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  • 1
    ISSN: 1432-069X
    Keywords: Alopecia areata ; Hair bulb epithelium ; MHC class II antigens
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 150 (1991), S. 627-629 
    ISSN: 1432-1076
    Keywords: Alopecia ; Contiguous gene syndrome ; Ichthyosis ; Photophobia ; X-linked recessive inheritance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe an 18-month-old male infant suffering from the ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome and further delineate the clinical phenotype. Severe retardation of growth and psychomotor development, chill-like seizures, bronchial asthma, urticaria, a proneness to skin infections and transient nail dystrophy observed in our patient are nonobligatory manifestations of this disorder. Histological examination of the atrichia revealed poorly developed, shortened hair follicles and a complete absence of sebaceous glands. The sex ratio of published cases suggests an X-linked recessive inheritance. The marked clinical variability of the IFAP syndrome might be the expression of a contiguous gene defect.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 117 (1987), S. 0 
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: We describe a 13-year-old girl with multiple pigmented nodules and plaques arranged in a cluster in the right lumbar region, which had developed since infancy.Eleven of 15 lesions which were examined histologically were found to be Spitz naevi. The remaining four lesions were compound naevocellular naevi, and two of them showed focal dysplasia. Eight Spitz naevi were investigated immunohistologically with monoclonal antibodies against HLA-antigens and malignancy-associated melanocytic antigens which are rarely present in common naevi. Naevus cells in all lesions expressed HLA-ABC antigens, but lacked HLA-DR antigens in seven of the eight lesions. All naevi were positive for ‘constitutive’ (KG-6-56) and ‘early’ (K-i-2) markers of nacvomelanocytic cells. In five of the eight Spitz naevi, at least one of the three malignancy-associated melanocytic antigens PAL-M1, A-1-43 and A-10-33 was found.The expression of malignancy-associated antigens in multiple agminate Spitz naevi is at variance with their benign clinical course.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 148 (2003), S. 0 
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Schwannomas are benign solitary tumours of the peripheral nerve sheaths. The occurrence of multiple schwannomas usually implies hereditary disease. The most frequent syndrome associated with multiple schwannomas is neurofibromatosis type 2 (NF2), which is defined by bilateral vestibular schwannomas. Schwannomatosis is a distinct disease characterized by multiple pathologically proven schwannomas in the absence of vestibular schwannomas. It is not currently known if the presence of multiple schwannomas confined to a limb may represent a mosaic form of NF2 or a distinct disease, because mutation analysis of these tumours is not routinely performed. We report a 31-year-old patient who presented with multiple slowly growing subcutaneous tumours on his left arm. His family history was negative for cutaneous tumours or central nervous system disease, and he did not have additional features of NF2. Magnetic resonance tomography and ophthalmological examination excluded vestibular schwannoma and eye stigmata of NF2. After resection of three tumours, histological analysis confirmed the diagnosis of benign schwannomas. Molecular genetic analysis by temperature gradient gel electrophoresis and microsatellite marker analysis demonstrated two distinct mutations of the NF2 gene (NF2) in two different schwannomas, with concomitant loss of heterozygosity in both tumours. In contrast, neither normal skin nor peripheral blood lymphocytes revealed mutations of NF2. The clinical and molecular genetic findings suggest that the diagnosis in our patient is schwannomatosis rather than segmental NF2 because the mutations found in different tumours were not identical. The possibility of a localized predisposition for the acquisition of NF2 mutations is discussed.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 143 (2000), S. 0 
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background Focal hyperhidrosis is a common condition mostly confined to the axillae, palms and soles. In some individuals, predominantly men, increased sweating of the forehead may be the major complaint and may interfere with the person’s quality of life. Botulinum toxin A has been shown to be a very effective treatment for focal hyperhidrosis of the axillae and palms. Objectives To assess the response in 10 men suffering from frontal hyperhidrosis treated with botulinum toxin A. Methods Botulinum toxin A Botox® was injected at multiple sites evenly distributed over the forehead (mean dose 86 mouse units) . Results The mean ± SEM amount of sweat was significantly reduced, 4 weeks after treatment, from 173·8 ± 38·6 mg min−1 to 53·7 ± 17·6 mg min−1. The effect lasted at least 5 months in nine of the 10 patients. All patients subjectively judged the treatment as very effective. Minor side-effects included painful injections and a transient weakness of forehead muscles without ptosis. Conclusions In this study, we provide evidence that botulinum toxin A is an effective and safe treatment for frontal hyperhidrosis.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 137 (1997), S. 0 
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary We report three cases of acute generalized exanthematous pustulosis (AGEP) following oral administration of nystatin. All cases showed similar clinical features and hislopathological findings, and a delnyed-type hypersensitivily to nystatin could be demonstrated in patch and prick testing. Drug eruptions to nystatin are extremely rare, and, to our knowledge, AGEP has not been reported previously.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 134 (1996), S. 0 
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: We report a 24-year-old woman, her 6-year-old son and her 1 7-month -old daughter, who all suffer from a rare congenital genodermatosis first delineated by Huriez et al. in the 1960s. The clinical features of this autosomal dominant condition include scleroatrophy of the hands and feel, nail hypoplasia, mild palmoplantar keratoderma and hypohidrosis. Histological changes are non-specific, but immunohistological and ultrastructural examination in our index patient revealed an almost complete absence of epidermal Langerhans cells in the affected skin. This new finding may be linked to the cancer proneness of the scleroatrophic skin. In this family, the grandmother had died at the age of 37 years from metastatic squamous cell carcinoma which had arisen on the thenar eminence.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Earth and Planetary Science Letters 90 (1988), S. 1-10 
    ISSN: 0012-821X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Geosciences , Physics
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 152 (2005), S. 0 
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Congenital hyponychia and anonychia are rare malformations which may form part of syndromes such as nail–patella syndrome, ectodermal dysplasias and brachydactylies, or may occur as an isolated finding. Congenital hyponychia and anonychia are frequently accompanied by underlying skeletal abnormalities. A 20-year-old woman showed congenital bilateral hypoplasia or aplasia of the second, third and fourth toenails with corresponding phalanx dysplasia or aplasia of the affected toes. Malformations of the hands or other congenital defects were absent. The findings in this patient do not exactly fit any known entities. Our clinical observation prompted us to review the literature on congenital hyponychia/anonychia and to summarize recent advances in understanding molecular events in nail development. In conclusion, the association of nail anomalies with aplasia and/or hypoplasia of corresponding middle and/or distal phalanges supports the hypothesis of bone-dependent nail formation.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 147 (2002), S. 0 
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Background  Botulinum toxin type A (BTX-A) has been shown to be a safe and effective treatment for primary focal hyperhidrosis. However, the effect of BTX-A therapy on quality of life (QOL) in patients with this condition has only recently begun to be studied in controlled clinical trials. Objectives  To assess the impact on QOL of BTX-A treatment in patients with bilateral primary axillary hyperhidrosis. Methods  A multicentre, randomized, double-blind, placebo-controlled trial enrolled 320 patients who exhibited persistent, bilateral, primary axillary hyperhidrosis sufficient to interfere with daily activities. These patients were treated with either 50 U BTX-A (Botox ® , Allergan, Inc., Irvine, CA, U.S.A.) or placebo in each axilla. QOL was assessed using the Hyperhidrosis Impact Questionnaire © (HHIQ) at baseline and 1, 4, 8, 12 and 16 weeks post-treatment, as well as the Medical Outcomes Trust Short Form-12 Health Survey © (SF-12) at baseline and 16 weeks post-treatment. Results  At baseline, participants reported a marked negative impact of hyperhidrosis on various measures, including emotional status, ability to participate in daily and social activities, productivity at work and number of clothing changes per day. During the post-treatment period, statistically and clinically significantly greater improvements in all of these parameters were observed for the BTX-A group compared with the placebo group ( P  〈 0·01). The BTX-A group improvements were observed within 1 week of treatment, and were sustained with little or no decline throughout the 16-week follow-up period. Compared with the baseline HHIQ responses regarding treatment history, BTX-A treatment resulted in a greater level of overall treatment satisfaction than did many other hyperhidrosis treatments. In addition, patients treated with BTX-A exhibited statistically significantly greater improvement in the physical component summary score of the SF-12 at 16 weeks than did placebo-treated patients ( P  ≤ 0·019). Conclusions  Hyperhidrosis is associated with a substantial QOL burden; however, QOL is markedly improved with BTX-A treatment.
    Type of Medium: Electronic Resource
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