[Erythropoietic protoporphyria (author's transl)].
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Biomedical subjects
Publications and source records attributed to S Nonaka.
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A 33-year-old male consulted us with symptoms of band-like infiltration, thickenning and subcutaneous induration occurring in the face, chest, back, shoulder and upper extremities. In the following time he developed arthralgia, fever and ocular symptoms. Laboratory tests revealed normal thyroid functions and a normal bone marrow picture, but there were immunological abnormalities such as reduced cellular immunity, decrease in C 3 (beta 1c/la) and positive antinuclear antibody. Histologically, there was an increase in fibroblasts and deposits of hyaluronic acid were revealed histochemically. A diagnosis of lichen myxedematosus was established. At present, all symptoms and signs including skin rash have disappeared following corticosteroid therapy and the patient is being followed up. So far as we have been able to trace, reports on lichen myxedematosus associated with immunological abnormalities as described here have not been found. The relationship between this pathology and immunological abnormalities are discussed.
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A spindle cell lipoma was removed surgically from the right intralaryngeal lesion of a 68-year-old man. Laryngoscopy demonstrated a spherical protrusion with intact mucosa near the vestibular fold. CT scan examination showed a low-density mass just medial to the thyroid cartilage. Light microscopy revealed that the circumscribed tumor consisted of mature lipocytes and spindle cells. Electron microscopy revealed that the spindle cells lacked a typical basal lamina. Such tumors are more frequent in the posterior aspect of the neck and shoulder regions. To our knowledge, this is the first reported case of a spindle cell lipoma within the larynx.
Primary position upbeat nystagmus has been associated predominantly with lesions of the midbrain, midline cerebellum, and lower brainstem. However, the precise localization still remains unclear. We report one case of primary position upbeat nystagmus in which magnetic resonance imaging showed probable bilateral lesions of the prepositus hypoglossi nuclei. Morphological and physiological studies have shown that this nucleus plays important roles in vertical eye movements. We conclude that the dysfunction of bilateral prepositus hypoglossi nuclei causes the upbeat nystagmus in our patient.
We investigated the clinical significance of the close association of Sjögren's syndrome (SS) with mixed connective tissue disease (MCTD) by analyzing the clinical manifestations, sialographic findings and immunological parameters of MCTD and primary SS. The prevalence of sialectasia or SS in MCTD was significantly higher than in any other connective tissue diseases. The prevalence of Raynaud's phenomenon, swollen fingers, arthralgias, lymphadenopathy, sclerodactyly, muscle weakness, fever and erythema was significantly higher in MCTD than in primary SS. There were no significant differences between these manifestations in MCTD patients with sialectasia or SS, and those in MCTD patients without sialectasia or SS. Although the levels or prevalence of the erythrocyte sedimentation rate, CRP, antinuclear factor, anti-DNA antibody and anti-RNP antibody were significantly greater in MCTD than in primary SS, there were no significant differences in the levels or the prevalence of laboratory abnormalities between MCTD with sialectasia or SS, and MCTD without sialectasia or SS. Moreover, there was a strict dissociation between the occurrence of anti-RNP antibody and anti-SS-B antibody both in MCTD and primary SS. These results suggest that the association of secondary SS or sialectasia in MCTD, although more common than in other connective tissue diseases, is merely a consequence of MCTD and does not influence the clinical course of MCTD.