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Dyskeratosis Congenita or Chronic Graft-versus-Host Disease? A Diagnostic Dilemma in a Child Eight Years After Bone Marrow Transplantation for Aplastic Anemia
Authors:Rachel A Ivker  MD  John Woosley  MD  PhD  Steven D Resnick  MD
Institution:Department of Dermatology, University of North Carolina at Chapel Hill;Department of Pathology, University of North Carolina at Chapel Hill;Department of Pediairics, University of North Carolina at Chapel Hill
Abstract:Abstract: A 12-year-old boy had striking reticulate hyper pigmentation of the neck and upper chest, dystrophic nails, patchy alopecia, and a white streak on the buccai mucosa. He was diagnosed as having chronic graft-versus-host disease (GVHD) based on clinical findings, skin biopsy findings, and his history of a bone marrow transplantation for apiastic anemia eight years earlier. Dyskeratosis congenita (DC) was not a diagnostic consideration, although the clinical findings and history of aplastic anemia made it a compelling possibility. This case highlights the clinical similarities between DC and chronic GVHD and the difficulty in arriving at an unequivocal diagnosis.
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