Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A middle-aged man developed impotence, gynaecomastia, peripheral neuropathy, pigmentation lymphadenopathy, scleroderma, malabsorption and Raynaud's phenomenon following prolonged exposure to trichlorethylene. Somes, but not all, of these features have previously been reported in vinyl chloride disease, and trichlorethylene is related chemically to vinyl chloride. Seven patients with a similar but not identical syndrome have been described in Japan and U.S.A., apparently unrelated to exposure to industrial toxins.
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PMID:A new syndrome with pigmentation, scleroderma, gynaecomastia, Raynaud's phenomenon and peripheral neuropathy. 21 95

The ultrastructural finding of abnormal muscle mitochondria has been reported in various conditions, but mostly in association with the clinical picture of ophthalmoplegia, and in cases of "floppy infant" syndrome. In the case herein reported, the mitochondrial abnormalities were found in the muscle biopsy of a 49-year-old man suffering from a late onset proximal myopathy; he was affected also by polyneuropathy, subclinical thyroid dysfunction, disturbances of heart conduction, and unilateral gynaecomastia. The association of abnormal muscle mitochondria and late onset myopathy without involvement of the extraocular muscles has been reported in a very few cases. It is not possible, at present, to state that these cases represent a nosological entity; the existence of an underlying biochemical defect, accounting for the mitochondrial abnormalities, could be suspected, but it seems more probable that these changes are non-specific features of muscular damage, possibly related to the stage and the degree of the process. In this view, the coexistence of neurogenic damage, gastrointestinal malabsorption, and thyroid dysfunction, could play an additional role in the case herein described. Finally, the coexisting findings of cardiac, endocrine, and neuropathic damage are discussed with regard to the Kearns-Sayre syndrome, which also associates mitochondrial myopathy and multisystemic involvement.
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PMID:[Late myopathy with mitochondrial changes in the muscle]. 645 35

A 17-year-old boy had a 3-year history of diabetes mellitus, malabsorption syndrome, and skin changes consisting of induration, hyperpigmentation, and hypertrichosis on the anterior aspect of both thighs, lower abdomen, and scrotum. Physical examination found hypogonadism, hepatomegaly, gynecomastia, growth retardation, and ankle edema. There was no neuropathy or plasma cell dyscrasia. However, the characteristic skin changes and the combination of symptoms suggest polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome. This is a rare multisystemic disorder of obscure pathogenesis and no conspicuous heredity. Overproduction of vascular endothelial growth factor is thought to cause microangiopathy, neovascularization, and accelerated vasopermeability causing the multiorgan deterioration. Cyclophosphamid cytostatic therapy seems beneficial.
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PMID:POEMS in childhood. 1665 Feb 24