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  • 1
    Electronic Resource
    Electronic Resource
    An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis (1999)
    Oxford, UK : Blackwell Publishing Ltd
    Experimental dermatology 8 (1999), S. 0 
    Details
    ISSN: 1600-0625
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: Epidermolytic hyperkeratosis (EHK) is a congenital, autosomal dominant disorder of cornification characterized by hyperkeratosis and blister formation. The clinical manifestations are heterogeneous, with respect to the extent of body surface involvement, palmar and plantar hyperkeratosis and the presence of erythroderma. Point mutations in the genes encoding the suprabasal-specific keratins, keratins 1 and 10 have been identified in EHK patients. The inappropriate amino acid substitutions cause a collapse of the keratin filament network, resulting in cytolysis of the involved keratinocytes. We report a severe case of EHK with a single base pair mutation that causes a threonine for asparagine substitution in residue 8 (N8T) of the 1A region of the keratin 1 protein. This is the region involved in molecular overlaps between neighboring keratin heterodimers. These findings suggest that even conservative amino acid substitutions in overlap regions can cause tonofilament clumping.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1600-0625.1999.tb00359.x
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  • 2
    Electronic Resource
    Electronic Resource
    Muckle–Wells syndrome: clinical and histological skin findings compatible with cold air urticaria in a large kindred (2004)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 151 (2004), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Muckle–Wells syndrome is a rare familial disease with autosomal dominant inheritance, characterized by cold sensitivity and polyarthralgias since childhood, with possible later development of nerve deafness and renal amyloidosis. The nature of the skin manifestations is, however, not well characterized.Objectives  To clarify the nature of cutaneous cold sensitivity in patients with Muckle–Wells syndrome by studying clinical aspects and histological features.Methods  Eighteen members of a family with Muckle–Wells syndrome and the recently identified mutation of the CIAS1 gene at locus 260 of chromosome 1q44 were available for study. Examination included a thorough history, physical examination and a battery of laboratory tests. In two brothers, standard cold contact and cold air provocation tests were performed, as were biopsies from normal and lesional skin.Results  All affected family members reported an increased sensitivity to cold, dampness or changes in temperature, and most had arthritis and conjunctivitis. Eight had developed hearing loss, four renal involvement, and amyloid deposits were found in three of five patients in whom rectal biopsies were performed. Laboratory tests showed leucocytosis and elevated C-reactive protein, but no serum cold agglutinins and cryoglobulins. Skin eruptions, with weals of 0·2–3 cm, lasted from 5 to 24 h and were associated with local itching or pain as well as fever, malaise and chills. On cold provocation of two patients, lesions could be reproduced by cold air, but not by contact with an ice cube or cold water. On histology, there was increased vasodilatation, marked infiltration with neutrophils and monocytes/macrophages, and increased expression of β2 integrins in lesional vs. normal skin. Numbers of mast cells as well as expression of interleukin-3 and tumour necrosis factor-α were unchanged.Conclusions  Cold-induced skin lesions in Muckle–Wells syndrome represent typical generalized cold air/wind inflammatory reactions, as also observed in familial cold urticaria. Microscopic features are similar to those observed in other types of urticaria.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.2004.06001.x
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  • 3
    Electronic Resource
    Electronic Resource
    HID and KID syndromes are associated with the same connexin 26 mutation (2002)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 146 (2002), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Background Keratitis–ichthyosis–deafness (KID) syndrome is a debilitating ectodermal dysplasia that predisposes patients to develop squamous cell carcinomas in addition to leading to profound sensory deafness and erythrokeratoderma. We recently demonstrated that KID can be caused by a specific missense mutation in connexin 26 (GJB2). Another syndrome, called hystrix-like ichthyosis–deafnesss (HID) syndrome, strongly resembles the KID syndrome. These disorders are distinguished mainly on the basis of electron microscopic findings. We hypothesized that KID and HID syndromes may be genetically related. Objective To demonstrate by mutation analysis that HID and KID syndromes are genetically indistinguishable. Methods DNA was extracted from paraffin-embedded tissue samples of the first HID syndrome patient described in the literature. Since the KID syndrome mutation abolishes an AspI restriction site, we were able to screen the patient's DNA by polymerase chain reaction and subsequent restriction enzyme analysis. Results Restriction analysis of the connexin 26 gene in HID syndrome demonstrated the presence of the KID syndrome mutation that we previously described. This result was confirmed by direct DNA sequencing. Conclusions We show that KID and HID syndromes are identical at the molecular level and confirm the clinical impression that these syndromes are one and the same. That previous clinical reports made a distinction may be a consequence of sampling artefacts; alternatively, genetic background effects such as the presence of concurrent mutations in other skin-expressed genes may modify the phenotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2133.2002.04893.x
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  • 4
    Electronic Resource
    Electronic Resource
    A family study of atopic dermatitis (1990)
    Springer
    Archives of dermatological research 282 (1990), S. 98-102 
    Details
    ISSN: 1432-069X
    Keywords: Atopic dermatitis ; Family study ; Genetic recurrence risk ; Genetic counselling
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The history of 188 Caucasian patients with atopic dermatitis (AD) and of 2,151 family members has been analyzed. Of the AD patients 48% suffered from respiratory atopy (36% rhinitis, 28% asthma, and 15% both). AD showed by far the earliest onset of all atopic diseases: 50% of our patients had skin lesions before the age of 2 years and 60% before the age of 5 years. In contrast, symptoms of allergic asthma developed in 40% of AD patients before the age of 5 years in comparison with only 25% who had allergic rhinitis. AD affects females more frequently than males (male to female ratio 1∶1.5), regardless of whether additional respiratory atopies are present or not. In contrast, respiratory atopies develop more frequently in males than in females (male to female ratio 1.5∶1). Mothers with respiratory atopy more often have atopic children (26%) than do fathers with respiratory atopy (13%). Finally, risk figures for genetic counselling are given. In short, the general risk of developing AD (3%) and atopy (7%) increases by a factor of two with each first-degree family member already suffering from atopy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00493466
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  • 5
    Electronic Resource
    Electronic Resource
    Cytogenetic effects during extracorporeal photopheresis treatment of two patients with cutaneous T-cell lymphoma (1991)
    Springer
    Archives of dermatological research 283 (1991), S. 81-85 
    Details
    ISSN: 1432-069X
    Keywords: Cutaneous T-cell lymphoma ; Cytogenetics ; Extracorporeal photopheresis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The effect of extracorporeal photopheresis (EP) on various cytogenetic parameters has been investigated. During EP the photoactivatable agent 8-methoxypsoralen (8-MOP) was administered orally. After 2 h a leukocyteenriched blood fraction was collected by haemocentrifugation, irradiated with UVA extracorporeally, and reinfused to the patient. Two patients suffering from cutaneous T-cell lymphoma showed a marked clinical improvement in response to therapy. In order to investigate the cytogenetic effects and mutagenic risks of EP, the mitotic index (MI), the type and number of chromosomal aberrations and the rate of sister chromatid exchanges (SCE) were studied. Following EP treatment the patients' lymphocytes were cultured and stimulated with phytohaemagglutinin (PHA) for 48 or 72 h. The cultured lymphocytes showed a decreased MI after 48 h as an indicator of cytotoxic effects, but not after 72 h. In lymphocyte cultures not stimulated with PHA, the MI was decreased even after 72 h. The number of chromosomal aberrations and SCE were increased upon treatment, but only transiently, returning to basal levels between consecutive treatments. Our data provides no evidence for increased mutagenic risk as a consequence of effective EP treatment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00371613
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  • 6
    Electronic Resource
    Electronic Resource
    Beitrag zur Kenntnis der Wärmeleitfähigkeit poröser Stoffe teil I (1970)
    Springer
    Heat and mass transfer 3 (1970), S. 156-168 
    Details
    ISSN: 1432-1181
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Description / Table of Contents: Abstract Two stationary methods for determining the thermal conductivity of porous insulating materials are described; both are based on the guarded hot plate apparatus (one with a single test specimen, the other with two equal specimens). The corrections of both apparatus are fully explained; they were experimentally confirmed. Further controlling measurements under wide variation of the measuring conditions show a good agreement between all results. The influence of thermal radiation is represented by the variation of heat conductivity with the thickness s of the specimens. Emissivity at the bounding metallic plates (heating and cooling plates) is without importance, ifs〉20 mm. — A table of special values for the heat conductivity of different materials is published. A second part of this investigation will report about absorption measurements in the infrared range. These dates, together with discussion of earlier work done in this field may help to find the physical background of heat transport in such materials.
    Notes: Zusammenfassung Zwei Meßeinrichtungen zur Ermittlung der Wärmeleitfähigkeit von sehr schlechten Leitern, insbesondere von porösen Schaumstoffen, beruhend auf dem stationären Plattenverfahren werden beschrieben (Zweiplattengerät, Einplattengerät). Die Korrektionen beider Meßeinrichtungen werden ausführlich angegeben und experimentell gesichert. Die Kontrolle beider Geräte unter weitgehender Variation der Versuchsbedingungen bestätigt die gute Übereinstimmung der Ergebnisse. Der Einfluß der Strahlung wird an der Abhängigkeit der Wärmeleitfähigkeit von der Dicke der Platten für Proben aus Polystyrolschaum, aus Polyvinylchloridschaum und aus Schaumglas deutlich gemacht. Der Einfluß des Emissionsgrades der metallischen Begrenzungsflächen ist für Schichtdickens 〉 20 mm vernachlässigbar. In einer abschließenden Tabelle werden für eine Reihe von Schaumstoffen verschiedener Herkunft und Rohdichte gemessene Werte der Wärmeleitfähigkeit bei 25 °C und 45 °C mitgeteilt. — Die hier beschriebenen Versuchsergebnisse werden in einem kürzeren nachfolgenden 2. Teil durch Messung der Ultrarotabsorption in Polystyrol ergänzt; sie werden anschließend mit den Ergebnissen anderer Beobachter verglichen und diskutiert.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01006691
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  • 7
    Electronic Resource
    Electronic Resource
    Pigmentary mosaicism in hypomelanosis of Ito (1998)
    Springer
    Human genetics 〈Berlin〉 103 (1998), S. 441-449 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We report on a female with mental and motor retardation, facial dysmorphism, abnormal pigmentation reminiscent to hypomelanosis of Ito (HI), and karyotypic mosaicism involving a small supernumerary marker chromosome. The marker chromosome was defined by fluorescence in situ hybridisation (FISH) as a ring X chromosome with breakpoints in the juxtacentromeric region. FISH analysis showed that the ring does not include the XIST locus at the X-inactivation centre and, therefore, may not be subject to X inactivation. X-inactivation studies with the HUMARA (human androgen receptor) and FMR1 assay showed a skewed X-inactivation pattern (85:15) with preferential inactivation of the paternal X chromosome. These results are discussed with respect to the role of functional disomy of Xp in the pathogenesis of HI.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050848
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  • 8
    Electronic Resource
    Electronic Resource
    Bilaterale segmentale Neurofibromatose unter dem Bild eines epidermalen Nävus (2000)
    Springer
    Der Hautarzt 51 (2000), S. 862-864 
    Details
    ISSN: 1432-1173
    Keywords: Schlüsselwörter Segmentale Neurofibromatose ; Epidermaler Nävus ; Keywords Segemtal neurofibromatosis ; Epidermal nevus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Abstract Neurofibromatosis is a neuroectodermal systemic disease. A rare variant of this condition is bilateral segmental neurofibromatosis. A 29-year-old man presented with bilateral papillomatous plaques in the lumbar dermatomes. Clinically, the lesions were very similar to an epidermal nevus but histologic examination revealed superficial neurofibromas. Family history, ophthalmologic and neurologic investigations were unremarkable. The unusual morphologic presentation of bilateral segmental neurofibromas in this case points to the wide clinical spectrum of the disease and the significance of histologic examination in systematic nevoid lesions.
    Notes: Zusammenfassung Die Neurofibromatose ist eine neuroektodermale Systemerkrankung, wobei insbesondere die bilaterale segmentale Form eine seltene Variante dieser Erkrankung darstellt. Wir berichten über einen 29-jährigen Mann, bei dem bilateral papulöse Plaques in den lumbalen Dermatomen beobachtet wurden. Die klinisch einem epidermalen Nävus gleichenden Hauterscheinungen entsprachen histologisch oberflächlichen Neurofibromen. Die Familienanamnese sowie die ophthalmologischen und neurologischen Untersuchungen waren unauffällig. Die in diesem Fallbeispiel vorgestellte ungewöhnliche Morphologie einer bilateralen segmentalen Neurofibromatose spricht für die enorme klinische Variabilität dieser Erkrankung und weist auf die Bedeutung histologischer Untersuchungen bei systematisierten nävoiden Hautveränderungen hin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001050051231
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  • 9
    Electronic Resource
    Electronic Resource
    Kartierung und molekulare Analyse erblicher Hautkrankheiten Stand der Forschung (2000)
    Springer
    Der Hautarzt 51 (2000), S. 906-914 
    Details
    ISSN: 1432-1173
    Keywords: Schlüsselwörter Klinische Genetik ; Genodermatosen ; Genkartierung ; Molekulare Analyse ; Keywords Clinical genetics ; Genodermatoses ; Gene mapping ; Molecular analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Abstract The revolutionary advances of molecular genetics have made it possible in recent years to map the genes and identify the gene products of numerous hereditary skin diseases. The number of newly recognized gene loci responsible for genodermatoses is increasing almost every week. In this review, the gene locations of approximately 200 genodermatoses, categorized into various nosological groups, are presented and their genes or gene products, if already known, are documented in a tabular form. In this way novel, etiologically oriented criteria of classification emerge. On the one hand, dissimilar phenotypes can be attributed to one single gene locus, and on the other hand some clinically uniform genodermatoses have to be assigned to a number of different gene loci. Moreover, this review shows for which phenotypes additional research is particularly needed because we know the gene loci but so far not the underlying genes or gene products.
    Notes: Zusammenfassung Die revolutionären Fortschritte der Molekulargenetik haben es möglich gemacht, dass in den letzten Jahren die Gene zahlreicher erblicher Hauterkrankungen lokalisiert und charakterisiert worden sind. Die Zahl neu entdeckter Loci für Genodermatosen erhöht sich derzeit nahezu jede Woche. In dieser Übersicht werden die wichtigsten molekulargenetischen Methoden dargestellt, die heute zur Kartierung und Analyse von genetisch bedingten Krankheiten angewendet werden. Für rund 200 Genodermatosen wird deren exakte Kartierung, nach Krankheitsgruppen geordnet, tabellarisch aufgeführt, und deren Gen oder Genprodukt wird, soweit bereits bekannt, angegeben. Dabei zeichnen sich neue, ätiologisch orientierte Klassifikationsmöglichkeiten ab, wobei wir einerseits klinisch ganz unterschiedliche Phänotypen auf einen einheitlichen Genlocus zurückführen können und anderseits klinisch einheitliche Genodermatosen mitunter verschiedenen Loci zuordnen müssen. Auch wird ersichtlich, bei welchen Phänotypen besonderer Forschungsbedarf besteht, da zwar die chromosomale Lage der Genloci, nicht aber die zugrunde liegenden Gene bekannt sind.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001050051238
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  • 10
    Electronic Resource
    Electronic Resource
    Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and consideration about variability and penetrance (1985)
    Springer
    Human genetics 〈Berlin〉 70 (1985), S. 136-147 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Six families with a total of 34 affected persons with the syndrome of tibial aplasia and ectrodactyly are reported. The spectrum of malformations is compared to that of 99 familial cases from the literature. The full-blown syndrome consists of bilateral aplasia of tibiae and split-hand/split-foot deformity. Additional malformations may be distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, hypoplastic big toes, postaxial and intermediate polydactyly in connection with split-hand deformity, and cup-shaped ears. The mildest visible manifestation may be hypoplastic big toes, the severest is tetramonodactyly or transverse hemimelia. This disorder is autosomal dominantly inherited. The penetrance is markedly reduced.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273072
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