eMedicine Specialties > Dermatology > Pediatric Diseases

Dyskeratosis Congenita: Follow-up

Author: David T Robles, MD, PhD, Resident Physician, Department of Internal Medicine, Division of Dermatology, University of Washington School of Medicine
Coauthor(s): Jonathan M Olson, BS, University of Washington School of Medicine; Edward F Chan, MD, Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Philip H Fleckman, MD, Professor, Department of Internal Medicine, Division of Dermatology, University of Washington
Contributor Information and Disclosures

Updated: Jan 28, 2008

Follow-up

Complications

Patients with DKC should avoid drugs with pulmonary toxicity (eg, busulfan) and should have their lungs shielded from radiation during BMT. Additionally, some authorities recommend routine endoscopic surveillance beginning at age 30 years in known cases of DKC, along with general precautions like sun and tobacco avoidance.

Prognosis

DKC is a multisystem disorder that carries a poor prognosis (mean survival of 30 y), with most deaths related to infections, bleeding, and malignancy. In the DKC registry, approximately 70% of affected individuals died of bone marrow failure or its complications, and these deaths occurred at a median age of 16 years. Therapeutic interventions are mostly palliative, but BMT and SCT for aplastic anemia have been tried with variable success. Wide variation in clinical phenotype may occur in individuals, suggesting that other genetic or environmental factors may be contributory. The prognosis is worse for the X-linked and autosomal forms compared with the autosomal dominant form.

Hoyeraal-Hreidarsson (HH) syndrome is also associated with mutations in DKC1. Mutations in this gene have been described in patients with HH syndrome, which is characterized by intrauterine growth restriction, microcephaly, mental retardation, cerebellar malformation, and progressive bone marrow failure. Mucosal ulcerations have been found in a few patients, and some authorities hypothesize that HH syndrome may be a severe variant of DKC in which affected individuals die before the development of mucocutaneous findings. One study found that patients with HH syndrome have significantly shorter telomeres than those with the milder form of disease. The severe neurologic deficits in this severe form point to an important role of the DKC1 gene in brain function.

Miscellaneous

Medicolegal Pitfalls

  • Failure to offer prenatal or postnatal testing in appropriate individuals
  • Failure to avoid the administration of drugs with pulmonary toxicity (eg, busulfan) and to shield the lungs of affected patients from radiation during BMT

Special Concerns

  • DNA testing of the genes responsible for the X-linked and autosomal dominant forms of DKC makes several options possible, including prenatal testing, early diagnosis via postnatal testing (which may, in turn, enable harvesting of the patient's bone marrow before marrow failure), and carrier detection. Testing is available through the DKC registry and through GeneDx. The following other resources may be helpful:
    • Dyskeratosis Congenita Registry: This contains the largest collection of DKC patients, with clinical and genetic information on more than 200 families from 40 different countries, comprising more than 350 affected individuals. The address is HammersmithHospital, CommonwealthBuilding, 4th Floor, Du Cane Road, LondonW12 ONN, United Kingdom. 
    • Dyskeratosis Congenita Society: The address is Institute of Cell and Molecular Science, Barts and The London, Queen Mary's School of Medicine and Dentistry, 4 Newark Street, London E1 2AT United Kingdom.
    • National Organization for Rare Disorders: The address is 55 Kenosia Avenue, PO Box 1968, Danbury, CT 06813-1968.
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous Editor-in-Chief, William James, MD, to the development and writing of this article.



More on Dyskeratosis Congenita

Overview: Dyskeratosis Congenita
Differential Diagnoses & Workup: Dyskeratosis Congenita
Treatment & Medication: Dyskeratosis Congenita
Follow-up: Dyskeratosis Congenita
References
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References

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Further Reading

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Keywords

Zinsser-Engman-Cole syndrome, DKC, Hoyeraal-Hreidarsson syndrome, bone marrow failure, congenital dyskeratosis, reticular skin hyperpigmentation, nail dystrophy, oral leukoplakia, pancytopenia, testicular atrophy

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Contributor Information and Disclosures

Author

David T Robles, MD, PhD, Resident Physician, Department of Internal Medicine, Division of Dermatology, University of Washington School of Medicine
David T Robles, MD, PhD is a member of the following medical societies: American Academy of Dermatology and Society for Advancement of Chicanos and Native Americans in Science
Disclosure: Nothing to disclose.

Coauthor(s)

Jonathan M Olson, BS, University of Washington School of Medicine
Disclosure: Nothing to disclose.

Edward F Chan, MD, Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania School of Medicine
Edward F Chan, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

Philip H Fleckman, MD, Professor, Department of Internal Medicine, Division of Dermatology, University of Washington
Philip H Fleckman, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Society for Cell Biology, Phi Beta Kappa, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Jean Paul Ortonne, MD, Chair, Department of Dermatology, Professor, Hospital L'Archet, Nice University, France
Jean Paul Ortonne, MD is a member of the following medical societies: American Academy of Dermatology and American Dermatological Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA
Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center
Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery
Disclosure: Nothing to disclose.

CME Editor

Glen H Crawford, MD, Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital
Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

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