Sign In
Individual Sign In
Create an Account
Institutional Sign In
OpenAthens Shibboleth
Views 1,464
Citations 0
Special Feature
July 2012

Picture of the Month—Diagnosis

Author Affiliations


Arch Pediatr Adolesc Med. 2012;166(7):658. doi:10.1001/archpediatrics.2012.189b
Fanconi Anemia

Photographs from an intraoral examination show the uneven brown discoloration of the tongue (Figure 1) and brown gums with smooth surface texture and generalized inflammation (Figure 2); these alterations are related to melanin deposition and poor oral hygiene, respectively, and are consistent with Fanconi anemia.1 Saleh and Stephen2 describe a generalized black hyperpigmentation on the oral mucosa of a patient with Fanconi anemia. Other oral manifestations include periodontitis, supernumerary teeth, and congenital anodontia. The augmented predisposition to periodontal disease in patients with Fanconi anemia may be due not only to pancytopenia and defective detoxification of oxygen radicals, which are typical of the disorder itself, but also to medications administered during immunosuppressive treatment.3

A generalized tan pigmentation of the skin, micrognathia, microcephaly, the absence of the fifth finger,4 growth retardation, and a congenital hip dislocation that required surgical treatment at age 1 year are all important features associated with this congenital disease.5 Hematologic analysis revealed macrocytic anemia, and pancytopenia due to bone marrow failure was confirmed by biopsy. A positive diepoxybutane test result demonstrated an increment on the chromosome-breaking rate in lymphocytes. Fanconi anemia cells have an abnormal cell cycle, with an increased frequency of cells arrested at the G2 phase. Using flow cytometry for diepoxybutane test analysis, we determined that 53.5% of cells stopped at the G2 phase.6 In addition to these characteristics, delayed eruption of permanent teeth was identified on a panoramic dental radiographic scan (Figure 3). The patient was successfully treated: her maxillary lateral, central incisors and her mandibular first left and right primary molars were extracted. A prosthetic removable appliance was placed on the upper anterior segment and lingual arch for mandibular space maintenance. The clinical findings and paraclinical analysis were consistent with Fanconi anemia.

Fanconi anemia is a rare autosomal recessive disorder, characterized by physical abnormalities, congenital malformation of the skeleton, bone marrow failure, and increased risk of malignancy. This malady affects both men and women, and members of all ethnic groups; however, it is more frequent in Ashkenazi Jews and the Afrikaans population of South Africa. Its frequency has been estimated at 1 in 350 000 births. The genes responsible for all of 15 Fanconi anemia complementation groups have been identified.7 However, Kim et al8 have reported that biallelic mutations in SLX4 cause a new subtype of Fanconi anemia, Fanconi anemia-P.

Image not available

Figure 3. Panoramic dental radiographic scan showing the unerupted teeth of a 16-year-old girl.

Fanconi anemia is the most common genetic origin of aplastic anemia and one of the most usual genetic causes of hematologic malignancy. Differential diagnosis is established with other diseases (with cells derived from individuals with chromosomal breakage), such as Bloom syndrome, Nijmegen breakage syndrome, Seckel syndrome, neurofibromatosis 1, TAR syndrome (thrombocytopenia-absent radium syndrome), and non–Fanconi anemia–related VACTERL association. Although there are a few reports about oral manifestations of Fanconi anemia, other disorders can be present with it, such as Peutz-Jeghers syndrome and Laugier-Hunziker syndrome, and treatment with interferon and ribavirin is usually prescribed. Although these rare oral signs are seen in other diseases and are not pathognomonic, the hyperpigmentation of the gums and tongue is highly suggestive of Fanconi anemia.

Return to Quiz Case.

Back to top
Article Information

Correspondence: Hector R. Martinez, MS, Department of Pediatric Dentistry, University of Monterrey, Ave Ignacio Morones Prieto, Ste 4500, San Pedro, 66238 Mexico (

Accepted for Publication: February 8, 2012.

Author Contributions:Study concept and design: Rivera and Martinez. Acquisition of data: Salinas, Escamilla, Rivera, and Martinez. Analysis and interpretation of data: Rivera and Martinez. Drafting of the manuscript: Salinas, Rivera, and Martinez. Critical revision of the manuscript for important intellectual content: Escamilla, Rivera, and Martinez. Administrative, technical, and material support: Salinas, Escamilla, Rivera, and Martinez. Study supervision: Rivera and Martinez.

Financial Disclosure: None reported.

Auerbach AD. Fanconi anemia.  Dermatol Clin. 1995;13(1):41-49PubMed
Saleh A, Stephen LX. Oral manifestations of Fanconi's anaemia: a case report.  SADJ. 2008;63(1):028-031PubMed
Açikgöz A, Ozden FO, Fisgin T,  et al.  Oral and dental findings in Fanconi's anemia.  Pediatr Hematol Oncol. 2005;22(6):531-539PubMedArticle
McGuirk CK, Westgate MN, Holmes LB. Limb deficiencies in newborn infants.  Pediatrics. 2001;108(4):E64PubMedArticle
Papadopoulo D, Moustacchi E. Fanconi's anemia: genes and function(s) revisited [in French].  Med Sci (Paris). 2005;21(8-9):730-736PubMedArticle
Moreira CF, Brito LC Jr, Lemos JA. Flow cytometry for diepoxybutane test analysis.  Genet Mol Res. 2008;7(4):1353-1359PubMedArticle
 Alter BP, Kupfer G. Fanconi anemia. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, eds. GeneReviews. Accessed August 3, 2011 
Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, Smogorzewska A. Mutations of the SLX4 gene in Fanconi anemia.  Nat Genet. 2011;43(2):142-146PubMedArticle