All of the following are TRUE about dyskeratosis congenita, EXCEPT:
Correct Answer: Cutaneous depigmentation
Description: Dyskeratosis congenita, the Zinsser-Cole-Engman syndrome, is an X-linked multisystem disease with cutaneous, mucosal, ocular, gastrointestinal, and hematologic abnormalities and an increased incidence of cancer. The most common features are a triad of reticulated hyperpigmentation, dystrophic nails, and mucosal leukoplakia. Nail dystrophy is present in viually all patients. Leukoplakia may be present in any mucosal site. Shoened telomere length in leukocytes can be assessed by flow cytometric fluorescence in situ hybridization studies. Ref: Runger T.M., DiGiovanna J.J., Kraemer K.H. (2012). Chapter 139. Hereditary Disorders of Genome Instability and DNA Repair. In L.A. Goldsmith, S.I. Katz, B.A. Gilchrest, A.S. Paller, D.J. Leffell, N.A. Dallas (Eds), Fitzpatrick's Dermatology in General Medicine, 8e.
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Skin
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