Case ReportUsual Interstitial Pneumonia Complicating Dyskeratosis Congenita
Section snippets
Case 1
A 28-year-old man presented with a 6-month history of shortness of breath, dry cough, and fatigue. He had a minimal smoking history but no history of connective tissue disorder, known fibrogenic drug exposure, environmental or occupational exposure linked to pulmonary fibrosis, or cardiopulmonary disease. His medical history was remarkable for DC. His known family history was negative for DC (his father had been adopted and had died in an accident at age 25 years). His first recognized
DISCUSSION
Dyskeratosis congenita is an inherited condition in which abnormal cutaneous pigmentation occurs in combination with nail dystrophy and mucosal leukoplakia.1 These symptoms usually appear when patients are between 5 and 10 years old, although they may occur earlier or later.1 Other features of DC include bone marrow failure, mental retardation, pulmonary disease, and genitourinary, skeletal, and gastrointestinal abnormalities.2, 3 Bone marrow failure and pulmonary disease are the 2 most serious
REFERENCES (25)
- et al.
Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements
Blood
(1992) Dyskeratosis congenita in all its forms
Br J Haematol
(2000)- et al.
Dyskeratosis Congenita (DC) Registry: identification of new features of DC
Br J Haematol
(1998) - et al.
Dyskeratosis congenita with pancytopenia: another constitutional anemia
Am J Dis Child
(1973) - et al.
Late vascular complications after bone marrow transplantation for dyskeratosis congenita
Br J Haematol
(1991) - et al.
Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation
Bone Marrow Transplant
(1997) - et al.
Correction of bone marrow failure in dyskeratosis congenita by bone marrow transplantation
Bone Marrow Transplant
(1999) - et al.
Low-intensity hematopoietic stem-cell transplantation across human leucocyte antigen barriers in dyskeratosis congenita
Bone Marrow Transplant
(2003) - et al.
Unusual complications after bone marrow transplantation for dyskeratosis congenita
Br J Haematol
(1998) - et al.
Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita
Br J Haematol
(1996)