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Facial infiltrating lipomatosis
1Craniofacial Centre and Division of Plastic and Oral Surgery at Children's Hospital, Harvard School of Dental Medicine and Harvard Medical School, Boston, MA 02115, USA.
Plastic and Reconstructive Surgery
|November 17, 2001
Summary
Facial infiltrating lipomatosis is a rare congenital disorder causing tissue overgrowth. Surgical removal is often unsuccessful due to regrowth, suggesting a need for better understanding of its causes.
Area of Science:
- Medical Genetics
- Pediatric Dentistry
- Plastic Surgery
Background:
- Facial infiltrating lipomatosis (FIL) is a rare congenital disorder characterized by lipocyte invasion.
- Key features include soft-tissue and skeletal hypertrophy, premature dental eruption, and macrodontia.
- High recurrence rates after subtotal resection complicate management.
Purpose of the Study:
- To analyze clinical features, radiographic findings, histopathology, and outcomes in 13 patients with FIL.
- To investigate potential genetic links to syndromes with similar soft-tissue findings.
- To explore the etiopathogenesis of facial infiltrating lipomatosis.
Main Methods:
- Retrospective analysis of 13 patients diagnosed with FIL in infancy.
- Clinical examination, computed tomography (CT), magnetic resonance imaging (MRI), and histopathology.
- Genetic testing for mutations associated with Cowden syndrome, Bannayan-Riley-Ruvalcava syndrome, and multiple endocrine neoplasia type 2B.
Main Results:
- Patients presented with cheek or chin enlargement, capillary blush, macroglossia, and mucosal neuromas.
- Early eruption of deciduous and permanent teeth was observed in most patients.
- All patients undergoing multiple resections experienced regrowth; genetic testing for known syndromes was negative.
Conclusions:
- Facial infiltrating lipomatosis presents with distinct clinical and radiographic features, often involving facial asymmetry and dental anomalies.
- Surgical management is challenging due to high recurrence rates.
- The etiology is likely related to somatic mutations affecting local growth factors rather than germline mutations in known syndromes.