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Query: UMLS:C0036690 (sepsis)
 59,461 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nine cases of epidermolysis bullosa of the newborn are reported. Three cases corresponded to the simple type; 4 were dystrophic and two belonged to the letal phase. Those of the letal variety died from septicemia, while simple and dystrophic varieties are under hospital control at the out-patient department.
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PMID:[Epidermolysis bullosa of the newborn]. 46 88

The clinicopathological features of 22 cases of the Dowling-Meara form of epidermolysis bullosa simplex (DM-EBS) (11 males, 11 females; aged 5 days-46 years) were reviewed using data collected over a 10-year period. All cases presented clinically within the first 5 days of life. Early blisters were often large (up to 5 cm in diameter), and were mostly acral and particularly periungual. Some cases presented with more widespread erosive skin changes, and two neonates with extensive skin involvement died as a result of overwhelming sepsis. After the neonatal period a different pattern of blistering occurred with more proximal haemorrhagic, herpetiform clusters of blisters. Central healing with recurrent blistering at the margins of these areas was frequently noted. Other physical signs included varying degrees of intra-oral blistering, nail shedding, nail dystrophy, minor scarring, palmo-plantar keratoderma, a lack of seasonal variation and improvement during later childhood. The underlying pathological mechanism in DM-EBS is basal cell cytolysis, or rarely acantholysis, in association with tonofilament (TF) clumping. TF clumping was found in lesional, perilesional and some non-lesional skin, suggesting that the tonofilament abnormality may be of primary aetiological significance in DM-EBS. TF clumping may be due to specific keratin abnormalities because the altered TF were found in a distribution similar to the known distribution of the basal cell keratins, K5 and K14. The level of blistering was invariably very low within the epidermal basal layer and often less than 0.5 microns above the basement membrane. We conclude that DM-EBS is a distinct, and probably under-recognized genodermatosis which tends to have a good prognosis. However, the disease can occasionally be severe, especially during the neonatal period, when it may be confused with junctional or severe recessive dystrophic EB. Electron microscopy is the best means for demonstrating the characteristics cytoskeletal disorder and confirming the diagnosis.
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PMID:Epidermolysis bullosa simplex (Dowling-Meara). A clinicopathological review. 161 Jun 81

The coexistence of congenital pyloric atresia (PA) and epidermolysis bullosa (EB) in newborns is a rare but distinct association. Mortality is high. In particular, a universally fatal outcome has been reported in neonates born with the junctional type of EB and PA. This has led some investigators to advocate that surgical correction of PA be withheld to obviate needless suffering. We treated five patients, including one set of siblings. Maternal hydramnios and nonbilious vomiting were constant features. Delayed passage of meconium was found in four. Plain x-rays demonstrated gastric dilatation in an otherwise gasless abdomen. Blistering skin lesions were noted at birth in four and developed soon after in the last patient. All lesions were determined to be junctional EB based on electronmicroscopy. The clinical course for these children has been far better than the literature predicts. Successful repair of PA was performed after appropriate stabilization. One infant died at 4 months of age of staphyloccal septicemia, malnutrition, and sepsis from chronic urinary tract obstruction. Another child, born with dysmorphic features to consanguineous parents, is 9 years old and has a seizure disorder. The remaining three are alive and well at 17 months, and 9 and 16 years. The oldest two are siblings. In all four surviving patients, the blistering nonscarring lesions were found to significantly improve in severity, duration, and occurrence with age. Presently, these lesions are mild and require little therapy. Their nails, initially normal at birth, have become discoloured, thickened, and dystrophic. The management of pitted, carious, and yellow teeth is currently the major problem.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Congenital pyloric atresia and junctional epidermolysis bullosa: a report of long-term survival and a review of the literature. 181 71

Peripheral blood mononuclear cells (PBMC) from patients with severe forms of inherited epidermolysis bullosa (EB) are deficient in functions governing cellular immunity. Very low levels of interferon-gamma (IFN-gamma), interleukin-1 (IL-1), and interleukin-2 (IL-2) were produced in vitro by PBMC from patients with severe forms of EB (recessive dystrophic and dominant dystrophic) as compared to sex- and age-matched controls. Lymphokine production by PBMC from patients with junctional EB was somewhat greater than that from patients with dystrophic forms of EB but was significantly less than that from controls. The production of interferon-alpha was not found to be altered in the severe forms of EB. The PBMC from dystrophic types of EB were also deficient in production of tumor necrosis factors (TNF-alpha and TNF-beta). The degree of the reduction in immune functions was directly related to the severity of skin involvement, with recessive dystrophic EB having the lowest level of cytokine production. This reduced production of monokines and lymphokines may be partially responsible for the progression of cutaneous infections to septicemia and for the metastasis of cutaneous squamous cell carcinomas in patients with severe forms of dystrophic EB.
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PMID:Patients with severe forms of inherited epidermolysis bullosa exhibit decreased lymphokine and monokine production. 212 88

Natural killer (NK) cell activity was evaluated in 34 patients with inherited forms of epidermolysis bullosa (EB). While the NK activity of EB simplex patients did not differ from that of control subjects, persons with more severe forms of EB demonstrated significant reductions in NK activity. The degree of this reduction was directly related to the severity of the skin involvement by EB with recessive dystrophic EB patients having the lowest NK activity. The absolute number of cells bearing NK surface markers in the peripheral blood of patients with recessive dystrophic EB did not differ from that of normal control subjects. This reduced NK activity may be at least partially responsible for the occurrence of septicemia in some persons with severe forms of EB and for the development of metastatic squamous cell carcinoma in patients with dystrophic EB.
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PMID:Natural killer cell activity is reduced in patients with severe forms of inherited epidermolysis bullosa. 273 Jan

Epidermolysis bullosa (EB) is a rare hereditary skin disease of infancy that can involve the mucous membranes of the oral cavity. Laryngotracheal involvement is rare. The disease is characterized by bullae formation in response to minor trauma. There are at least 18 described types of EB, however, there are 3 basic categories. These are simplex (with disruption above the basement membrane), dystrophic (in which disruption is below the basement membrane), and junctional (in which the split is within the lamina lucida). The prognosis of the different types ranges from early death usually secondary to overwhelming sepsis, to long term survivals with lack of growth retardation or significant dystrophic scarring. Presently, survival appears to be the only reliable criteria for distinguishing the benign and lethal forms of EB. Airway obstruction secondary to laryngotracheal involvement should be considered in any child with epidermolysis bullosa presented with symptoms of respiratory distress. Because there are few predictive prognostic indicators in the neonatal period, tracheotomy should be considered early in an effort to prevent further laryngeal injury from intubation, in those patients that will survive.
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PMID:Laryngotracheal involvement in epidermolysis bullosa. 276

A newborn male infant with epidermolysis bullosa letalis died at age 6 weeks of septicemia. He had many congenital ectodermal abnormalities and a rudimentary thymus. The spleen had no germinal centers and the lymph nodes lacked follicles. Cytotrophoblast of the amniochorion was sparse and the amniotic epithelium was distorted. Immunohistologic studies of amniotic epithelium revealed the unprecedented presence of trophoblast antigens. Before birth of the patient, the parents had a 5-year history of infertility; after death of the patient, the mother sustained a ruptured tubal pregnancy that necessitated blood transfusions and surgical removal of the tube. She subsequently became pregnant a third time and was delivered of a normal child. The wife shared four major histocompatibility (HLA) antigens with her husband. The parents' immunogenetic characteristics and the immunopathologic features and extraembryonic membranes of the child are considered in terms of maternal responses to trophoblast antigens.
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PMID:Epidermolysis bullosa letalis: an immunogenetic disease of extraembryonic ectoderm? 327 96

A two-hour-old female with epidermolysis bullosa hereditaria (EBH) and a congenital esophageal atresia at the level of the sixth thoracic vertebra is described. A tube gastrostomy was performed on day 3; she died of sepsis on day 6. On autopsy, esophageal atresia was membranous without any fistula.
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PMID:A case of epidermolysis bullosa dystrophicans with congenital esophageal atresia. 379 46

Intracardiac masses are rare in infants and children. Early detection is essential to their successful management. We present seven patients in whom echocardiography established the diagnosis and was crucial in the management. Three of the masses were primary cardiac tumors and four were thrombi. Patient 1: an infant with a calcified left ventricular fibroma. Patient 2: a neonate who presented with cyanosis due to obstruction of the right ventricular inflow tract by a fibroblastic tumor. Patient 3: an infant with a right atrial myxoma presenting as sepsis. Patient 4: a child who had a pulmonary embolus after a pulmonary valvotomy and was found to have a right ventricular thrombus. Patient 5: a child with a right atrial thrombus following a Fontan procedure for univentricular atrioventricular connection. Patient 6: a child with a left ventricular thrombus due to a dilated cardiomyopathy in association with epidermolysis bullosa. Patient 7: An infant with bilateral lobar emphysema, an aorticopulmonary window with left ventricular fibroelastosis, who developed a left ventricular thrombus.
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PMID:Echocardiography of intracardiac filling defects in infants and children. 382 62

Group G streptococci were isolated from the blood of seven neonates over a five-year period at the New York Hospital. All but two were born near term. All presented clinically with signs and symptoms of neonatal sepsis. Only one case was associated with a major complication--epidermolysis bullosa; this patient died. Two presented as late-onset sepsis at 11 and 12 days of age. Six of the seven responded promptly to antibiotic therapy. A one-year survey was carried out of colonization with groups B and G streptococci at the time of discharge (day 3). Colonization with group G streptococci varied between 41 and 76% of babies each month. Group B streptococcal colonization ranged between 1 and 11%. Statistical analysis suggested that colonization with these organisms may be a mutually exclusive phenomenon.
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PMID:Group G streptococcal colonization and sepsis in neonates. 703 Dec 14


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