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  • 1
    Electronic Resource
    Electronic Resource
    Trichothiodystrophy without photosensitivity (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 439-441 
    Details
    ISSN: 1432-1076
    Keywords: Trichothiodystrophy ; Photosensitivity ; DNA repair studies ; Ultramicroscopic skin findings
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of trichothiodystrophy (TTD) without photosensitivity is reported in an 8-year-old girl. Electron microscopic (EM) examination of the keratinocytes showed fibrillary bundles in the cytoplasm thinner and less electron dense than those of the normal cells and large membranebound vacuoles filled with granular-filamentous material. These findings could indicate a disturbance in the protein metabolism in tissues of ectodermal origin, explaining also the functional abnormalities of the central nervous system in TTD patients. The results of cellular DNA repair studies after UV irradiation in cultured fibroblasts showed normal levels of unscheduled DNA synthesis. This finding indicates that UV hypersensitivity is not constantly present in TTD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00496431
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  • 2
    Electronic Resource
    Electronic Resource
    Giant axonal neuropathy. Endocrinological and histological studies (1985)
    Springer
    European journal of pediatrics 144 (1985), S. 274-280 
    Details
    ISSN: 1432-1076
    Keywords: Grant axonal neuropathy ; Endocrinological study ; Ultramicro-scopic hair, sural nerve, conjunctiva, skin findings ; Vitamin B12 and prednisone therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of giant axonal neuropathy (GAN) in a boy of 4 years and 6 months, is reported. Nerve conduction velocity (NCV), EEG and CT scan indicated both peripheral and central nervous system involvement. Intestinal absorption tests did not reveal vitamin B12 malabsorption; the endocrine situation was found to be substantially normal. The clinical picture was not modified by 18 months cyanocobalamine administration followed by 2 months therapy with prednisone. Electron microscopic (EM) examination revealed longitudinal and opposing grooves (pili canaliculi) in the hair and bundles of neuro-filaments in the myelinated and unmyelinated nerve fibre axons in sural nerve. EM of conjunctiva and skin revealed masses of intermediate-sized filaments within mastcells, fibroblasts, melanocytes, endothelial and Schwann cells. These findings confirm the hypothesis that GAN is a generalised abnormality of cytoplasmic microfilament formation, probably linked to an unknown disorder of protein metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00451961
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  • 3
    Electronic Resource
    Electronic Resource
    Lisch nodules of the iris in neurofibromatosis type 1 (2004)
    Oxford, UK : Blackwell Science Ltd
    Journal of the European Academy of Dermatology and Venereology 18 (2004), S. 0 
    Details
    ISSN: 1468-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease. The Lisch nodule represents one of the most common NF1 ocular manifestations. Several studies have reported that the Lisch nodule is a melanocytic hamartoma but its pathogenesis is still debated. We have studied the histopathological and ultrastructural features of a Lisch nodule of a 50-year-old woman biopsied during an intracapsular cataract extraction. Our researches revealed that it was composed of three main cytotypes: pigmented cells, fibroblast-like cells and mast cells, showing a pattern similar to a neurofibroma. Furthermore, we hypothesize that Lisch nodules are compatible with neurofibromas.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1468-3083.2004.00915.x
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  • 4
    Electronic Resource
    Electronic Resource
    Neurofibromatosis type I and Arnold–Chiari malformation (2002)
    Oxford, UK : Blackwell Science Ltd
    Journal of the European Academy of Dermatology and Venereology 16 (2002), S. 0 
    Details
    ISSN: 1468-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1468-3083.2002.00392_7.x
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  • 5
    Electronic Resource
    Electronic Resource
    Erythema annulare centrifugum: report of a case with neonatal onset (2002)
    Oxford, UK : Blackwell Science Ltd
    Journal of the European Academy of Dermatology and Venereology 16 (2002), S. 0 
    Details
    ISSN: 1468-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Darier's erythema annulare centrifugum (EAC) is often associated with infectious, autoimmune or neoplastic disease, nevertheless, most cases of EAC remain unexplained. We report a case of EAC with neonatal onset and a clinical course of over 20 years. The patient presented from the 6th day of life with erythematous papules that enlarged centrifugally to form figurate, annular or policyclic plaques involving the entire cutaneous surface. The clinical picture had a chronic course, disappearing only during unrelated febrile episodes. Histologic examination revealed a normal epidermis and a dense perivascular lymphohistiocytic infiltrate and numerous eosinophils in the superficial and reticular dermis. Today the patient is 24 years old and his lesions are still unchanged. Recently, clinical evaluation revealed a diffuse sclerodermic induration. A second biopsy showed a diffuse thickening of collagen fibers in the dermis. To our knowledge, this is the second report of EAC with neonatal onset and such a long and peculiar clinical course.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1468-3083.2002.00546.x
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  • 6
    Electronic Resource
    Electronic Resource
    Toxic epidermal necrolysis (TEN) in a patient with non-Hodgkin lymphoma: successful treatment with dexamethasone at high dosage (2000)
    Oxford, UK : Blackwell Science Ltd
    Journal of the European Academy of Dermatology and Venereology 14 (2000), S. 0 
    Details
    ISSN: 1468-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1468-3083.2000.00037-2.x
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  • 7
    Electronic Resource
    Electronic Resource
    What’s new in trichothiodystrophy (2001)
    Oxford, UK : Blackwell Science Ltd
    Journal of the European Academy of Dermatology and Venereology 15 (2001), S. 0 
    Details
    ISSN: 1468-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1468-3083.2001.00218.x
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  • 8
    Electronic Resource
    Electronic Resource
    Juvenile colloid milium (1989)
    Oxford, UK : Blackwell Publishing Ltd
    Journal of cutaneous pathology 16 (1989), S. 0 
    Details
    ISSN: 1600-0560
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: A 7-year-old Italian girl with juvenile colloid milium was studied with histological, immunohistochemical, and electron microscopic methods. This patient had a well-documented history of severe sunburn and developed the lesions on the face shortly afterward. Numerous apoptotic keratinocytes were observed in the lower epidermis. These cells began their degeneration with filamentous whorl formation (or filamentous degeneration) of tonofilaments. In the papillary dermis the colloid substance was resolved by the electron microscopy into either wavy, thin filaments derived from the epidermal keratinocytes or typical amyloid filaments. Many desmosomes and gap junctions were found in the colloid substance. Polyclonal antikeratin antibody (DAKO) was positive in the colloid substance, particularly in the parts close to the epidermis. These findings suggested that juvenile colloid milium is different from adult colloid milium despite clinical similarities and that the former belongs to the group of actinic amyloid K, i.e. amyloidoses due to actinic degeneration of keratinocyte and its keratin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1600-0560.1989.tb00033.x
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  • 9
    Electronic Resource
    Electronic Resource
    Fatty acid synthase expression in melanoma (2003)
    Oxford, UK : Munksgaard International Publishers
    Journal of cutaneous pathology 30 (2003), S. 0 
    Details
    ISSN: 1600-0560
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background: Fatty acid synthase (FAS), the key enzyme responsible for the synthesis of fatty acids, is weakly expressed in some normal human tissues. Recently, FAS has been demonstrated to be overexpressed in many non-neoplastic highly proliferative lesions and in aggressive carcinomas with poor outcome, including colon, breast and ovary carcinomas. Methods: In order to evaluate the prognostic significance of FAS in human melanoma, we analysed by means of immunohistochemistry, using a monoclonal anti-FAS antibody, 77 primary melanomas and 30 nodal and cutaneous metastasis. Thirty nevi (15 dermal and 15 junctional nevi) were used as controls. All patients were followed-up for 5 years. Results: Thirty-four melanomas expressed strong FAS immunostaining; the remaining 43 cases showed weak expression or were negative. All cutaneous and nodal metastasis were strongly positive. All patients with metastases deceased during the follow up period. Control specimens expressed weak staining. None of these patients developed recurrence. Statistical analysis revealed significant association of FAS expression with Breslow thickness (p = 0.012). The intensity of FAS immunostaining was also predictive of prognosis (p = 0.049). Conclusions: FAS is a reliable prognostic marker in human melanomas. FAS predictive strength is increased when associated with Breslow thickness. The observation of FAS in human melanomas may stratify patients for stricter follow-ups and suggest different therapeutic approaches.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1034/j.1600-0560.2003.300104.x
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  • 10
    Electronic Resource
    Electronic Resource
    Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): case report with nodal and diffuse muco-cutaneous involvement (1998)
    Oxford, UK : Blackwell Publishing Ltd
    Journal of cutaneous pathology 25 (1998), S. 0 
    Details
    ISSN: 1600-0560
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Sinus histiocytosis with massive lymphadenopathy (SHML) (Rosai-Dorfman disease) is a rare self-limited histiocytic disorder of unknown origin, usually present with cervical lymphadenopathy, fever, elevated ESR and haematologic abnormalities. Extranodal lesions may occur as initial manifestations ofthe disease. In most cases skin lesions are associated with nodal or extranodal localization. A 54-year-old male is reported who, for a period of ten months, presented numerous slowly enlarging, rounded papular lesions on the face, neck, trunk as well as severe cervical lymphadenopathy without general and haematological disturbances. Thereafter a fungating mass developed in the nasal cavity. Histological, histochemical and immunohistochemical tests of skin, mucosal and lymph-node lesions were consistent with a diagnosis of SHML. The immunohistochemical characterization of the cytophagocytic S-100+ macrophages revealed that they were highly positive for the adhesion molecules Vitronectin receptor av/b3, which is used by tissue macrophages for removal of effete cells through phagocytosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1600-0560.1998.tb01742.x
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