Granulomatous gingivitis in Anderson-Fabry disease

Area of Science:

• Genetics and rare diseases
• Oral medicine
• Histopathology

Background:

• Anderson-Fabry disease is a rare genetic lysosomal storage disorder.
• This case highlights an unusual presentation of granulomatous inflammation in the oral cavity.
• Differential diagnoses including Melkersson-Rosenthal syndrome and drug-induced gingival enlargement were considered.

Observation:

• A 17-year-old patient with Anderson-Fabry disease presented with gingival enlargement (gingivitis granulomatosa), cobbled tongue (glossitis granulomatosa), and lip enlargement (cheilitis granulomatosa).
• These oral findings were unique to the patient and not observed in other family members.
• Histochemical and electron microscopic studies confirmed ceramide deposition in blood vessels, consistent with Anderson-Fabry disease.

Findings:

• The patient's oral symptoms mimicked Melkersson-Rosenthal syndrome but were attributed to a unique manifestation of Anderson-Fabry disease.
• Granulomatous lymphadenopathy at age 11 was potentially linked to Anderson-Fabry disease, infection, or a reaction to Dilantin.
• Exclusion of sarcoidosis, other granulomatous diseases, and Dilantin-associated gingival enlargement was confirmed through various diagnostic tests.

Implications:

• This case expands the known clinical spectrum of Anderson-Fabry disease to include distinct oral granulomatous manifestations.
• It underscores the importance of thorough diagnostic evaluation for oral symptoms in patients with rare genetic disorders.
• Effective management of these oral symptoms can be achieved through diligent local dental therapy and regular follow-up.