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E Geiger

Publications and source records attributed to E Geiger.

22 records · Page 2Linked to original sources
PubMedDate not supplied

[Severe hereditary protein C deficiency in a newborn infant with fulminant purpura--successful treatment with phenprocoumon].

A newborn baby was born with scrotal hematoma and a diagnosis of testicular torsion was made. This diagnosis proved false, when the hematoma was resorbed after a few days and other hematomas developed instead (abdomen, elbow, foot, scalp). A total of nine hemorrhagic episodes were observed, most of them occurring on the scalp. All lesions were sharply delineated, started with red to purple discoloration and then turned to bluish-black indicating gangrene. Histology revealed extensive bleeding into the corium, fibrin thrombi within the capillaries, and complement and IgG in the small arterial walls. Each bleeding was associated with hypofibrinogenemia and thrombocytopenia. A diagnosis of hereditary protein C deficiency was made. Blood levels were consistent with heterozygosity of both the parents and homozygosity of the child. Bleedings were controlled by Cohn fraction I and heparin. It was impossible, however, to prevent further hemorrhage by continuous i.v. heparin. In addition aprotinin, epsilon-aminocaproic acid, AT III, and prednisone were ineffective. Continuous remission finally could be sustained with oral phenprocoumon.

4-Hydroxycoumarins↗
PubMedDate not supplied

Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils.

Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with congenital ichthyotic erythroderma due to an acylglycerol recycling defect. Demonstration of lipid vacuoles in neutrophils from peripheral blood smears (Jordans' anomaly) in patients with ichthyotic erythroderma leads to the diagnosis. In spite of frequent liver, muscle, ear, eye and central nervous system involvement, Dorfman-Chanarin syndrome may present clinically as monosymptomatic ichthyosis. Here, we report clinical and laboratory investigations in a consanguineous family from Turkey with 3 affected family members, and demonstrate the lipid vacuoles in epidermal Langerhans' cells for the first time. Langerhans' cell phenotyping suggests that the skin inflammation is due to the gene defect and not to underlying atopic dermatitis. Microscopic examination of eosinophils for lipid vacuoles to identify conductors revealed variable percentages of normal and vacuolized eosinophils in conductors, suggesting the microscopic analysis of at least 10 eosinophils for conductor identification.

Adolescent↗