Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A man aged 54 years presented multiple symptoms (acroparesthesia, familial deafness, cardiomyopathy, diarrhea, adenopathy with infiltration of frothy macrophages, pancytopenia with a dense marrow, chronic meningitis, renal failure) associated with intermittent fever, with feverish attacks and a temperature of 40 degrees C, and with a severe biologic febrile syndrome. Fabry's disease was diagnosed only after 3 years of fruitless explorations. The reasons for this delay are analysed and it is suggested than Fabry's disease be added to the list of conditions responsible for fever or for a persistent inflammatory syndrome.
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PMID:[Fabry's disease. Rare etiology of a long-term inflammatory syndrome. Apropos of a case]. 309 72

The patient is suffering from Anderson-Fabry disease. This was documented by family history, clinical findings, histochemical and electronmicroscopic demonstration of ceramide in the blood vessels, and enzyme studies. The patient, at age 17, developed a unique gingival enlargement, gingivitis granulomatosa, a cobbled tongue, glossitis granulomatosa, and a lip enlargement, cheilitis granulomatosa. This was not found in other members of the family. The clinical, histological, and electronmicroscopic findings were analogous to Melkersson-Rosenthal syndrome. The patient did not have sarcoidosis or other specific granulomatous diseases. These were ruled out by skin examination, chest films, histology, and skin sensitivity testing, nor did he have Dilantin associated gingival enlargement. The patient had only taken the drug for a brief period at age 11 when he had a generalized granulomatous lymphadenopathy which was not categorized with certainty. This could have been secondary to Anderson-Fabry disease aggravated by a minor infection, an idiosyncratic reaction to Dilantin, or the lymph node equivalent of the granulomatous response that later affected the gingiva. Although the gingival enlargement appeared to be a manifestation of an unusual syndrome, local therapy in the form of oral hygiene instruction, dental prophylaxis, gingivectomy, and regular maintenance therapy was successful in treatment and prevention of recurrence.
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PMID:Granulomatous gingivitis in Anderson-Fabry disease. 676 13

Histiocytic disorders of the chest comprise a broad spectrum of diseases. The lungs may be involved in isolation or as part of systemic disease. Some of these disorders are primary and have unknown etiology, and others result from a histiocytic response to a known cause. Among primary histiocytic disorders, pulmonary Langerhans cell histiocytosis (PLCH) is the most common; others include Erdheim-Chester disease and Rosai-Dorfman disease. Adult PLCH occurs almost exclusively in adults aged 20-40 years who smoke. Pediatric PLCH is extremely rare and typically occurs as part of multisystemic disease. Erdheim-Chester disease affects middle-aged and older adults; thoracic involvement usually occurs as part of systemic disease. Rosai-Dorfman disease affects children and young adults and manifests as painless cervical lymphadenopathy. Examples of secondary histiocytic disorders are storage diseases such as Gaucher disease, Niemann-Pick disease, and Fabry disease; pneumoconiosis such as silicosis and coal workers' pneumoconiosis; and infections such as Whipple disease and malakoplakia. These disorders are characterized at histopathologic examination on the basis of infiltration of alveoli or the pulmonary interstitium by histiocytes, which are a group of cells that includes macrophages and dendritic cells. Dendritic cells are a heterogeneous group of nonphagocytic antigen-presenting immune cells. Immunohistochemical markers help to distinguish among various primary histiocytic disorders. Characteristic radiologic findings in the appropriate clinical context may obviate biopsy to establish a correct diagnosis. However, in the absence of these findings, integration of clinical, pathologic, and radiologic features is required to establish a diagnosis.
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PMID:Histiocytic disorders of the chest: imaging findings. 2576 22