  |
|
 |
|
Case Report
| ||||||
| Dyskeratosis congenita with leukoplakia: The differential diagnosis to consider and multidisciplinary management | ||||||
| Lauren Magnani1, Danilo C. Delcampo2, Marian Russo3 | ||||||
|
1New York Medical College, Medical Student, New York Medical College, New York, NY, USA.
2Department of Dermatology, New York Medical College, Resident Physician, Department of Dermatology, New York Medical College, New York, NY, USA. 3Department of Dermatology, New York Medical College, Associate Professor in Dermatology, Department of Dermatology, New York Medical College, New York, NY, USA. | ||||||
| ||||||
|
[HTML Full Text]
[PDF Full Text]
[Print This Article]
[Similar article in Pumed] [Similar article in Google Scholar] 
|
| How to cite this article |
| Magnani L, Delcampo DC, Russo M. Dyskeratosis congenita with leukoplakia: The differential diagnosis to consider and multidisciplinary management. Int J Case Rep Images 2016;7(9):599–602. |
|
Abstract
|
|
Introduction:
Dyskeratosis congenita (DC) is a rare genetic condition with a multitude of implications in all organ systems, including bone marrow failure, lung disease, and malignancies. The syndrome is marked by a classic triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. Patients are at increased risk of squamous cell carcinoma and hematolymphoid neoplasms. Clinicians need to pursue multidisciplinary management for this rare condition.
Case Report: We hereby present a case of an eight-year-old girl with dyskeratosis congenita with leukoplakia, nail dystrophy, and skin hyperpigmentation. Conclusion: Herein, we report a case of presumed sporadic mutation for DC in a patient with leukoplakia on lingual surface with no family history of similar condition. In such rare genetic conditions, case reports are crucial in expanding the knowledge base pertaining to DC. Multidisciplinary healthcare is paramount to treating this condition. | |
|
Keywords:
Genetic, Inherited, Leukoplakia, Pediatric, Syndrome
| |
|
[HTML Full Text]
[PDF Full Text]
|
|
Author Contributions
Lauren Magnani – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Danilo C. Delcampo – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Final approval of the version to be published Marian Russo – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Final approval of the version to be published |
|
Guarantor of submission
The corresponding author is the guarantor of submission. |
|
Source of support
None |
|
Conflict of interest
Authors declare no conflict of interest. |
|
Copyright
© 2016 Lauren Magnani et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information. |
|
|