RESUMEN
Neonatal sucking blisters result from vigorous sucking on hand or forearm in utero. Clinically, one observes a tense, fluid-filled blister, which when ruptured forms an erosion. We report a female neonate with a sucking blister on the distal dorsal aspect of her left forearm. These benign bullae should be differentiated from other diseases of the newborn through their presentation, characteristic morphology, and self-limiting course.
Asunto(s)
Vesícula/congénito , Conducta en la Lactancia , Vesícula/diagnóstico , Vesícula/patología , Diagnóstico Diferencial , Femenino , Feto , Antebrazo/patología , Humanos , Recién NacidoRESUMEN
A 13-year-old girl was referred by her general practitioner with acute worsening exertional dyspnoea and sudden onset of left-sided chest pain. There was no associated trauma, palpitations or syncope. Clinical examination revealed that the left lung was hyper-resonant on percussion with reduced air entry on auscultation. Chest X-ray showed a left tension pneumothorax. She was treated conservatively with chest drain. Follow-up X-ray revealed multiple bullae within her left lung. Unfortunately, she redeveloped a pneumothorax and was sent to a tertiary centre. She was under the care of the paediatric cardiothoracic surgeons who organised a CT thorax and performed a lobectomy to remove the bullae. She was discharged from the tertiary centre and currently being followed up under the care of the paediatrician in the district general hospital. She have not developed any further pneumothoraxes.
Asunto(s)
Síndrome del Nevo Basocelular/complicaciones , Vesícula/congénito , Neoplasias Pulmonares/congénito , Neumotórax/congénito , Adolescente , Femenino , HumanosRESUMEN
Congenital bullous emphysema is defined as large bullae involving at least one-third of a hemithorax. We describe the case of a 32-year-old female who presented with increasing shortness of breath. Radiological investigations revealed severe emphysema with hyperexpansion of the right lung and a mediastinal shift to the left. A lung perfusion scan showed reduced perfusion in the right lung. The patient underwent a right pneumonectomy with a diagnosis of congenital bullous emphysema. She was doing well 6 years later.
Asunto(s)
Vesícula/congénito , Enfisema Pulmonar/congénito , Adulto , Vesícula/diagnóstico , Vesícula/cirugía , Disnea/etiología , Femenino , Humanos , Imagen de Perfusión , Neumonectomía , Enfisema Pulmonar/diagnóstico , Enfisema Pulmonar/cirugía , Índice de Severidad de la Enfermedad , Tomografía Computarizada por Rayos X , Resultado del TratamientoAsunto(s)
Vesícula/cirugía , Neumonectomía/efectos adversos , Aspergilosis Pulmonar/microbiología , Vesícula/congénito , Vesícula/diagnóstico , Humanos , Masculino , Persona de Mediana Edad , Aspergilosis Pulmonar/diagnóstico , Aspergilosis Pulmonar/cirugía , Reoperación , Toracotomía , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
Hereditary blistering skin diseases were described more than hundred years ago, but only the rapid scientific developments in molecular genetics in the last years have revealed the full spectrum of these diseases, delineated disease mechanisms and pointed to novel therapeutic strategies. Not only the classic forms of epidermolysis bullosa, but also new syndromic forms with multiorgan involvement, or skin fragility disorders that manifest with erosive, crusty lesions and pigment anomalies, instead of marked skin blistering belong to the group of hereditary blistering diseases. Understanding the biological functions of skin structures that provide intraepidermal and dermo-epidermal adhesion has furthered development of novel cell- and molecule-based therapies that are currently being tested in preclinical and clinical pilot trial settings.
Asunto(s)
Vesícula/terapia , Pruebas Genéticas/métodos , Enfermedades Cutáneas Genéticas/diagnóstico , Enfermedades Cutáneas Genéticas/terapia , Vesícula/congénito , Vesícula/diagnóstico , Humanos , Enfermedades Cutáneas Genéticas/clasificaciónAsunto(s)
Vesícula/congénito , Vesícula/patología , Nevo/congénito , Nevo/patología , Adulto , Biopsia , Duodeno/patología , Endoscopía Gastrointestinal , Histocitoquímica , Humanos , Yeyuno/patología , Hígado/patología , Masculino , Radiografía Abdominal , Piel/patología , Estómago/patología , SíndromeAsunto(s)
Mutación del Sistema de Lectura/genética , Proteínas de la Membrana/genética , Proteínas de Neoplasias/genética , Trastornos por Fotosensibilidad/genética , Enfermedades Cutáneas Genéticas/diagnóstico , Adolescente , Vesícula/congénito , Vesícula/patología , Análisis Mutacional de ADN , Femenino , Humanos , Linaje , Fenotipo , Trastornos por Fotosensibilidad/congénito , Hermanos , Síndrome , TurquíaAsunto(s)
Vesícula/congénito , Vesícula/etiología , Conducta en la Lactancia , Diagnóstico Diferencial , Femenino , Humanos , Recién Nacido , MuñecaRESUMEN
Epitheliogenesis imperfecta has been reported in several animal species, and its inheritance is suspected to be autosomal recessive. This term has been used to describe two different diseases, namely epidermolysis bullosa and aplasia cutis congenita, which are both grossly characterized by an absence of epidermis or mucosal epithelium and are most frequently reported on the distal limbs and oral cavity. Epitheliogenesis imperfecta has been described in swine, but the literature on the subject is scarce. To better characterize this condition, 70 piglets with congenital skin defects macroscopically compatible with epitheliogenesis imperfecta were examined. In all but 1 case, only 1 piglet per litter was affected. Of the affected piglets, 65 (93%) were male, suggesting a sex-related problem. More than half of the piglets had multiple skin lesions. All defects were located on the caudal half of the body, and none was found in the oral cavity. Most lesions were characterized by an absence of epidermis and part of the dermis and adnexae. Adnexal dysplasia was also observed at several sites, both with and without epitheliogenesis imperfecta, suggesting a developmental problem. Fluid-filled, congenital subcutaneous bullae were noted grossly on 7 piglets; their relationship, if any, with epitheliogenesis imperfecta remains unknown. As the term epitheliogenesis imperfecta has been used in cases of epidermolysis bullosa, the term aplasia cutis congenita seems to be more appropriate to describe these lesions in swine.
Asunto(s)
Displasia Ectodérmica/veterinaria , Enfermedades de los Porcinos/patología , Animales , Animales Recién Nacidos , Vesícula/congénito , Vesícula/patología , Vesícula/veterinaria , Displasia Ectodérmica/genética , Displasia Ectodérmica/patología , Femenino , Masculino , Glándulas Sudoríparas/patología , Porcinos , Enfermedades de los Porcinos/congénito , Enfermedades de los Porcinos/genéticaRESUMEN
A 1-day-old male newborn was born with respiratory distress, low birth weight, hepatosplenomegaly, and bullous targetoid skin lesions over the face, back, buttocks, and extremities. A diagnosis of early congenital syphilis was made based on a treponemal serologic test. Pathologic examination of the skin lesion showed scattered dyskeratotic cells in the epidermis and interface dermatitis consistent with erythema multiforme. No spirochete could be found in the skin sections staining with Warthin-Starry stain. Using nested polymerase chain reaction, treponemal genomic DNA fragments encoding DNA polymerase I were detected.
Asunto(s)
Vesícula/microbiología , Eritema Multiforme/microbiología , Reacción en Cadena de la Polimerasa , Sífilis Cutánea/patología , Treponema pallidum/aislamiento & purificación , Biopsia , Vesícula/congénito , Vesícula/patología , ADN Bacteriano/aislamiento & purificación , Diagnóstico Precoz , Eritema Multiforme/congénito , Eritema Multiforme/patología , Humanos , Recién Nacido , Recien Nacido Prematuro , Masculino , Sífilis Cutánea/congénito , Treponema pallidum/genéticaRESUMEN
La evaluación de los pacientes con anomalías congénitas del tracto urinario inferior requiere frecuentemente múltiples modalidades de imagen para el diagnóstico y el planteamiento de la corrección quirúrgica. Este artículo revisa una serie de anomalías congénitas frecuentes e infrecuentes que afectan al uréter dista¡ y a la vejiga, e ilustra la eficacia de las placas simples, urografía, cistografía miccional y ecografía en el diagnóstico y manejo de estas alteraciones. Las anomalías del uréter distal incluyen ureteroceles simples, ureteroceles ectópicos y uréteres ectápicos en múltiples localizaciones. En las anomalías vesicales incluimos divertículos, duplicación vesical tanto en el plano frontal como sagital y anomalías del uraco tales como persistencia del uraco, quiste uracal y divertículo uracal. Las bases embriológicas y patológicas de los diferentes hallazgos radiográficos se discuten en los casos apropiados (AU)
Asunto(s)
Femenino , Preescolar , Lactante , Masculino , Niño , Humanos , Recién Nacido , Uréter/anomalías , Uréter , Enfermedades Ureterales/congénito , Enfermedades Ureterales/patología , Enfermedades Ureterales/terapia , Sistema Urinario/anomalías , Sistema Urinario/patología , Sistema Urinario , Ureterocele/congénito , Ureterocele/diagnóstico , Ureterocele , Ureterocele , Vesícula/complicaciones , Vesícula/congénito , Vesícula/diagnóstico , Vesícula , Vesícula/terapia , Vejiga Urinaria/anomalías , Vejiga Urinaria , Vejiga Urinaria/patología , Reflujo Vesicoureteral/complicaciones , Reflujo Vesicoureteral/congénito , Reflujo Vesicoureteral/diagnóstico , Reflujo Vesicoureteral , Sistema Urogenital/anomalías , Sistema UrogenitalRESUMEN
Congenital poikiloderma is an uncommon hereditary disorder. It has been reported in association with various syndrome. No case has previously been reported from this environment. We report a case of congenital poikiloderma in a two and a half year old female Nigerian associated with unusual generalised hypopigmentation and acral blisters at birth. The child subsequently developed macular hyperpigmentation on an erythematous background and atrophy of the skin. Although she had some features which were suggestive of Rothmund-Thomson syndrome (RTS), the presence of hypopigmentation at birth, along with acral blistering, was noted to be peculiar to this child. We, therefore, feel that this case presents a distinct variant of congenital poikiloderma that has not been described previously.
Asunto(s)
Vesícula/patología , Hipopigmentación/patología , Síndrome Rothmund-Thomson/patología , Vesícula/congénito , Preescolar , Extremidades , Femenino , Humanos , Hipopigmentación/congénito , Discapacidad Intelectual/patologíaRESUMEN
Neonatal sucking blisters appears as unilateral or bilaterally symmetrical bullae or erosions involving the distal upper extremities at birth. They represent minor self-inflicted trauma, presumably the result of a vigorous intrauterine sucking reflex. Recognizing this benign self-limited condition avoids unnecessary tests and alleviates anxiety on the part of the infant's family and physicians.
Asunto(s)
Vesícula/etiología , Dermatosis de la Mano/etiología , Conducta en la Lactancia , Vesícula/congénito , Femenino , Dermatosis de la Mano/congénito , Humanos , Recién NacidoRESUMEN
Congenital erosions and vesicles that heal with reticulate scarring comprise a new entity first described in 1985 in 3 girls aged 3, 5 and 6 years. Two years later, an 8-year-old boy in whom the skin lesions were accompanied by neurological disorders was described, as in one of the patients described in the 1985 study. In 1990, similar findings were reported in a neonate, and recently the 7th case has been reported in the American literature. We describe an 8-month-old infant born with cutaneous lesions that subsequently formed reticulate scars peculiar to this clinical entity, which is characterized by variable clinical and histological expression.
Asunto(s)
Cicatriz/etiología , Enfermedades Cutáneas Vesiculoampollosas/congénito , Tejido Adiposo/patología , Vesícula/congénito , Vesícula/patología , Cicatriz/patología , Estudios de Seguimiento , Humanos , Hipopigmentación/etiología , Hipopigmentación/patología , Lactante , Masculino , Esclerosis , Enfermedades Cutáneas Vesiculoampollosas/patología , Úlcera Cutánea/congénito , Úlcera Cutánea/patología , Cicatrización de HeridasRESUMEN
Kindler's syndrome occurred in a 13-year-old boy with parental consanguinity. The patient had acral congenital blistering and photosensitivity, both regressive, at 12 years of age, together with diffuse progressive poikiloderma, marked cutaneous atrophy, mild hyperkeratosis of the palms, gingival hypertrophy and fragility, and anal stenosis. The ultrastructural study of bullae induced by rubbing showed clefts in three levels of the dermoepidermal junction zone. A review of 14 cases in the literature consistent with Kindler's syndrome showed this to be a definite clinical entity among the other bullous hereditary poikilodermas. In two cases, ultrastructural studies showed intraepidermal, junctional, and dermal cleavage. This syndrome must be differentiated from congenital epidermolysis bullosa, Weary's syndrome, and the other bullous hereditary poikilodermas.