title: Piebaldism associated with congenital dyserythropoietic anemia type II (HEMPAS).
abstract: Congenital dyserythropoietic anemias (CDAs) are a group of relatively rare inherited anemias. They are characterized by ineffective erythropoiesis and classified as three major groups and a number of variants. CDA type II, also known as hereditary erythroblastic multinuclearity with a positive acidified serum test (HEMPAS), is the most frequent one. A number of associations with CDA II have been reported, although each described only one or a few patients. Here we presented a piebald woman with vaginal atresia who was tested for anemia and diagnosed as CDA type II. Piebaldism and anemia association were previously described in the mouse. Our case was the first that shows the features of both piebaldism and CDA in the same patient. This association may suggest a stem cell defect to cause both hematopoietic and cutaneous manifestations.
authors.affiliation: Department of Hematology, Hacettepe University Medical School, Ankara, Turkey. gskoklu@yahoo.com
authors.forename: Seyfettin
authors.initials: S
authors.lastname: Köklü
authors.forename: Derun
authors.initials: D
authors.lastname: Ertuğrul
authors.forename: Ahmet Mesut
authors.initials: AM
authors.lastname: Onat
authors.forename: Sema
authors.initials: S
authors.lastname: Karakuş
authors.forename: Ibrahim C
authors.initials: IC
authors.lastname: Haznedaroğlu
authors.forename: Yahya
authors.initials: Y
authors.lastname: Büyükaşik
authors.forename: Nilgün
authors.initials: N
authors.lastname: Sayinalp
authors.forename: Osman
authors.initials: O
authors.lastname: Ozcebe
authors.forename: Semra V
authors.initials: SV
authors.lastname: Dündar
mesh_terms: D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications* / Q000209:etiology / Q000473:pathology; D005260:Female; D006801:Humans; D016116:Piebaldism / Q000150:complications* / Q000209:etiology / Q000473:pathology; D014621:Vagina