Five Fanconi anemia patients with unusual organ pathologies


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

AMERICAN JOURNAL OF HEMATOLOGY, cilt.77, ss.50-54, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 77 Konu: 1
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1002/ajh.20130
  • Dergi Adı: AMERICAN JOURNAL OF HEMATOLOGY
  • Sayfa Sayıları: ss.50-54

Özet

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.