Recurrent pulmonary infection and oral mucosal ulcer

KUANG Fei-Mei; TANG Lan-Lan; ZHANG Hui; XIE Min; YANG Ming-Hua; YANG Liang-Chun; YU Yan; CAO Li-Zhi

doi:10.7499/j.issn.1008-8830.2017.04.018

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Chinese Journal of Contemporary Pediatrics ›› 2017, Vol. 19 ›› Issue (4) : 452-457. DOI: 10.7499/j.issn.1008-8830.2017.04.018

CASE ANALYSIS

Recurrent pulmonary infection and oral mucosal ulcer

KUANG Fei-Mei, TANG Lan-Lan, ZHANG Hui, XIE Min, YANG Ming-Hua, YANG Liang-Chun, YU Yan, CAO Li-Zhi

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Abstract

An 8-year-old girl who had experienced intermittent cough and fever over a 3 year period, was admitted after experiencing a recurrence for one month. One year ago the patient experienced a recurrent oral mucosal ulcer. Physical examination showed vitiligo in the skin of the upper right back. Routine blood tests and immune function tests performed in other hospitals had shown normal results. Multiple lung CT scans showed pulmonary infection. The patient had recurrent fever and cough and persistent presence of some lesions after anti-infective therapy. The antitubercular therapy was ineffective. Routine blood tests after admission showed agranulocytosis. Gene detection was performed and she was diagnosed with dyskeratosis congenita caused by homozygous mutation in RTEL1. Patients with dyskeratosis congenita with RTEL1 gene mutation tend to develop pulmonary complications. Since RTEL1 gene sequence is highly variable with many mutation sites and patterns and can be inherited via autosomal dominant or recessive inheritance, this disease often has various clinical manifestations, which may lead to missed diagnosis or misdiagnosis. For children with unexplained recurrent pulmonary infection, examinations of the oral cavity, skin, and nails and toes should be taken and routine blood tests should be performed to exclude dyskeratosis congenita. There are no specific therapies for dyskeratosis congenita at present, and when bone marrow failure and pulmonary failure occur, hematopoietic stem cell transplantation and lung transplantation are the only therapies. Androgen and its derivatives are effective in some patients. Drugs targeting the telomere may be promising for patients with dyskeratosis congenita.

Key words

Dyskeratosis congenita / Pulmonary infection / Oral mucosal ulcer / Skin vitiligo / Child

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KUANG Fei-Mei, TANG Lan-Lan, ZHANG Hui, XIE Min, YANG Ming-Hua, YANG Liang-Chun, YU Yan, CAO Li-Zhi. Recurrent pulmonary infection and oral mucosal ulcer[J]. Chinese Journal of Contemporary Pediatrics. 2017, 19(4): 452-457 https://doi.org/10.7499/j.issn.1008-8830.2017.04.018

References

[1] 申昆玲, 江载芳, 徐保平. 支气管扩张和原发性纤毛运动障碍[M]//江载芳, 申昆玲, 沈颖. 诸福棠实用儿科学上册. 第8版. 北京:人民卫生出版社, 2015:1300-1302.
[2] Nicholson AG, Wotherspoon AC, Jones AL, et al. Pulmonary B-cell non-Hodgkin's lymphoma associated with autoimmune disorders:a clinic pathological review of six cases[J]. Eur Respir J, 1996, 9(10):2022-2025.
[3] 彭思达, 谭获, 黄振倩, 等. 肺黏膜相关淋巴组织样淋巴瘤7例并临床诊断与分析[J]. 中国肿瘤临床, 2014, 41(14):922-924.
[4] Imai H, Sunaga N, Kaira K, et al. Clinicopathological features of patients with bronchial-associated lymphoid tissue lymphoma[J]. Intern Med, 2009, 48(5):301-306.
[5] Savage SA. Dyskeratosis congenita[M]//Pagon RA, Adam MP, Ardinger HH, et al. Gene reviews^®.[Internet]. Seattle (WA):University of Washington, Seattle; 1993-2017.
[6] 周敦华. 先天性角化不良[M]//黄绍良, 陈纯, 周敦华. 实用小儿血液病学. 北京:人民卫生出版社, 2014:67-69.
[7] Verra F, Kouzan S, Saiag P, et al. Bronchoalveolar disease in dyskeratosis congenita[J]. Eur Respir J, 1992, 5(4):497-499.
[8] Samuel BP, Duffner UA, Abdel-Mageed AS, et al. Pulmonary arteriovenous malformations in dyskeratosis congenita[J]. Pediatr Dermatol, 2015, 32(4):e165-166.
[9] Goldfarb S, Sullivan KE, Jyonouchi S. A patient with X-linked dyskeratosis congenita presenting with bronchiolitis obliterans requiring lung transplantation and immunodeficiency[J]. Pediatr Pulmonol, 2013, 48(1):91-93.
[10] Reimann C, Kloeckener-Gruissem B, Niemeyer CM, et al. Late manifestation of dyskeratosis congenita presenting as chronic dermal ulcer in a 37-year-old man[J]. J Eur Acad Dermatol Venereol, 2008, 22(7):897-898.
[11] Iraji F, Jamshidi K, Pourazizi M, et al. Dyskeratosis congenita without oral involvement:A rare hereditary disease[J]. Oman Med J, 2015, 30(3):212-215.
[12] Fernández García MS, Teruya-Feldstein J.The diagnosis and treatment of dyskeratosis congenita:a review[J]. J Blood Med, 2014, 5:157-167.
[13] Vannie JB, Sarek G, Boulton SJ. RTEL1:functions of a diseaseassociated helicase[J]. Trends Cell Biol, 2014, 24(7):416-425.
[14] Kropski JA, Loyd JE. Telomeres revisited:RTEL1 variants in pulmonary fibrosis[J]. Eur Respir J, 2015, 46(2):312-314.
[15] Newton CA, Batra K, Torrealba J, et al. Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive[J]. Eur Respir J, 2016, 48(6):1710-1720.
[16] Stanley SE, Noth I, Armanios M. What the genetics "RTEL" ing us about telomeres and pulmonary fibrosis[J]. Am J Respir Crit Care Med, 2015, 191(6):608-610.
[17] Islam A, Rafiq S, Kirwan M, et al. Haematological recovery in dyskeratosis congenita patients treated with danazol[J]. Br J Haematol, 2013, 162(6):854-856.
[18] Barbaro P, Vedi A. Survival after hematopoietic stem cell transplant in patients with dyskeratosis congenita:Systematic review of the literature[J]. Biol Blood Marrow Transplant, 2016, 22(7):1152-1158.
[19] Giri N, Lee R, Faro A, et al. Lung transplantation for pulmonary fibrosis in dyskeratosis congenita:Case report and systematic literature review[J]. BMC Blood Disord., 2011, 11:3.