Indexed with PubMed and Science Citation Index (E) 
Users online: 3616 
     Home | Feedback | Login 
About Current Issue Archive Ahead of print Search Instructions Online Submission Subscribe What's New Contact  
  Navigate here 
   Next article
   Previous article 
   Table of Contents
 Resource links
   Similar in PUBMED
    Search Pubmed for
    Search in Google Scholar for
   Article in PDF (97 KB)
   Citation Manager
   Access Statistics
   Reader Comments
   Email Alert *
   Add to My List *
* Registration required (free)  

  In this article

 Article Access Statistics
    PDF Downloaded241    
    Comments [Add]    

Recommend this journal


Year : 2008  |  Volume : 74  |  Issue : 4  |  Page : 398-399

Fanconi's anemia

Department of Dermatology, Gandhi Medical College and Hospital, Musheerabad, Hyderabad, India

Correspondence Address:
Gnaneshwar A Rao
F-12, B8, HIG-2, Baghlingampally, Hyderabad- 500 044
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0378-6323.42922

Rights and Permissions

How to cite this article:
Rao GA. Fanconi's anemia. Indian J Dermatol Venereol Leprol 2008;74:398-9

How to cite this URL:
Rao GA. Fanconi's anemia. Indian J Dermatol Venereol Leprol [serial online] 2008 [cited 2020 Oct 29];74:398-9. Available from:


Fanconi described a fatal disorder in three brothers, that was characterized by pancytopenia, bone marrow hypoplasia and congenital anomalies. [1] Although rare, the disorder is sufficiently common that an international study group has been established to register clinical experience. [2] The disorder is characterized by a variable clinical picture consisting of pancytopenia, skeletal abnormalities, neurological and endocrine disorders, chromosomal instability, and an increased risk of leukemia and other tumors.

A seven year-old female child born to nonconsanguineous parents was brought to our out patient department for three year-old pigmentary changes on the trunk and limbs. There was no similar history in the family. General examination revealed gross pallor, while cutaneous examination revealed hypo- and hypopigmented macules 0.1-1 cm in size, distributed on the neck, trunk, and the dorsae of the hands and feet. Axillae, groins and palms and soles were also involved. A single cafι-au-lait macule was present on the chest. The left thumb showed syndactyly. Hemoglobin (Hb) was 3.5 g%; sickling test was negative while Hb electrophoresis showed the presence of HbA and HbF (15.7%). An X-ray of the left hand showed syndactyly of the left thumb. Ultrasonography of the abdomen showed a mild echogenic center in the liver. Bone marrow biopsy revealed a hypoplastic marrow of moderate degree. Histopathological examination of the skin showed a mild hyperkeratosis, vacuolation of the basal layer with melanin pigment incontinence. Cytogenic study of peripheral blood confirmed the diagnosis of Fanconi's anemia which showed a spontaneous chromosomal breakage of 1.37% and mitomycin stress induced chromosomal breakage of 4.52%. The cytogenic study was done at the Centre for DNA Fingerprinting and Diagnostics, Hyderabad.

Fanconi's anemia is a rare autosomal recessive disorder. Cells from Fanconi's anemia patients are uniquely hypersensitive to the damaging effects of DNA-modifying agents such as diepoxybutane and cyclophosphamide. [3] Currently, there are 11 known Fanconi's anemia genes. [4] The usual age of detection of the disease is about seven years but it may also be apparent at birth or the diagnosis may not be established until the 3 rd or 4 th decade of life. Cutaneous and hematological abnormalities may be the presenting manifestations. There is a generalized dusky or olive brown pigmentation, often most intense in the lower trunk, flexures and on the neck. Raindrop-like, depigmented macules are scattered over the dusky areas of pigmentation; [5] rarely, cafι-au-lait macules may be seen. Our case has most of the classical clinical features of Fanconi's anemia such as pigmentary changes, syndactyly and anemia. Affected children are usually slenderly built with short, broad hands and tapering fingers

A constant feature of Fanconi's anemia is progressive hypoplastic anemia with neutropenia and thrombocytopenia. Malformations of various organs are observed. Renal anomalies are seen in 28% of patients of Fanconi's anemia, which include renal aplasia and horseshoe kidney. Microcephaly, mental retardation and hypogonadism are frequent. Some (21%) patients have ocular abnormalities such as strabismus and microphtlamia. Hypogonadism is seen in 20% of all patients. Giempietro et al , have also reported four cases of Fanconi's anemia with pigmentary and digital anomalies. [6] Patients with Fanconi's anemia have a higher incidence of hematological malignancies, particularly nonlymphatic leukemia.

The course is often progressively downhill with death from infection, hemorrhage, or neoplasia. Most patients of Fanconi's anemia respond to corticosteroid therapy. The neutrophil count increases in most patients but the platelet response is less consistent. Patients with Fanconi's anemia need continuous maintenance androgen therapy. Hemopoietic stem cell gene therapy to reintroduce wild type cDNA, is a new concept in the treatment of hereditary diseases and may be applicable in Fanconi's anemia as this disorder can be successfully treated by allogenic stem cell transplantation. Umbilical cord blood cell transfusion can be an alternative source of hemopoietic stem cells for allogenic transplantation. Morimoto et al , have treated a five year-old girl suffering from Fanconi's anemia with umbilical cord blood cell transfusion. [7]

  References Top

1.Williams DM. Pancytopenia, Aplastic anemia and pure red cell aplasia. In: Richard Lee G, Foerster J, Lukens J, Paraskevas F, Greer JP, Rodgers GM, editors: Wintobe's clinical heamatology. 10 th ed. Lippincott Williams and Wilkins; 1999. p. 1472.  Back to cited text no. 1    
2.Giampietro PF, Verlander PC, Davis JG, Auerbach AD. Diagnosis of Fanconi's anemia in patients without congrnital malformations: An international Fanconi's anemia register study. Am J Med Genet 1997;68:58-61.  Back to cited text no. 2    
3.Kraemer KH. Heritable diseases with increased sensitivity to cellular injury: Fanconi's anemia. In: Freedberg IM, Eisen AZ, Wolff K, Austen FK, Golsmith LA, Katz SI, et al , editors. Dermatology in general medicine. 5 th ed, Mc Graw Hill, Inc; 1999. p. 1857-8.  Back to cited text no. 3    
4.Alter B. Diagnostic evaluation of Fanconi anemia. In: Owen J, Frohnmayer L, Eiler ME, editors; Fanconi anemia, standards of clinical care. 2 nd ed. Fanconi anemia Research Fund Inc; 2003. p. 10-11.  Back to cited text no. 4    
5.Bleehen SS, Anstey AV. Disorders of skin color: Fanconi's syndrome. In: Burns T, Breathnach S, Cox N, Griffiths C, editors, Rooks textbook of dermatology. 7 th ed. Blackwell Science; 2004. p. 39.22.  Back to cited text no. 5    
6.Giampietro PF, Auerbach AD, Elias ER, Gutman A, Zellers NJ, Davis JG. New recessive syndromes characterized by increased chromosomal breakage and several findings which overlap with Fanconi's anemia. Am J Med Genet 1998;78:70-5.  Back to cited text no. 6    
7.Morimoto T, Shikada M, Yabe H, Yabe M, Hattori K, Shimizu T, et al : Umbilical cord blood transplantation for a patient with Diamond - Blackfan syndrome. Jpn J Clin Haematol 1997;38:610-5.  Back to cited text no. 7    


Print this article  Email this article
Previous article Next article


Online since 15th March '04
Published by Wolters Kluwer - Medknow