ABSTRACT
Lesões melanocíticas adquiridas assemelhando-se à melanoma têm sido descritas nos principais grupos da Epidermólise bolhosa, e referidas como "Nevos da Epidermólise bolhosa''. Induzem facilmente ao erro diagnóstico, apesar de nenhuma transformação maligna ter sido descrita. Relatamos o desenvolvimento de um nevo melanocítico adquirido grande no local de bolhas recorrentes em uma criança de 5 anos portadora de Epidermólise bolhosa simples. O padrão dermatoscópico global foi sugestivo de benignidade, e os achados histopatológicos foram compatíveis com um nevo melanocítico composto. Este é o primeiro caso de um Nevo da Epidermólise bolhosa publicado na literatura brasileira.
Acquired melanocytic lesions resembling malignant melanoma have been described in all major categories of Epidermolysis bullosa and referred to as "Epidermolysis bullosa nevi''. They easily induce to diagnostic error, although no malignant transformation has been reported. We report the development of a large acquired melanocytic nevus at a site of recurrent blisters in a 5-year-old child with Epidermolysis bullosa simplex. The global dermoscopic pattern was suggestive of benignity, and the histopathological findings were compatible with a compound melanocytic nevus. This is the first published case of Epidermolysis bullosa nevi in Brazilian literature. Despite their benign behavior, we emphasize the importance of regular clinical and dermoscopic monitoring, since a malignant course still cannot be totally excluded.
Subject(s)
Child, Preschool , Female , Humans , Epidermolysis Bullosa Simplex/complications , Nevus, Pigmented/complications , Skin Neoplasms/complications , Nevus, Pigmented/diagnosis , Skin Neoplasms/diagnosisABSTRACT
Epidermólise bolhosa (EB) é um conjunto de afecções bolhosas, de caráter hereditário, com diferentes quadros clínicos e diferentes modos de transmissão genética. Os indivíduos evoluem com bolhas na pele e mucosas, que surgem espontaneamente ou após mínimos traumatismos. OBJETIVO: Descrever as manifestações otorrinolaringológicas, as complicações esofágicas relacionadas à EB e a experiência na conduta de pacientes com estenose esofágica decorrente da EB. CASUÍSTICA E MÉTODO: Estudo descritivo de 60 pacientes com EB, atendidos de 1999 a 2006, no serviço de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço do Hospital X, centro de referência para EB. RESULTADOS: Dos 60 pacientes com idade média de 14,5 anos, 28 (46,6 por cento) eram mulheres e 32 (53,4 por cento) homens. Oito (13,4 por cento) tinham o diagnóstico de EB simples, 51 (85 por cento) EB distrófica e um (1,6 por cento) caso de EB adquirida. Lábios, boca, língua e pavilhão auricular foram os locais mais acometidos (32 pacientes - 53,3 por cento). Disfagia foi encontrada em 28 pacientes (46,6 por cento). Após dilatação do esôfago todos apresentaram remissão do sintoma. CONCLUSÃO: EB é uma doença rara e os pacientes devem ser encaminhados para tratamento em centros de referência. Portanto, é fundamental que os médicos envolvidos com os cuidados de pacientes com EB conheçam as condutas necessárias para melhorar a qualidade do tratamento sem prejuízos adicionais.
Epidermolysis bullosa (EB) is a group of skin diseases with different clinical manifestations and varied inheritance patterns. Blisters may appear spontaneously or following minimal trauma to the skin or mucosa. AIM: this paper aims to describe the otorhinolaryngological manifestations and esophageal complications related to EB, and the experience in treating patients with esophageal stenosis secondary to this disease. MATERIALS AND METHOD: this descriptive study enrolled 60 patients with EB seen from June 1999 to December 2006 at the Head and Neck Surgery Service of X Hospital, a reference center for EB. RESULTS: the patients' mean age was 14.5 years. Twenty-eight (46.6 percent) were females and 32 (53.4 percent) were males. Eight (13.4 percent) were diagnosed with epidermolysis bullosa simplex, while 51 (85 percent) had epidermolysis bullosa dystrophica; one (1.6 percent) patient had one acquired EB. Lips, mouth, tongue and ears were the most frequently involved sites (32 patients - 53.3 percent). Dysphagia was found in 28 patients (46.6 percent). After esophageal dilatation the symptoms subsided. CONCLUSION: EB is a rare disease and patients must be sent for treatment at reference centers. Physicians treating patients for EB must be aware of the measures required to improve the quality of the treatment provided without putting the patients in harm's way.
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Young Adult , Epidermolysis Bullosa/complications , Esophageal Diseases/etiology , Otorhinolaryngologic Diseases/etiology , Case-Control Studies , Deglutition Disorders/etiology , Epidermolysis Bullosa Dystrophica/complications , Epidermolysis Bullosa Dystrophica/therapy , Epidermolysis Bullosa Simplex/complications , Epidermolysis Bullosa Simplex/therapy , Epidermolysis Bullosa/therapy , Esophageal Diseases/therapy , Young AdultABSTRACT
La Epidermolisis Bulosa (EB) es un conjunto de enfermedades genéticas que afectan la zona de unión dermo-epidérmica y que presentan lesiones ampollares y erosiones en la piel y mucosas de todo el organismo. Los tejidos blandos y duros de la cavidad oral son afectados con diferente intensidad según la proteína alterada por la enfermedad. El compromiso máxilo-facial conlleva dificultades para la alimentación, higiene y tratamiento odontológico de los pacientes, es por esto que el pediatra, como cabeza de un equipo multidisciplinario que trata a los niños afectados, debe tener presente la importancia de derivar a sus pacientes al odontólogo para que se inicien las medidas preventivas y los tratamientos oportunos y así evitar mayores complicaciones en estos niños. Este trabajo pretende reforzar el conocimiento de las manifestaciones orales de la EB, para que la derivación de los pacientes al odontólogo sea precoz y prioritaria.
Subject(s)
Humans , Child , Mouth Diseases/etiology , Mouth Diseases/therapy , Epidermolysis Bullosa/classification , Epidermolysis Bullosa/complications , Epidermolysis Bullosa/genetics , Epidermolysis Bullosa Dystrophica/complications , Epidermolysis Bullosa Simplex/complications , Epidermolysis Bullosa, Junctional/complications , Microstomia/etiology , Mouth Mucosa/pathologyABSTRACT
We report a case of epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM), which was associated with congenital pyloric atresia (PA) and various urologic abnormalities, a diagnosis confirmed by immunofluorescence mapping and electron microscopic findings. Immunofluorescent mapping showed the serum from a patient with bullous pemphigoid faintly binding to the floor of the blister, and monoclonal antibodies against type IV and VII collagens were also stained on the floor of the blister. Electron microscopy showed epidermolytic cleavage and prominent clumping of tonofilaments in the basal and suprabasal keratinocytes. An abdominal radiograph and barium swallow showed a complete obstruction at the pyloric channel level. The widespread bullae healed without any scar formation and the bullae formation was localized on the extremities after 3 months of age without any specific treatment. Multiple urologic abnormalities such as bilateral hydronephrosis, hydroureter and a distended bladder with trabeculation were observed at 12 months of age. Currently, with the patient at 4 years of age, bullae still appear on the hands and feet and nail shedding can be observed. The patient's father, a paternal uncle and a paternal aunt had had similar bullous eruptions in infancy, all of which had improved spontaneously by the age of one.