Dyskeratosis congenita overview

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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

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

↑ 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.

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[omim-1] Online Mendelian Inheritance in Man (OMIM) 305000

[Andrews-2] James, William; Berger, Timothy; Elston, Dirk (2005). Andrews’ Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

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