[Deforming endonasal mass during pregnancy]. / Deformierende endonasale Raumforderung während der Schwangerschaft.

This article presents the case of a 33-year-old woman who consulted the authors' ENT clinic in the 39th week of pregnancy with recurrent epistaxis. A livid endonasal mass was found on the left side, subtotally displacing the nose and leading to deformation of the external nose. External biopsy provided no indications of malignancy. Postpartum CT of the paranasal sinuses revealed a mass destroying the cartilaginous nasal septum. Endoscopic resection of the finding was performed with preservation of the clinically sound nasal septal cartilage. Histopathological examination revealed a capillary hemangioma, which was classified as granuloma gravidarum due to its occurrence during pregnancy.

An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia.

Essential thrombocythaemia (ET) is a chronic myeloproliferative syndrome due to sustained proliferation of megakaryocytes, which results in elevated numbers of circulating platelets, thrombotic or haemorrhagic episodes and occasional leukaemic transformation. The cause of ET is unknown. Hereditary thrombocythaemia (HT) with autosomal-dominant transmission has been described with manifestations similar to those of sporadic ET. As the thrombopoietin gene (THPO) encodes a lineage-restricted growth factor with profound stimulatory effects on megakaryopoiesis and platelet production, we tested the hypothesis that HT results from a mutation in the human THPO gene. In a Dutch family with eleven affected individuals, the thrombopoietin protein (TPO) concentrations in serum were consistently elevated in individuals with HT. We derived an intragenic CA marker for the human THPO gene and performed linkage analysis in fourteen informative meioses in this family. This resulted in a lod score of 3.5 at theta=0. A G-->C transversion was found in the splice donor site of intron 3 of the THPO gene in all affected family members. This mutation leads to THPO mRNAs with shortened 5'-untranslated regions (UTR) that are more efficiently translated than the normal THPO transcripts. We conclude that a splice donor mutation in THPO leads to systemic overproduction of TPO and causes thrombocythaemia.

Familial essential thrombocythemia: clinical characteristics of 11 cases in one family.

Reports on familial occurrence of essential thrombocythemia (ET) are scanty. Many clinical and hematological aspects of familial ET have not been clarified yet. We studied 16 family members in four successive generations. By laboratory tests and bone marrow examination they were divided into a non-thrombocythemia group (n = 5) and into ET patients (n = 11). Five ET patients were asymptomatic, three patients had both vaso-occlusive and hemorrhagic symptoms, and three patients only vaso-occlusive symptoms. The platelet count ranged from 500 to 1700 x 10(9)/l. Symptoms correlated with age but not with platelet count. ADP-induced platelet aggregation distinguished best between patients and non-ET subjects. Four patients and four non-ET subjects had factor VIII:C or von Willebrand factor antigen abnormalities; all but one had blood group O. These abnormalities were not due to inherited von Willebrand's disease according to haplotype analysis. Two patients and three non-ET subjects had a bleeding diathesis. One of these two patients and all three non-ET subjects had a decreased factor VIII:C or vWF:Ag. No chromosome abnormalities were found. In conclusion, familial ET has a relatively benign course with clinical manifestations similar to nonfamilial cases, and it is probably transmitted by an autosomal dominant mode of inheritance.

[Polyarteritis nodosa with hepatitis and pancreatitis]. / Polyarteriitis nodosa met hepatitis en pancreatitis.

A 39-year-old man, known as a heavy drinker, presented with general malaise, abdominal pain, a history of icterus and progressive weight loss. He was found to have an acute hepatitis B infection and pancreatitis with pancreatic pseudocysts. A diagnosis of polyarteritis nodosa was made on clinical grounds, and confirmed pathologically. The patient was treated with high-dose corticosteroids, cyclophosphamide, antibiotics and drainage. However, the disease was progressive and the patient died. Pancreatitis in relation to polyarteritis nodosa, the association with hepatitis B infection, and new therapeutic possibilities are discussed.