Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Schnitzler syndrome is a rare condition characterized by chronic non-pruritic urticaria, recurrent fever, bone pain, osteocondensation, and monoclonal IgM gammopathy without features of lymphoproliferative disease. We describe the case of a 44-year-old man with an 8-year history of bone pain with hyperostosis and a 5-year history of chronic non-pruritic urticaria, associated with fever, hyperleukocytosis, hepatomegaly, serum monoclonal IgM-kappa. Systemic treatment with steroids was effective against bone pain but was ineffective in controlling the urticaria. We also review 35 cases. No adequate treatment has yet been found. The pathogenesis is unclear and the role of the IgM component in the induction of urticaria has not been established.
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PMID:Schnitzler's syndrome: report of a new case and a review of the literature. 909 81

We describe a sporadic case of lethal prenatal onset infantile cortical hyperostosis (Caffey disease), which resulted in early postnatal death at 30 weeks gestation. The mother presented with antepartum haemorrhage and preterm labour. She was found to have polyhydramnios. The infant showed extensive symmetrical diaphyseal subperiosteal cortical thickening throughout the skeleton with short extremities. Hepatomegaly and lung hypoplasia were present. Currently, in the absence of a specific marker, diagnostic ultrasound offers the only prospect of prenatal diagnosis. This diagnosis should be considered in infants with short angulated long bones, where the diaphyses are irregular and echodense, and where there is no sign of fractures.
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PMID:Lethal prenatal onset infantile cortical hyperostosis (Caffey disease). 1182 25

Infantile cortical hyperostosis, or Caffey's disease, usually presents with typical radiological features of soft tissue swelling and cortical thickening of the underlying bone. The disease can be fatal when it presents antenatally, especially before a gestational age of 35 weeks. This fatal, premature form of the disease is known to occur in various ethnic groups around the globe, and approximately 30 cases have been reported in English literature. This paper is unique in that it is the first paper to report a lethal form of prenatal-type infantile cortical hyperostosis diagnosed in South Korea. Born at gestational age of 27 weeks and 4 days, the patient had typical features of polyhydramnios, anasarca, hyperostosis of multiple bones, micrognathia, pulmonary hypoplasia, and hepatomegaly. The patient was hypotonic, and due to pulmonary hypoplasia and persistent pulmonary hypertension, had to be supported with high frequency ventilation throughout the entire hospital course. Due to the disease entity itself, as well as prolonged parenteral nutrition, liver failure progressed, and the patient expired on day 38 when uncontrolled septic shock was superimposed. The chromosome karyotype of the patient was normal, 46, XX, and COL1A1 gene mutation was not detected.
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PMID:A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis. 3101 12