Aplastic anemia in a patient with Rothmund-Thomson syndrome.
This report is the first to describe constitutional aplastic anemia in a patient with Rothmund-Thomson syndrome (also called poikiloderma congenitale), a disease characterized by multiple cutaneous and extracutaneous findings. The findings suggest that although Rothmund-Thomson syndrome is a rare disease, vigilance for the development of associated hematologic abnormalities is warranted.
Knoell
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KA
Department of Dermatology, Health Sciences Center, University of Virginia, Charlottesville 22908, USA.
Sidhu-Malik
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NK
Malik
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RK
D000741:Anemia, Aplastic / Q000150:complications* / Q000175:diagnosis; D001853:Bone Marrow / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006412:Hematopoietic Stem Cells / Q000473:pathology*; D006801:Humans; D011038:Rothmund-Thomson Syndrome / Q000150:complications* / Q000175:diagnosis; D012867:Skin / Q000473:pathology