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Case 11, Part 2. Angiokeratoma corporis diffusum (Fabry's disease).
Journal of Oral Surgery (American Dental Association : 1965)
|March 1, 1975
Summary
This case report details a patient with Fabry's disease experiencing dental abnormalities and facial pain. Despite surgical intervention, symptoms persisted, highlighting the systemic nature of this rare genetic disorder.
Area of Science:
- Dentistry
- Genetics
- Nephrology
Background:
- Fabry's disease is a rare X-linked genetic disorder.
- It results from alpha-galactosidase A deficiency, leading to globotriaosylceramide accumulation.
- This accumulation causes systemic complications, including vascular and renal issues.
Observation:
- A patient presented with multiple supernumerary, impacted, and unerupted teeth.
- Additional developmental abnormalities of the facial skeleton were noted.
- The patient suffered from persistent facial pain.
Findings:
- Surgical removal of impacted teeth was tolerated without complications.
- The dental surgery did not alleviate the patient's facial pain.
- The underlying Fabry's disease prognosis includes progressive vascular and renal degeneration.
Implications:
- This case underscores the importance of recognizing rare genetic disorders manifesting with dental anomalies.
- Early diagnosis and management are crucial for mitigating systemic complications of Fabry's disease.
- Renal transplantation is being considered, indicating the severity of renal involvement.