-A (EDA). Clinical characteristic are frontal bossing, saddle nose, pointed chin, a prominent supraorbital ridge with periorbital hyperpigmenta-tion, and anodontia. Those affected show great intolerance to heat. We report the first Mexican 2-year-old boy with an Ala349Thr missense mutation from Tamaulipas, México.
Assuntos
Pré-Escolar , Humanos , Masculino , Displasia Ectodérmica Anidrótica Tipo 1/genética , Ectodisplasinas/genética , Mutação de Sentido Incorreto/genética , Displasia Ectodérmica Anidrótica Tipo 1/patologiaAssuntos
Carcinoma Basocelular/patologia , Neoplasias de Cabeça e Pescoço/patologia , Neoplasias Cutâneas/patologia , Idoso , Carcinoma Basocelular/diagnóstico por imagem , Carcinoma Basocelular/cirurgia , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Masculino , Invasividade Neoplásica , Radiografia , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/cirurgiaRESUMO
Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is caused by mutations within the ED1 gene, which encodes a protein, ectodysplasin-A (EDA). Clinical characteristic are frontal bossing, saddle nose, pointed chin, a prominent supraorbital ridge with periorbital hyperpigmenta-tion, and anodontia. Those affected show great intolerance to heat. We report the first Mexican 2-year-old boy with an Ala349Thr missense mutation from Tamaulipas, México.
Assuntos
Displasia Ectodérmica Anidrótica Tipo 1/genética , Ectodisplasinas/genética , Mutação de Sentido Incorreto/genética , Pré-Escolar , Displasia Ectodérmica Anidrótica Tipo 1/patologia , Humanos , MasculinoRESUMO
Epidermolysis bullosa (EB) in Mexico continues to be a rare genodermatosis that is still unknown for most of the health care professionals in the country. The spirit of DebRA MEXICO was born in 1994 when the Mexican health care team started to see patients with the main purpose to provide medical care, genetic counseling, and advice to patients with EB and their families; to promote collaboration and exchange information among people with EB; to research and find new therapeutic approaches; and finally, to diffuse knowledge and raise awareness of the issues of EB in general public and health care professionals.