Site Under Construction

Dyskeratosis congenita diagnosed in an adult male: clinical, dermoscopy and histopathological features

Margaret Stephanie L. Jimenez, MD, Mary Jo Kristine S. Bunagan MD, FPDS, Claribel L. Jimenez, MD, FPDS


Dyskeratosis congenita (DC), otherwise known as Zinsser-Engman Cole Syndrome is associated with the mucocutaneous triad of nail dystrophy, oral leukoplakia and abnormal reticulate skin pigmentation.1Ninety percent present with nail dystrophy initially affecting the fingernails followed by the toenails. It may begin with nail ridging and longitudinal splitting resulting in small or absent nails. Eighty percent of affected individuals present with mucosal leukoplakia which is a pathognomonic feature involving the buccal mucosa, tongue, and oropharynx. Noncutaneous abnormalities may also be observed in the gastrointestinal, genitourinary, neurological, ophthalmic and skeletal systems.


  1. Vulliamy T, Marrone A, Knight S, Walne A, Mason P, Dokal I.Advances in the Understanding of Dyskeratosis Congenita.Blood Apr 2006; 107 (7) 2680-2685.
  2. Knight S, Vulliamy T, Copplestone A, Gluckman E, Mason P, Dokal I. Dyskeratosis Congenita Registry: Identification of new features of Dyskeratosis CongenitaBr J Haematol 1998; 103(4) 990-96.
  3. Fernandez Garcia MS, Teruya-Feldstein J. The diagnosis and treatment of dyskeratosis congenital: a review. J Blood Med 2014;5:157-67.
  4. Connor JM, Gatherer D, Gray FC, Pirrit LA, Affara NA. Assignment of the gene for dyskeratosis congenital to Xq28 Human Genetics 1986; 72, 348–351.
  5. Philippine Dermatologic Society Health Information Systems. Philippine Dermatological Society. c2011 [updated May 5, 2017; cited September 12 2017]. Available by request from:
  6. Savage S, Cook E. Dyskeratosis Congenita and Telomere Biology Disorders [cited September 12, 2017]. Available from: 2015.
  7. Sorensen R, Werner K, Kobayashi T Dyschromatosis Universalis Hereditaria with Oral Leukokeratosis- A case of mistaken identity and review of the literature. Pediatric Dermatology 2015; (32)6 e283–e287.
  8. KarunakaranA, Ravindran R,Arshad M, Kodanda Ram M,and Shruthi Laxmi MK. Dyskeratosis Congenita: A Report of Two Cases. Case Reports in Dentistry. 2013; Article ID 845125.


REquesting Permission

Dyskeratosis congenita diagnosed in an adult male: clinical, dermoscopy and histopathological features