Abstract
Dyskeratosis Congenita (DC) is a rare hereditary syndrome of ectodermal dystrophy (ungual dystrophy, poikiloderma atrophicans, leukoplakia) In which ½ of the reported cases have had pancytopenia (DC-P). These patients have an excessive incidence of infection presumably related to loss of normal mucous membrane barrier, pancytopenia and steroid therapy. We will report two more unrelated typical DC-P phenotypes with special attention to leukocyte function in one. Although previously not reported, both patients had bone marrow responses to oxymetholone within 3 months (erythroid>myeloid>megakaryocyte). Pt 1 had a low normal IgM of 51mg%: he expired from sepsis with an absolute neutrophil count of 3,000. Pt 2 has a low IgM of 27mg%: he has had less ungual pain on zinc and remains free of clinical infections. His monocyte function studies before oxymetholone, on zinc, demonstrated depressed spontaneous migration (50% of control, twice), no chemotactic response to zymosan activated serum (twice), and depressed chemiluminescence (65% of control, once). Response to MIF and production of colony stimulating factor were normal. Neutrophil function studies, lymphocyte mitogen response, and mixed lymphocyte culture stimulation were normal. Zinc therapy would not seem to be an explanation for these in vitro findings given the rapid egress of zinc from monocytes and the experimental conditions used. A primary monocyte defect may be present in DC-P.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Smith, C., Nelson, R., Fiegel, V. et al. DYSKERATOSIS CONGENITA WITH PANCYTOPENIA (DC-P): A MONOCYTE DEFECT?. Pediatr Res 11, 494 (1977). https://doi.org/10.1203/00006450-197704000-00748
Issue Date:
DOI: https://doi.org/10.1203/00006450-197704000-00748