0000000000293800
AUTHOR
Martin Böckers
Hereditary angioneurotic oedema and blood-coagulation: interaction between C1-esterase-inhibitor and the activation factors of the proteolytic enzyme systems.
C-1-inactivator (C-1-INA) does not only exert its important inhibitory functions in the complement system but also in the first step in the activation of the coagulation, fibrinolytic and kallikrein system. We therefore determined in nine patients with hereditary angioneurotic oedema (HANE) with obvious quantitative or functional defects of C-1-INA, and one further patient with Quincke-type oedema of different origin, the coagulation factors of the initial phase such as Hageman factor, plasma thromboplastin antecedent (PTA) and high molecular weight kininogen (HMWK). These factors were further correlated with the concentration as well as functional activity of C-1-INA. Nine of ten patients …
Interaction between C1-INA, coagulation, fibrinolysis and kinin system in hereditary angioneurotic edema (HANE) and urticaria.
The C1-inactivator plays an important role not only in the initial phases of the complement system, but also in those of the coagulation, fibrinolysis and kinin systems. The present study was concerned with the reciprocal influence of decreased C1-inactivator levels in patients with hereditary angioneurotic edema (HANE, HAE). In 13 HANE-I patients there were significantly increased levels of the coagulation factors XII, XI, V, of plasminogen and of alpha 2-antiplasmin, while the factors IX and VII were decreased. Conversely, it emerged that in patients with markedly raised prephase factor levels, angioneurotic edema occurred in the presence of normal or only slightly decreased C1-inactivato…
Pathogenesis of Paraneoplastic Follicular Hyperkeratotic Spicules in Multiple Myeloma
• We describe a 62-year-old man with multiple myeloma who developed horny spicules on his face, particularly on his nose. IgG-λ monoclonal gammopathy was detected, and the serum dysprotein was shown to be a cryoglobulin, which forms a cryogel at low temperatures. Light and electron microscopic and immunohistochemical examinations showed an intercellular precipitation and massive accumulation of the IgG dysprotein and cryoglobulin between the keratinocytes of the upper epidermis and the infundibular epithelium. The follicles were dilated and filled with parakeratotic cells, the protein deposits between them and a rudimentary hair thus resulting in the clinically visible symptoms of horny spi…
Persistent skin ulcers, mutilations, and acro-osteolysis in hereditary sensory and autonomic neuropathy with phospholipid excretion
We observed three children in a Turkish family who from early childhood had deformations of the feet and torpid ulcers with subfocal osteomyelitis and osteolysis, which subsequently led to amputations. The fingers showed ainhumlike constriction bands and spontaneous amputations. Neurologic studies revealed an almost complete sensory and autonomic loss affecting all modalities and a marked involvement of motor fibers. The clinical symptoms fulfill many of the hallmarks of hereditary sensory and autonomic neuropathy type II, including autosomal recessive inheritance, onset of symptoms in childhood, and mutilating acropathy. A high urinary excretion of sphingomyelin and lecithin suggests that …