Dental Perspective of Rare Disease of Fanconi Anemia: Case Report with Review

Abstract

Fanconi anemia is an extremely rare genetic disease characterized by chromosomal instability that induces congenital alterations in individuals. It causes defective hemopoiesis ultimately leading to bone marrow failure. Patients are susceptible to recurrent infections and increased risk of hemorrhage, as well as delayed and poor wound healing. Herein, we report a case of Fanconi anemia in which various classical signs of the disease were present. The patient has been on regular follow-up since three and a half years for management of dental problems. The different aspects of this rare disorder are discussed with emphasis on oral manifestations and their influence on the general health of affected patients. Due to an increased susceptibility to developing cancers in this specific population, it is imperative for pediatric dentists to know about the common oral manifestations and potentially cancerous lesions, in order to make an early diagnosis and provide comprehensive care and maintenance of oral health in affected individuals.

Pediatric Dental Care in Fanconi Anemia: A Case Report

“…Hematologic complications progressively include increased pancytopenia, anemia, thrombocytopenia, leukopenia, macrocytosis, and fetal erythropoiesis. Oral manifestations can range from dental agenesis, supernumerary teeth, small teeth, abnormal roots, dental malformations, positioned teeth, dental caries, gingivitis, periodontal disease, oral mucosal lesions, and dysfunction of the salivary glands, to predisposition to develop oral cancers, such as Squamous Cell Carcinoma (SCC) (10).…”

Pregnancy after allogeneic hematopoietic stem cell transplantation in a Fanconi anemia patient

“…The prevalence of the disease is ~3 in 1,000,000 1,3. FA is the result of a mutation in various genes (~18 genes) involving a DNA repair process; it is a multisystem disease that primarily affects the stem cell of the WBC, RBC, and platelets 6. The result will be a pancytopenia.…”

“…Studies reported variable median survival ages ranging from 14 to 25 years. A large number of patients will progress to cancer, usually acute myelogenous leukemia (AML) and, in 90% of patients, the course continues to bone marrow failure when they reach the age of 40 years 6–8…”

“…However, only 50–70% of patients respond to treatment. BMT, the gold standard treatment, is an approach that is associated with elevated graft-versus-host disease (GVHD) and squamous cell carcinoma (SCC) 4,6…”

Localized gingival erythroleukoplakia in a 57-year-old Fanconi anemia patient: a case report

“…FA is an extremely rare autosomal recessive genetic disorder with a prevalence of 1 in 350 000 births [3], first described in 1927 by Guido Fanconi [4], involving mutations in 1 of 15 genes implicated in DNA repair. It is a genetically determined DNA-instability disease characterized by various congenital abnormalities (such as short stature, microcephaly, abnormal thumbs, skin pigmentations, and/or renal malformations), progressive bone marrow failure, and predisposition to cancer [3].…”