Five Fanconi anemia patients with unusual organ pathologies

ÜNAL S., Ozbek N., Kara A., Alikasifoglu M., Gumruk F.

AMERICAN JOURNAL OF HEMATOLOGY, vol.77, no.1, pp.50-54, 2004 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 77 Issue: 1
  • Publication Date: 2004
  • Doi Number: 10.1002/ajh.20130
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.50-54
  • Keywords: Fanconi anemia, organ, pathologies, EPIDERMAL NEVUS, HIATUS
  • Hacettepe University Affiliated: Yes


Fanconi anemia (FA) is a rare autosomal recessive disorder that presents with variable organ abnormalities, progressive cytopenia, and susceptibility to the development of several malignancies. Although some of the organ pathologies such as microcephaly, microphthalmia, skin dyspigmentation, urogenital system involvement, and radial ray skeletal abnormalities are relatively common, there are some other abnormalities that are rarely associated with the disease [Alter BP. In: Nathan DG, Oski FA, editors. Hematology of infancy and childhood. Philadelphia: Saunders; 2003. p 259-273]. In this paper, five cases of unrelated FA patients with unusual organ pathologies, including chronic obstructive lung disease, lipodystrophy, Sprengel's deformity, diaphragmatic hernia, and inflammatory linear verrucous epidermal nevus (ILVEN) are presented. Recognition of unusual pathologies associated with FA is important in order to improve our understanding of the relationship between the disease and presenting organ pathologies. (C) 2004 Wiley-Liss, Inc.