PEDIATRICS Vol. 71 No. 4 April 1983, pp. 603-609
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Dyskeratosis Congenita: Two Examples of This Multisystem Disorder

Richard Womer MD1, Joseph E. Clark MD1, Pamela Wood MD1, Hernan Sabio MD1, and Thaddeus E. Kelly MD, PhD1

1 From the Department of Pediatrics, University of Virginia School of Medicine, Charlottesville

Two brothers with the X-linked disorder, dyskeratosis congenita, are described. They showed the dermatologic triad of reticular hyperpigmentation, dystrophic nails, and leukoplakia oris as well as the other major feature of this disorder, aplastic anemia. Less common features observed included prenatal and postnatal growth retardation, mental retardation, elevated immunoglobulin levels, and gastrointestinal hemorrhage from mucosal ulceration. Previously unreported findings were intracranial calcifications and nutmeg-like cirrhotic changes of the liver. These brothers demonstrated that skeletal changes and bony fragility may predate anemia or steroid therapy. Although a DNA repair defect is postulated as a possible primary defect, cytogenetic studies revealed no evidence of increased chromosomal breakage.

Key Words: aplastic anemia • bony fragility • mental retardation • intracranial calcification • pleiotropism

Submitted on December 24, 1981
Accepted on February 19, 1982




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B. Solder, M. Weiss, A. Jager, and B. H. Belohradsky
Dyskeratosis Congenita: Multisystemic Disorder with Special Consideration of Immunologic Aspects: A Review of the Literature
Clinical Pediatrics, September 1, 1998; 37(9): 521 - 530.
[Abstract] [PDF]