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  • 1
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Focal dermal hypoplasia (FDH) is an X-linked dominant multisystem birth defect affecting tissues of ectodermal and mesodermal origin. Using a stepwise approach of (i) genetic mapping of FDH, (ii) high-resolution comparative genome hybridization to seek deletions in candidate chromosome areas and ...
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant skin disorder that resembles epidermolytic hyperkeratosis (EHK). We have indentified mutations in two families originally diagnosed with EHK and in four families diagnosed with IBS at the same codon in the highly conserved carboxy ...
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Archives of dermatological research 269 (1980), S. 81-85 
    ISSN: 1432-069X
    Keywords: Xeroderma pigmentosum ; Heterogeneity ; Xeroderma pigmentosum variant ; Excision repair deficiency ; Nucleoid sedimentation ; Xeroderma pigmentosum ; Heterogeneität ; Xeroderma pigmentosum-Variante ; Excisions-Reparaturdefizienz ; Nukleoid-Sedimentationstechnik
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Zwei Patienten mit Xeroderma pigmentosum wurden cytogenetisch und auf molekularer Ebene untersucht. Eine Beeinträchtigung der DNA-Reparatur wurde beim ersten Patienten durch eine Nukleoid-Sedimentationstechnik nachgewiesen, während der zweite Patient gegenüber den gesunden Kontrollpersonen nur auf die Hälfte verminderte DNA-Reparaturdefizienz aufweist. Wir nehmen an, daß es sich bei diesem Patienten um einen weiteren Fall einer Xeroderma pigmentosum-Variante handelt.
    Notes: Summary Two cases of xeroderma pigmentosum were studied at the cytogenetic and molecular level. DNA repair impairment was revealed in case 1 by a nucleoid sedimentation technique whereas a half diminished rate of DNA repair could be demonstrated in case 2. This may be a further case of a xeroderma pigmentosum variant.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 143 (1985), S. 166-169 
    ISSN: 1432-1076
    Keywords: Keratinization defects ; Congenital ichthyosis ; Etretinate treatment ; Side-effects ; Therapy guidelines
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Keratinization defects can be very severe and disfiguring diseases. The development of retinoids such as etretinate has provided us with an effective symptomatic form of oral therapy for these skin conditions. Based on our own experience, we briefly outline the therapeutic potential of etretinate in various keratinization defects (lamellar ichthyosis, Netherton syndrome, Sjögren-Larsson syndrome, mal de Meleda and juvenile pityriasis rubra pilaris). The toxicology of etretinate is reviewed with special regard to the treatment of children. Bone changes such as premature closure of the growth line or other unacceptable side-effects have so far not been observed. Guidelines for patient selection and for the safe treatment of children are given.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Autosomal recessive lamellar ichthyosis is a clinically heterogeneous group of severe congenital keratinization disorders that is characterized by generalized hyperkeratosis and variable erythema. About half of the patients have mutations in the TGM1 gene, which encodes the keratinocyte transglutaminase. Linkage studies have shown that at least two further loci for autosomal recessive lamellar ichthyosis must exist. We present here two patients with lamellar ichthyosis caused by mutations in the TGM1 gene. The first patient is compound heterozygous for the novel missense mutation C53S and the splice mutation A3447G. The second patient, a child of consanguineous parents from Tunisia, is homozygous for the unknown nonsense mutation W263X. This is the first report of a mutation, C53S, that affects the region of the keratinocyte transglutaminase that is essential for anchorage of the enzyme to the plasma membrane. A novel, rapid in situ transglutaminase activity assay revealed the absence of keratinocyte transglutaminase activity in both patients. The mutations described are hence causative for the ichthyosis phenotype.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Der Hautarzt 46 (1995), S. 836-840 
    ISSN: 1432-1173
    Keywords: Schlüsselwörter Erworbener Ichthyosis-ähnlicher Hautzustand ; Ichthyosis acquisita ; Klinisches Spektrum ; Diagnostisches Vorgehen ; Key words Acquired ichthyosis-like condition ; Acquired ichthyosis ; Clinical spectrum ; Diagnostic procedures
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary We report on four patients with acquired ichthyosis-like skin lesions seen in our out-patients' clinic in the last 6 years. Emphasis is placed on the case of a 25-year-old patient who suffered from mycosis fungoides with the clinical features of an acquired ichthyosis-like condition. Three further observations illustrate the broad clinical spectrum of acquired ichthyosis-like dermatoses. In these patients renal insufficiency, HIV infection or an extreme diet were the cause of the skin lesions. Our observations emphasise that an acquired ichthyosis-like condition should be regarded as a challenge to make a definite diagnosis. Guidelines for a step-by-step diagnostic procedure are proposed.
    Notes: Zusammenfassung Wir berichten über vier Patienten, die sich wegen erworbener Ichthyosis-ähnlicher Hautveränderungen in den vergangenen sechs Jahren bei uns ambulant vorstellten. Exemplarisch für das diagnostische Vorgehen wird der Fall eines 25jährigen Patienten mit Mycosis fungoides, die sich klinisch nur unter dem Bild eines Ichthyosis-ähnlichen Hautzustandes – ohne Mycosis fungoides typische Läsionen – manifestierte, ausführlich dargestellt. Die drei weiteren Fallbeschreibungen illustrieren die Vielfältigkeit des klinischen Bildes des erworbenen Ichthyosis-ähnlichen Hautzustandes. Bei diesen Patienten liegt den Hautveränderungen eine Niereninsuffizienz, eine HIV-Infektion oder eine extrem einseitige Diät als Ursache zugrunde. Unsere Beobachtungen unterstreichen, daß der erworbene Ichthyosis-ähnliche Hautzustand kein einheitliches Krankheitsbild darstellt. Deshalb sollte die Diagnose „Ichthyosis acquisita“ besser vermieden werden. Das Vorliegen eines Ichthyosis-ähnlichen Hautzustandes sollte vielmehr als Herausforderung zu einer diagnostischen Abklärung begriffen werden. Dafür werden Hinweise gegeben.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Der Hautarzt 48 (1997), S. 568-571 
    ISSN: 1432-1173
    Keywords: Schlüsselwörter Grüne Haare ; Exogene Haarverfärbung ; Kupfer ; Swimmingpool ; Key words Green hair ; Exogen hair discoloration ; Copper ; Swimmingpool
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Three patients presented with an acquired green discoloration of their scalp hair. History revealed that all of them swam regularly in private swimming pools. Examination of the hair by atomic emission spectroscopy showed that the green discoloration was caused by an excessively high copper content of the hair. This exogeneous discoloration is characteristically related to the uptake of copper from private swimming pools.
    Notes: Zusammenfassung Wir berichten über 3 Patienten mit einer erworbenen Grünverfärbung der Kopfbehaarung. Die Anamnese ergab, daß alle 3 Patienten regelmäßig im privaten Swimmingpool badeten. Die Untersuchung der Haare mittels Atomemissionsspektroskopie wies einen exzessiv hohen Kupfergehalt als Ursache der Grünverfärbung nach. An Hand unserer Beobachtungen möchten wir auf die charakteristische Verknüpfung dieser exogenen Haarverfärbung mit der Aufnahme von Kupfer durch Schwimmwasser hauseigener Schwimmbecken hinweisen.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Archives of dermatological research 275 (1983), S. 63-65 
    ISSN: 1432-069X
    Keywords: X-linked recessive ichthyosis vulgaris ; Steroid sulfatase deficiency syndrome ; Lipoprotein electrophoresis ; Fast moving beta-lipoproteins
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-069X
    Keywords: Key words Transglutaminase ; Epidermis ; Lamellar ichthyosis ; Skin ; Histochemistry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Autosomal recessive congenital ichthyoses are disorders of epidermal cornification, but are clinically and etiologically heterogeneous. Some cases, known as lamellar ichthyosis, are caused by mutations in the TGM1 gene encoding transglutaminase 1, which result in markedly diminished or lost enzyme activity and/or protein. In some cases, this enzyme is present but there is little detectable activity, and in other clinically similar cases, transglutaminase 1 levels appear to be normal. Since conventional enzyme assays and mutational analyses are tedious, we developed a novel assay for the rapid screening of transglutaminase 1 activity using covalent incorporation of biotinylated substrate peptides into skin cryostat sections. Coupled with immunohistochemical assays using transglutaminase 1 antibodies, our method allows rapid identification of those cases caused by alterations in this enzyme.
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