Recognition of Fanconi Anemia Through Oral Manifestations in a Pediatric Patient: A Case Report

Background Fanconi anemia (FA) is an uncommon inherited disorder characterized by bone marrow failure, congenital anomalies, and increased susceptibility to malignancy. Early signs may appear in the oral cavity, making dental evaluation important for prompt detection in pediatric patients. This case highlights the importance of oral findings in early recognition of FA and the role of dentists in prompt referral and interdisciplinary management. Case report A 9-year-old girl presented with gingival bleeding for 1 month. Examination revealed severe gingival inflammation with intraoral petechiae. Routine blood tests revealed pancytopenia. Bone marrow biopsy revealed a hypocellular marrow, and FA was confirmed by cytogenetic analysis. Tooth #55 was extracted under hospital admission, following platelet transfusion and antibiotic prophylaxis. The patient subsequently underwent bone marrow transplantation (BMT) with immunosuppressive therapy and radiotherapy, resulting in complete resolution of gingival inflammation. She continues to be under regular follow-up with hematology and pediatric dental care. Conclusion Early identification of oral signs can aid dental professionals in suspecting systemic disorders such as FA, allowing timely referral, diagnosis, and multidisciplinary management.

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Publication Details

Journal
Journal of Applied Dentistry and Oral Sciences
Published
2026-05-01
DOI
https://doi.org/10.1177/30497418261431132
Primary Topic
Oral Health Pathology and Treatment
Type
article
Field-Weighted Citation Impact
0.00
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article

Recognition of Fanconi Anemia Through Oral Manifestations in a Pediatric Patient: A Case Report

Olando K D'souza, Voleti Sri Srujana Aravinda, Siya Dukle, M Jaganath Venkat
Journal of Applied Dentistry and Oral Sciences
Oral Health Pathology and Treatment
article

Recognition of Fanconi Anemia Through Oral Manifestations in a Pediatric Patient: A Case Report

Olando K D'souza, Voleti Sri Srujana Aravinda, Siya Dukle, M Jaganath Venkat
article en

Abstract

Background Fanconi anemia (FA) is an uncommon inherited disorder characterized by bone marrow failure, congenital anomalies, and increased susceptibility to malignancy. Early signs may appear in the oral cavity, making dental evaluation important for prompt detection in pediatric patients. This case highlights the importance of oral findings in early recognition of FA and the role of dentists in prompt referral and interdisciplinary management. Case report A 9-year-old girl presented with gingival bleeding for 1 month. Examination revealed severe gingival inflammation with intraoral petechiae. Routine blood tests revealed pancytopenia. Bone marrow biopsy revealed a hypocellular marrow, and FA was confirmed by cytogenetic analysis. Tooth #55 was extracted under hospital admission, following platelet transfusion and antibiotic prophylaxis. The patient subsequently underwent bone marrow transplantation (BMT) with immunosuppressive therapy and radiotherapy, resulting in complete resolution of gingival inflammation. She continues to be under regular follow-up with hematology and pediatric dental care. Conclusion Early identification of oral signs can aid dental professionals in suspecting systemic disorders such as FA, allowing timely referral, diagnosis, and multidisciplinary management.

Journal of Applied Dentistry and Oral Sciences
Goa Dental College and Hospital (IN), Kamineni Institute of Dental Sciences (IN)
Good health and well-being
Openalex Percentile: Top 7%
Oral Health Pathology and Treatment
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