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 full-term infant with junctional epidermolysis bullosa (JEB) is described. The distribution and morphologic characteristics of generalized blistering in areas of pressure in conjunction with perioral and perinasal granulation tissue suggested the diagnosis of generalized gravis (Herlitz) JEB. The family history was consistent with autosomal recessive inheritance. Electron microscopy demonstrated a subepidermal cleft arising in the lamina lucida with hemidesmosomal hypoplasia, findings consistent with gravis JEB. Immunofluorescent antigenic mapping localized laminin and type IV collagen exclusively to the blister base and weak reactivity of bullous pemphigold antigen to both the roof and the base. Type VII collagen (LH 7:2 epitope) was detected solely at the base of the cleavage plane, and abnormal staining of laminin 5 (kalinin, GB3, nicein) and 19-DEJ-1 antigen was observed. The patient died of sepsis at age 3 months. DNA extracted from cultured keratinocytes for molecular genetic analysis demonstrated a mutation with the LAMB3 gene encoding the beta 3 chain of laminin 5. We present the clinical and laboratory findings and briefly review recent advances in the diagnosis and management of JEB.
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PMID:Generalized gravis junctional epidermolysis bullosa: case report, laboratory evaluation, and review of recent advances. 879 Feb 63

The case of a male neonate of 41 weeks' gestation who developed blistering of the skin immediately after birth is described. His parents were consanguineous Tunisians. Electron microscopy of a cutaneous biopsy showed skin cleavage within the lamina lucida and immunoepitope mapping revealed a complete absence of laminin 332 expression. These findings referred to the diagnosis of junctional epidermolysis bullosa (JEB) Herlitz type. The neonate died at 3 months of age due to sepsis. Molecular analysis of laminin 332 chain genes LAMA3, LAMB3 and LAMC2 disclosed a novel homozygous nonsense mutation in LAMA3 (p.Y955X). Clinical and laboratory analyses are essential for the diagnosis of JEB subtypes, and molecular analysis screening is crucial to manage a new pregnancy in families with suspected cases of JEB.
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PMID:A novel LAMA3 mutation in a newborn with junctional epidermolysis bullosa herlitz type. 2088 34