0
We're unable to sign you in at this time. Please try again in a few minutes.
Retry
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
Retry
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Special Feature |

Picture of the Month—Diagnosis FREE

[+] Author Affiliations

SECTION EDITOR: SAMIR S. SHAH, MD, MSCE

More Author Information
Arch Pediatr Adolesc Med. 2012;166(7):658. doi:10.1001/archpediatrics.2012.189b.
Text Size: A A A
Published online

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.

Place holder to copy figure label and caption
Graphic Jump Location

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.

Correspondence: Hector R. Martinez, MS, Department of Pediatric Dentistry, University of Monterrey, Ave Ignacio Morones Prieto, Ste 4500, San Pedro, 66238 Mexico (hector.martinez@udem.edu.mx).

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):41-49
PubMed
Saleh A, Stephen LX. Oral manifestations of Fanconi's anaemia: a case report.  SADJ. 2008;63(1):028-031
PubMed
Açikgöz A, Ozden FO, Fisgin T,  et al.  Oral and dental findings in Fanconi's anemia.  Pediatr Hematol Oncol. 2005;22(6):531-539
PubMed   |  Link to Article
McGuirk CK, Westgate MN, Holmes LB. Limb deficiencies in newborn infants.  Pediatrics. 2001;108(4):E64
PubMed   |  Link to Article
Papadopoulo D, Moustacchi E. Fanconi's anemia: genes and function(s) revisited [in French].  Med Sci (Paris). 2005;21(8-9):730-736
PubMed   |  Link to Article
Moreira CF, Brito LC Jr, Lemos JA. Flow cytometry for diepoxybutane test analysis.  Genet Mol Res. 2008;7(4):1353-1359
PubMed   |  Link to Article
 Alter BP, Kupfer G. Fanconi anemia. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, eds. GeneReviews. http://www.ncbi.nlm.nih.gov/pubmed/20301575. 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):142-146
PubMed   |  Link to Article

Figures

Place holder to copy figure label and caption
Graphic Jump Location

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

Tables

References

Auerbach AD. Fanconi anemia.  Dermatol Clin. 1995;13(1):41-49
PubMed
Saleh A, Stephen LX. Oral manifestations of Fanconi's anaemia: a case report.  SADJ. 2008;63(1):028-031
PubMed
Açikgöz A, Ozden FO, Fisgin T,  et al.  Oral and dental findings in Fanconi's anemia.  Pediatr Hematol Oncol. 2005;22(6):531-539
PubMed   |  Link to Article
McGuirk CK, Westgate MN, Holmes LB. Limb deficiencies in newborn infants.  Pediatrics. 2001;108(4):E64
PubMed   |  Link to Article
Papadopoulo D, Moustacchi E. Fanconi's anemia: genes and function(s) revisited [in French].  Med Sci (Paris). 2005;21(8-9):730-736
PubMed   |  Link to Article
Moreira CF, Brito LC Jr, Lemos JA. Flow cytometry for diepoxybutane test analysis.  Genet Mol Res. 2008;7(4):1353-1359
PubMed   |  Link to Article
 Alter BP, Kupfer G. Fanconi anemia. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, eds. GeneReviews. http://www.ncbi.nlm.nih.gov/pubmed/20301575. 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):142-146
PubMed   |  Link to Article

Correspondence

CME
Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
Submit a Comment

Multimedia

Some tools below are only available to our subscribers or users with an online account.

Related Content

Customize your page view by dragging & repositioning the boxes below.

Articles Related By Topic
Related Collections