Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036690 (sepsis)
 59,461 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Generalized atrophic benign epidermolysis bullosa (GABEB) is an autosomal recessive form of junctional epidermolysis bullosa, with milder clinical features than the Herlitz subtype. A 25-year-old man presented with the clinical and histological findings of GABEB. At the initial visit, laboratory tests revealed that he also had chronic renal failure (CRF). Usually, GABEB has a good prognosis. However, in this case, the patient had CRF as an associated complication. He died of an intracranial haemorrhage combined with sepsis after 3 weeks of hospitalization. This case suggests that renal complications can occur in this relatively mild form of epidermolysis bullosa, and may contribute to morbidity and premature mortality.
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PMID:Generalized atrophic benign epidermolysis bullosa--poor prognosis associated with chronic renal failure. 1084 98

The epidermolysis bullosa-pyloric atresia-obstructive uropathy (EB-PA-OU) association is a rare, but well-described multisystem disease. While the prognosis at this time is still poor, an increasing number of patients are surviving to adolescence with aggressive care. It is important to understand this syndrome in order to anticipate medical complications and offer preventive strategies where possible. Prompt and expectant management of obstructive uropathy is crucial in these patients. Evidence of ureterovesicular obstruction may require bowel diversion, as excision of the obstructed ureterovesicular junction with reimplantation is often associated with a high risk of reobstruction. Many newborns succumb to sepsis or dehydration and electrolyte imbalance. Those infants who survive need close monitoring for the development of obstructive uropathy, failure to thrive, protein-losing enteropathy, respiratory compromise, and increased susceptibility to invasive infections. Once a clinical diagnosis is made, mutational analysis can confirm it and facilitate genetic counseling, as recurrence risks are 25% for this autosomal recessive condition. Mutational analysis enables direct genetic testing and accurate prenatal diagnosis. As more patients are studied, genotype/phenotype correlations may be possible.
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PMID:Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: a report of two case reports with molecular correlation and clinical management. 1099 May 77

A 15-day-old Yemeni boy presented with anonychia and granulomatous nail beds and white patches in the mouth. Biopsy specimens from the nail beds were nondiagnostic. Shortly thereafter the child developed multiple tense bullae, a hoarse voice, and poor appetite. Hematoxylin and eosin staining along with monoclonal antibody studies of a skin biopsy specimen revealed subepidermal bullae through the lamina lucida and a marked decrease in laminin 5. A diagnosis of junctional epidermolysis bullosa Herlitz variant was made. His course was complicated by multiple nonhealing wounds, oral pharyngeal involvement, sepsis, anemia, and poor nutrition, leading to his eventual death. This report emphasizes the unusual presentation of Herlitz junctional epidermolysis bullosa with anonychia as the initial finding and a relatively prolonged period before cutaneous blister formation, resulting in delay of diagnosis.
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PMID:Herlitz junctional epidermolysis bullosa presenting at birth with anonychia: a case report and review of H-JEB. 1143 2

Epidermolysis bullosa dystropicans of the Hallopeau-Siemens type (HS-EBD) is an autosomal-recessive blistering disease. Skin fragility due to mutations in structural proteins is responsible for further development of chronic and painful wounds, skin infections and sepsis. There is no causative treatment available. We present a case report with HS-EBD and longstanding painful wounds treated with autologous keratinocytes on an esterified hyaluronic acid membrane. Two out of three wounds treated showed a complete take of the graft. They improved markedly with a stable result over 12 months until now. Even autologous keratinocyte grafting may have a beneficial effect on chronic wounds in HS-EBD despite the fact that the genetic defects are unchanged.
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PMID:Recessive epidermolysis bullosa dystrophicans (Hallopeau-Siemens)--improvement of wound healing by autologous epidermal grafts on an esterified hyaluronic acid membrane. 1144 73

We report a woman with recessive dystrophic epidermolysis bullosa (RDEB) in whom there was prolonged sepsis and death at age 22 years. Autopsy revealed multiple epidermolytic skin lesions with chronic ulceration, mesangioproliferative glomerulonephritis and multifocal necrotizing leucoencephalopathy (MNL) of the pons. The latter two conditions may have been mediated by sepsis-associated cytokines. Although mesangioproliferative glomerulonephritis has previously been described in association with RDEB, to our knowledge this is the first report of MNL in a patient with RDEB.
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PMID:Recessive dystrophic epidermolysis bullosa associated with mesangioproliferative glomerulonephritis and multifocal necrotizing leucoencephalopathy of the pons. 1560 25

Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare autosomal recessive genetic disease with a poor prognosis. We report a case of EB-PA in a non-consanguineous couple with a non-contributory family history. The primigravid woman was referred to us because of polyhydramnios associated with fetal gastric dilatation at 33 weeks of gestation. Maternal serum alpha-fetoprotein (AFP) had been elevated at 15 weeks' gestation (3.08 multiples of the median), and ultrasound examination showed polyhydramnios with echogenic amniotic fluid, gastric dilatation, and no other associated malformation. The fetal karyotype was normal female (46,XX). Acetylcholinesterase (ACHe) and AFP levels in the amniotic fluid were normal. Labor occurred spontaneously at 35 weeks' gestation. Clinical examination of the newborn showed large areas of cutaneous blisters and erosions, as well as pyloric atresia. Immunofluorescence analysis of skin samples confirmed EB-PA. Molecular analysis showed a new mutation of the integrin beta-4 gene: heterozygote missense deletions (3807delC/310delC, respectively, exons 31 and 5). The child died from severe sepsis at the age of 13 days. Our observation emphasizes the difficulty of interpreting prenatal ultrasound findings when there is no suggestive context.
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PMID:Prenatal findings in epidermolysis bullosa with pyloric atresia in a family not known to be at risk. 1591 78

Congenital pyloric atresia (CPA) is a very rare condition that was first described by Calder in 1749. Commonly, CPA occurs as an isolated lesion, which has an excellent prognosis, but it can also be seen in association with other malformations, which can have a negative impact on the final outcome. The medical records of all patients with the diagnosis of CPA treated at our hospital were retrospectively reviewed for: age at diagnosis, sex, presenting symptoms, history of polyhydramnios, diagnosis, associated anomalies, operative findings, treatment and outcome. Eleven cases with the diagnosis of CPA were treated at our hospital. There were five males and six females. Seven were products of full term normal vaginal delivery and the remaining four were prematures. Their birth weights ranged from 1.2 to 3.9 kg (mean 2.2 kg). Polyhydramnios was seen in seven (63.6%). Associated anomalies were seen in six (54.5%). These included epidermolysis bullosa (EB) in three, hereditary multiple intestinal atresias (HMIA) in two including a duplication cyst in one of them, esophageal atresia in one, Down's syndrome in one, congenital heart disease in one, cleft palate in one and aplasia cutis congenital (ACC) in one. Intraoperatively, five had pyloric diaphragms, in two of them there were double diaphragms, three had pyloric atresia with a gap between the two ends and two had pyloric atresia with no gap. One of them had duodenal perforation as well as ileal perforation. The patients with pyloric diaphragms had excision of diaphragms and Heineke-Mickulicz pyloroplasty. Four of the other five patients had gastro-duodenostomy. One of them also had duodeno-jejunostomy due to associated distal duodenal atresia and excision of duplication cyst. The patient with duodenal and ileal perforation and because of the marked distension of the duodenum had reduction duodenoplasty, gastroduodenostomy, and duodeno-jejunostomy. The area of ileal perforation was resected and end-to-end anastomosis was done after correction of the associated malrotation. One patient with associated esophageal atresia had gastrostomy and gastrojejunostomy. Post-operatively, all did well initially, but subsequently, six of them died giving an overall survival of 45.5%. Sepsis was the cause of death in all of them. CPA is very rare and when it occurs in isolation it has a good prognosis. The association of CPA with HMIA is universally fatal. CPA in association with EB has a high mortality but there are encouraging results with the use of steroids and phenytoin. Sepsis continues to be the main cause of death and an associated combined immunodeficiency should be excluded.
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PMID:Congenital pyloric atresia and associated anomalies. 1739 Jan 40

Epidermolysis bullosa (EB), a hereditary blistering condition of the skin, is divided into simplex, hemidesmosomal, junctional, and dystrophic types. It may be complicated by the development of squamous cell carcinoma of the skin, but other neoplasms, especially those separate from involved skin, are distinctly rare. We report a male infant with junctional EB who died of Pseudomonas sepsis and was found at autopsy to have a clinically unrecognized cerebellar malignant rhabdoid tumor (MRT). This is the first reported case of an infant with EB and a coincident extracutaneous neoplasm. It is also the first known case of EB associated with a pathologically confirmed malignant brain tumor. Cytogenetic results from the infant and his tumor and both of his parents suggest the infant's EB and MRT were not genetically linked.
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PMID:Congenital cerebellar malignant rhabdoid tumor in an infant with junctional epidermolysis bullosa. 1800 Nov 59

We present 5 cases of pyloric atresia associated with junctional epidermolysis bullosa, from 2003 to 2005. Patients underwent laparatomy after stabilization. Four neonates had gastroduodenostomy, and the other had excision of membrane and pyloroplasty. Four survived and one died from fulminant septicemia. Although the association of pyloric atresia with epidermolysis bullosa has been reported to be fatal, our study showed good survival rate.
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PMID:Pyloric atresia associated with epidermolysis bullosa. 1894 57

The conventional treatment for the autoimmune bullous skin diseases is broad-spectrum immunosuppressive regimen typically combining systemic corticosteroids with adjuvant immunosuppressive therapeutic agents. Orphan diseases in the pemphigus, pemphigoid, and epidermolysis bullosa acquisita groups of clinical disorders are often clinically severe, requiring long-term treatment with such drugs or drug combinations. Rituximab, a chimeric recombinant monoclonal antibody targeting CD20(+) B cells, has recently been suggested to be effective in the treatment of pemphigus with relatively few adverse effects. The clinical value of rituximab in other immune-mediated blistering diseases has been less thoroughly examined. We report a case of a woman who presented initially with the Brunsting-Perry phenotype of cicatricial pemphigoid who subsequently developed severe generalized subepidermal blisters healing with scarring and milia formation thought to be clinically compatible with epidermolysis bullosa acquisita, although type VII collagen autoantibodies were never identified. Treatment with a number of conventional systemic agents was unsuccessful and complicated by methicillin-resistant Staphylococcus aureus-induced cutaneous ulcers and near-fatal gram-negative sepsis. This woman has enjoyed an 18-month complete clinical remission after a single inductive 4-week cycle of intravenous rituximab. This outcome supports the idea that systemic memory B-cell depletion with drugs such as rituximab should be considered for therapeutically refractory subepidermal autoimmune blistering diseases in addition to intraepidermal autoimmune blistering diseases. A potential role for the immunologic phenomenon of epitope spreading in the generation of overlapping features of autoimmune blistering diseases, and its contribution to therapeutic refractoriness ("hardening"), is discussed.
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PMID:Sustained clinical response to rituximab in a case of life-threatening overlap subepidermal autoimmune blistering disease. 2049 77


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