Granulomatous gingivitis in Anderson-Fabry disease.

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.