Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review

Table 3 Dyskeratosis congenita (DC) cases with reported pulmonary disease who had a hematopoietic stem cell transplant (HSCT)

Case	Sex	DC Triad	Age at HSCT	Interval from HSCT to Pulmonary Symptoms	Age at Pulmonary Symptoms	Reported Pulmonary Findings	Lung Pathology (biopsy or autopsy)	Age Alive	Age Died	References
1	F	3	11	6	17	6 yr after HSCT restrictive lung disease, DLCO 21%	Interstitial fibrosis		19	[49, 50]
2	F	2	4.5	0.1	4.5	Interstitial infiltrates 3 mo after HSCT	Interstitial fibrosis		5	[51]
3	F	3	3	20	23	Respiratory symptoms 20 yr after HSCT	Interstitial fibrosis		23	[50]
4	M	2	26	0.2	26.3	Progressive acute idiopathic pneumonia	Interstitial pneumonitis, pulmonary fibrosis		26	[50]
5	M	2	2	6	8	6 yr after HSCT restrictive airway disease, CT interstitial pneumonitis,	Interstitial fibrosis		10	[52]
6	M	2	5	3	8	3 yr after HSCT CT interstitial pneumonitis	Fibrosis without bronchiolitis	12.5		[53]
7	F	1	7.5	0.5	7.5	Pulmonary complications 6 mo after HSCT			7.5	[54]
8	M	3	16	12	28	Restrictive pattern, DLCO 37%, CT UIP 12 yr after HSCT			28	[43]
9	M	0	27	0.5	27.5	173 days after HSCT, obliterative fibro-alveolitis	Obliterative bronchiolitis		28.3	[20, 55]
10	M	2	4		4	Pulmonary disease after HSCT		4		[46]
11	M	3			36	Post-HSCT lung disease			36	[46]
12	M	3	4	7	11	7 yr after HSCT interstitial fibrosis (see Table 1)	Interstitial fibrosis	14		(this report)

The details of the 11 DC cases (plus this case report) who had both pulmonary disease and HSCT are listed in Table 3. All ages are reported in years. Triad denotes the classic triad of DC and consists of nail dystrophy, oral leukoplakia, and lacy reticular pigmentation.
Abbreviations: HSCT, hematopoietic stem cell transplant; CT, computerized tomography; DC, dyskeratosis congenita; DLCO, diffusion capacity for carbon monoxide; F, female; M, male; UIP, usual interstitial pneumonitis.

ISSN: 2052-1839