Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Dyskeratosis congenita overview
Introduction
Overview
Overview
Dyskeratosis congenita[1][2] is a rare progressive congenital disorder that in some ways resembles premature aging (similar to progeria). The disease mainly affects the integumentary system, the organ system that protects the body from damage, with a major consequence being anomalies of the bone marrow.
Diagnosis
Diagnosis
Physical Examination
The triad of reticulated hyperpigmentation of the skin, nail dystrophy, and leukoplakia characterizes DKC. The syndrome is clinically heterogeneous; in addition to the diagnostic mucocutaneous features and bone marrow failure, affected individuals can have a variety of other clinical features.
References
References
- ↑ Online Mendelian Inheritance in Man (OMIM) 305000
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews’ Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]