Cases reported "Urologic Diseases"

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1/4. epidermolysis bullosa simplex (Dowling-Meara type) associated with pyloric atresia and congenital urologic abnormalities.

    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.
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ranking = 1
keywords = epidermolysis bullosa, epidermolysis, bullosa
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2/4. Management of urinary tract in children with epidermolysis bullosa.

    Epidermolysis bullosa is a group of rare genetic disorders characterized by noninflammatory blistering lesions of the skin occurring after minor mechanical trauma. In association with junctional epidermolysis bullosa, a syndrome of pyloric atresia has occasionally been noted in the literature. Several infants who had this combined disorder have been reported to have severe genitourinary tract involvement. Most of these patients have died at an early age because of severe urinary tract involvement. We describe a rare survivor who was initially treated with urinary diversion. Subsequent attempts at undiversion of this patient were unsuccessful. He is presently stable following rediversion. The entities of e. bullosa and e. bullosa/pyloric atresia are reviewed with emphasis on urologic associations.
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ranking = 4.0937178203962
keywords = epidermolysis bullosa, epidermolysis, bullosa
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3/4. epidermolysis bullosa dystrophica with urinary tract involvement.

    A case of epidermolysis bullosa dystrophica ( EBD ), neonatally corrected atresia of the pylorus and early infantile development of urinary tract manifestations is reported. Owing to misinterpretation of radiological findings, instrumental treatment of the urethra was employed. It resulted in complete and permanent obliteration of the lumen. While the skin disorder has remained slight to moderate in severity, recurrent keratitis has resulted in impaired vision.
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ranking = 1
keywords = epidermolysis bullosa, epidermolysis, bullosa
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4/4. Epidermolysis bullosa: a review of the associated urological complications.

    PURPOSE: Epidermolysis bullosa is a devastating rare disorder that rarely presents with urological complications. We report our experience with and review the literature on this disorder. MATERIALS AND methods: Two brothers with epidermolysis bullosa presented to our center with severe dysuria and urinary tract obstruction caused by meatal stenosis. The obstruction was temporarily relieved by meatotomy but recurrent obstructive skin blistering with severe dysuria required ureterosigmoidostomy for palliation of symptoms. RESULTS: Both children tolerated ureterosigmoidostomy well with 1 requiring bicarbonate supplementation for metabolic acidosis. Ureterosigmoidostomy greatly improved quality of life, and both children have complete symptom relief. CONCLUSIONS: Epidermolysis bullosa is usually a severe illness associated with a poor prognosis. Crippling urological symptoms may develop due to recurrent skin blistering causing severe dysuria and secondary obstruction. Ureterosigmoidostomy, despite its complications, provides significant palliation for patients with recalcitrant symptoms.
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ranking = 1.1066214328946
keywords = epidermolysis bullosa, epidermolysis, bullosa
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