PEDIATRICS Vol. 67 No. 6 June 1981, pp. 898-903
This Article
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by De Boeck, K.
Right arrow Articles by Casteels-Van Daele, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by De Boeck, K.
Right arrow Articles by Casteels-Van Daele, M.

Thrombocytopenia: First Symptom in a Patient with Dyskeratosis Congenita

Kris De Boeck MD1, H. Degreef MD1, R. Verwilghen MD1, L. Corbeel MD1, and Maria Casteels-Van Daele MD1

1 Departments of Pediatrics, Dermatology, and Hematology, Academische Ziekenhuizen, University of Leuven, Belgium

A case of dyskeratosis congenita is reported. This rare hereditary disease usually has the following progression: ectodermal dystrophy (reticular skin pigmentation, nail dystrophy, leukokeratosis of mucosal membranes), appearing in the first decade, followed in about 50% of these patients by a hematopoietic disorder resembling Fanconi's anemia, usually developing in the second or third decade. Carcinomas may occur in leukokeratotic areas in the third, fourth, or fifth decade. This patient's clinical course is interesting because the thrombocytopenia developed as an isolated symptom at the age of 5 years and preceded the skin anomalies by three years. The diagnosis of dyskeratosis congenita was made only after an evolution of five years. The diagnosis of dyskeratosis congenita—although it is a rare disease—should be considered in every child first seen with aplastic anemia or thrombocytopenia.

Submitted on April 28, 1980
Accepted on September 12, 1980




This article has been cited by other articles:


Home page
 CLIN PEDIATRHome page
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]