Library

Notes: We report a 53-year-old woman who presented with multiple painful red cutaneous papules that had been growing slowly for 13 years. Histopathology showed typical features of neuroma. Biological, morphological and genetic investigations were negative and excluded the diagnosis of multiple endocrine neoplasia type 2b. After reviewing the literature, we concluded that our patient has an extremely unusual acquired disease, which must be considered as a distinct entity in the spectrum of cutaneous neurological disorders.

Notes: Background  Hereditary subtotal leuconychia is a rare nail disease. The gene(s) underlying this phenotype is (are) not known. Immunohistochemical and ultrastructural studies of nails are performed infrequently.Objectives  To perform genetic linkage analysis and to assess ultrastructure and soft/hard keratin expression in hereditary white nails.Methods  We have analysed microscopically and ultrastructurally the white nails of a patient from a family in which the trait is inherited in an autosomal dominant manner as an isolated symptom. No skin lesions or hair abnormalities could be detected. Genetic linkage studies were performed on DNA samples obtained from several members of the affected family. A longitudinal surgical biopsy of the nail from a great toe was split in two parts. One part was fixed in formalin and processed for histopathology. Another part was further subdivided and embedded either in Epon, following fixation in 2% glutaraldehyde, or in Lowicryl K4M, after fixation in 3% paraformaldehyde. Dewaxed nail sections and Lowicryl ultrathin sections were also stained with various antikeratin antibodies.Results  Genetic linkage studies of the family pointed to the disease gene mapping to the chromosomal 12q13 region. Genes mapping within this chromosomal region include the genes coding for type II (basic) cytokeratins and hard keratins. The nail matrix presented an abnormal hypergranulosis. The upper part of the nail plate, originating from the proximal nail matrix, had a nonhomogeneous lamellar appearance, with numerous intracellular ‘lipidic’ vacuoles and ‘empty’ spaces separating keratin filament bundles. These cells were progressively shed at the nail surface. The cell loss was compensated by hyperproliferation of the distal matrix and of the nail bed keratinocytes, with persistent marked parakeratosis and loose arrangement of keratin bundles. The distal matrix and the nail bed contributed equally to formation of the lower plate. This presented the characteristics of a tissue composed of soft keratins. Accordingly, there was virtually no labelling with the Hb1 antibody to a basic hard keratin in the white nail, whereas the labelling with AE3 antibody to all type II keratins and with KL1 recognizing suprabasal soft keratins was normal or even enhanced.Conclusions  Genetic linkage indicates that the gene defect underlying the leuconychia in the family studied resides on chromosome 12q13. As the type II keratins map within this chromosomal interval, it is possible that a mutation in one of these keratin genes may be a cause of the hereditary leuconychia. The white appearance of nails in this disease seems to be due to an abnormal keratinization of cells originating from the proximal nail matrix, leading to the presence of abundant intracellular vacuoles and to a lesser compactness of keratins.

Notes: Zusammenfassung Nach intravenöser Verabreichung einer mit J131-markierten Fettemulsion wird bei einem Patienten mit essentieller Hyperglyceridämie und bei einem weiteren mit experimenteller Hyperglyceridämie eine vom Normalverlauf wesentliche Abweichung der J131-Fettaktivität im Blut beschrieben. Neben einem höheren Ausgangswert tritt 30 bzw. 60 min nach der Fettinjektion ein Fettaktivitätsgipfel in Höhe von 10% der verabreichten Dosis auf, der mit einer Halbwertszeit von 45 bzw. 60 min schwindet. Dieser Gipfel dürfte am ehesten einer Lipoproteidproduktion der Leber entsprechen und für bestimmte Formen der Hyperglyceridämie pathognomonisch sein.

Notes: Zusammenfassung 1. Unter Verwendung des Radiobengalrottests wurde die Lebergesamtdurchblutung unter dem Einfluß von inaktiviertem Kallikrein, Nicotinsäure, Theophyllin, Heparin, Dehydrocholsäure, Hepsan (Cholin, Methionin) und Reducdyn (Cystein-, Homocysteinthiolakton) untersucht. 2. Die peripher durchblutungsfördernden Pharmaka senken für verschieden lange Zeit das Leberstromvolumen mäßig. Als Ursache hierfür wird eine Verschiebung innerhalb der zirkulierenden Blutmenge nach peripher angenommen. 3. Heparin in der verwendeten Dosierung vermindert die Leberdurchblutung kurzfristifg signifikant. 4. Dehydrocholsäure schränkt für etwa 40 min die Leberclearance um mehr als 50% ein. 5. Hepsan und Reducdyn beeinflussen die Leberdurchströmung nicht nachweisbar. 6. Die untersuchten Substanzen führen, abgesehen von Reducdyn, zu einer beschleunigten Farbstoffexkretion. Die Bedeutung einer Permeabilitätssteigerung für diese monotone Antwort der Leberzelle auf die verschiedenartigen pharmakologischen Einwirkungen wird besprochen.