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

A 17-year-old white boy with signs, symptoms, and family history of angiokeratoma corporis diffusum universale, Anderson-Fabry disease (AFD), developed recurrent and then persistent swelling of both lips, erythematous hyperplastic gingivae, and a pebbled tongue. Positive blood findings were raised serum IgE, decreased T-cell level, and increased B-cell level. Histopathology of the gingiva showed noncaseating granulomas with multinucleate giant cells containing Schaumann bodies and large plasma-cell infiltrates in which immunofluorescence demonstrated immune globulins of several classes. Electron microscopy and histochemistry demonstrated ceramide in the vasculature. No glycolipid was found in the macrophages or giant cells of the granulomas which, in contrast, resembled sarcoid reactions. Plasma cells with Russell bodies and immune reaction-induced degranulation of mast cells were also identified. The pathogenesis of the oral findings possibly relates to altered immune reactivity associated with damage to the microvasculature analogous to that in Melkersson-Rosenthal syndrome.
 ...
PMID:Histopathology and electron and immunofluorescence microscopy of gingivitis granulomatosa associated with glossitis and cheilitis in a case of Anderson-Fabry disease. 10 30

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.
 ...
PMID:Granulomatous gingivitis in Anderson-Fabry disease. 676 13

Fucosidosis is a rare lysosomal storage disorder caused by deficient activity of the enzyme l-fucosidase in all tissues. We presented magnetic resonance imaging [MRI] and MR spectroscopy [MRS] findings of a 4-year-old boy with genetically proven fucosidosis. He had a history and clinical findings of recurrent sinopulmonary infections, hypertonicity on lower extremities, gingival hypertrophy, bilateral ptosis, angiokeratoma corporis diffusum, and dysostosis multiplex. He had no organomegaly and urine glycosaminoglycan analysis were normal. MRI revealed abnormalities within the globus pallidus and periventricular and subcortical white matter. MRS showed a peak at the 3.8-3.9 ppm as a result of accumulating carbohydrate containing macromolecules and another peak at 1.2 which was doublet and inverted on TE 135, suggesting fructose peak. A final diagnosis of fucosidosis was proved by mutational analysis of FUCA1 gene which is responsible for the Fucosidosis phenotype. Two recent reports of MRS of two patients demonstrated that MRS is specific for fucosidosis. In this case, we aim to discuss fucosidosis with MRI and MRS findings accompanied by the literature.
 ...
PMID:MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. 2651 23