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)

A Turkish family with four children is described, two boys suffering from Cockayne's syndrome and a girl from recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens). The outstanding features in the brothers are a pronounced delay in growth which began in both children at the age of about 1.5 years, progeria-like facial features, and a high degree of light sensitivity noticed very soon after birth. The daughter died of septicemia at the age of 4 years. Both diseases are rare and probably the consequence of extremely high consanguinity.
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PMID:[Cockayne syndrome and epidermolysis bullosa dystrophica (Hallopeau-Siemens). Simultaneous occurrence in a family]. 717 21

Congenital epidermolysis bullosa is an inherited disorder characterized by an anomaly of joint structures between epidermis and dermis. This anomaly involves different malpighian epithelium and particularly in the digestive chorioepithelial junction. Digestive and oropharyngeal manifestations include bullae, erosions and ulcerations that heal by fibrosis, leading to retraction and stenosis. We report two cases of esophageal stenosis, the first one in a young patient with a congenital epidermolysis bullosa of Hallopeau-Siemens and the second one, in a young woman with a Pasini variant. In the first case, the esophageal stenosis was treated by careful dilation. In the second case, the endoscopy induced hemorragic bullae and septicemia, which were treated with antibiotics and total parenteral nutrition.
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PMID:[Digestive involvement in dystrophic bullous epidermolysis. Presentation of 2 cases and review of the literature]. 911 72

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

Generalized pustular psoriasis (GPP) is a subtype of pustular psoriasis characterized by painful and occasionally disfiguring cutaneous manifestations with sepsis-like systemic symptoms. Affecting any age and race, GPP can occur with other forms of psoriasis or by itself. Stimuli for flares include medications, infections and environmental triggers. The interleukin family and caspase recruitment domain family have been implicated in its pathogenesis. Other forms of pustular psoriasis include impetigo herpetiformis, palmoplantar pustular psoriasis, annular pustular psoriasis and acrodermatitis continua of Hallopeau. Treatment is not well established, but includes the use of retinoids, methotrexate, cyclosporine, corticosteroids, TNF-alpha inhibitors, topical therapy and phototherapy. The use of TNF-alpha inhibitors may result in the formation of antidrug antibodies and should be administered with methotrexate.
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PMID:Generalized pustular psoriasis: a review and update on treatment. 2957 91