Tuberc Respir Dis.  2013 Feb;74(2):70-73.

Interstitial Lung Disease in a Patient with Dyskeratosis Congenita

Affiliations
  • 1Department of Internal Medicine, Yeungnam University College of Medicine, Daegu, Korea. jhchn@med.yu.ac.kr
  • 2Regional Center for Respiratory Disease, Yeungnam University Medical Center, Daegu, Korea.
  • 3Department of Dermatology, Yeungnam University College of Medicine, Daegu, Korea.

Abstract

Dyskeratosis congenita is a rare congenital disorder characterized by a triad of reticular pigmentation of the skin, dystrophic nails, and leukoplakia of the mucous membrane. Sometimes it is associated with bone marrow failure, secondary malignancy and interstitial lung disease. Though it is rare, Dyskeratosis congenita is diagnosed relatively easily when clinicians suspect it. It can be diagnosed just by gross inspection with care. Dyskeratosis congenita should be considered as one cause associated with interstitial lung disease. In Korea, interstitial lung disease with dyskeratosis congenita has not been reported. We report a case and review the literature.

Keyword

Lung Diseases, Interstitial; Dyskeratosis Congenita; Anemia, Aplastic

MeSH Terms

Anemia, Aplastic
Bone Marrow
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dyskeratosis Congenita
Humans
Korea
Leukoplakia
Lung Diseases, Interstitial
Mucous Membrane
Nails
Pigmentation
Skin

Figure

  • Figure 1 Mucocutaneous triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia. (A) Abnormal fine reticular pigmentation around the neck. (B) Leukoplakia on the tongue. (C, D) Markedly atrophic and dystrophic finger and toe nails.

  • Figure 2 Chest X-ray and computed tomography taken on the first visit. (A) Fibrostreaky and reticular patterned infiltration at both lung fields. (B, C) Interstitial thickening along the subpleural area.

  • Figure 3 Chest X-ray and computed tomography 2 years later. (A) Increased in the bilateral basal reticulolinear shadows. (B, C) Progression of interstitial fibrosis at both lung subpleural areas.


Reference

1. Nishio N, Kojima S. Recent progress in dyskeratosis congenita. Int J Hematol. 2010. 92:419–424.
2. Walne AJ, Marrone A, Dokal I. Dyskeratosis congenita: a disorder of defective telomere maintenance? Int J Hematol. 2005. 82:184–189.
3. Kirwan M, Dokal I. Dyskeratosis congenita, stem cells and telomeres. Biochim Biophys Acta. 2009. 1792:371–379.
4. Choi DY, Koh CJ. A case of dyskeratosis congenita. Korean J Dermatol. 1988. 26:739–743.
5. Jeon JJ, Kim BH, Kang HJ, Lee KH, Choi JS, Hyun MS. A case of dyskeratosis congenita with aplastic anemia. Korean J Hematol. 1995. 30:321–327.
6. Kim DH, Kang HA, Park HJ, Kim CW, Kim HO. A case of dyskeratosis congenita. Ann Dermatol. 2000. 12:56–59.
7. Kim CY, Kim TH, Yoon TJ. A case of dyskeratosis congenita in a woman. Korean J Dermatol. 2001. 39:1162–1165.
8. Oh S, Kim BD, Lee DH, Lee KH. Dyskeratosis congenita. Korean J Dermatol. 2003. 41:377–380.
9. Walne AJ, Dokal I. Advances in the understanding of dyskeratosis congenita. Br J Haematol. 2009. 145:164–172.
10. Giri N, Lee R, Faro A, Huddleston CB, White FV, Alter BP, et al. Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: case report and systematic literature review. BMC Blood Disord. 2011. 11:3.
11. Imokawa S, Sato A, Toyoshima M, Yoshitomi A, Tamura R, Suda T, et al. Dyskeratosis congenita showing usual interstitial pneumonia. Intern Med. 1994. 33:226–230.
12. Dokal I. Dyskeratosis congenita. Hematology Am Soc Hematol Educ Program. 2011. 2011:480–486.
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