[Dyskeratosis congenita combined with myeloproliferative disorder and trilineage cytopenia].

Abstract

Objective: To better understand dyskeratosis congenita (DC) with pulmonary fibrosis (PF). Methods: The clinical data and treatment process of a patient diagnosed as dyskeratosis congenita with pulmonary fibrosis admitted to the Department of Pulmonary and Critical Care Medicine,Nanjing Drum Tower Hospital in November 2023 were reported, and relevant literature was reviewed. With the keywords "dyskeratosis congenita", "pulmonary fibrosis", or "dyskeratosis congenita", "interstitial lung disease", as search terms, and the search time before October 1st, 2024 for Wanfang Data, China National Knowledge Infrastructure (CNKI) and PubMed. 21 articles with relatively detailed clinical data, including medical history, physical examination, ancillary tests, and treatment process, were included. Combined with the information from the patient reported in this article, data from 24 patients were collected. Results: A 25-year-old man was admitted complaining of "coughing and wheezing for more than 3 months, worsening for 1 week". The main clinical manifestations included cutaneous pigmentation, nail dystrophy, pancytopenia and interstitial pneumonia. Genetic testing by Sanger sequencing revealed a heterozygous mutation (c.844C>T) in the TINF2 gene. The diagnosis of DC was made on the basis of clinical presentation and genetic testing. The 24 patients included 20 males and 4 females who ranged in age from 9 to 52, with a median age of 35 years when PF was diagnosed. Fourteen patients (58.3%) exhibited the classic triad of typical reticular pigmentation, nail dystrophy, and mucosal hyperplastic leukoplakia, while 7 patients (29.2%) presented with one or two of these features, and 3 patients (12.5%) showed no typical triad manifestations. One patient had no blood cell information available, while 15 patients (65.2%) had pancytopenia, 5 patients (21.7%) had one or two lineages of cytopenia, and 3 patients (13.1%) showed no blood cell abnormalities. Eight patients underwent measurement of peripheral blood telomere length, which was found to be shortened in all patients compared to age-matched controls. Fourteen patients were tested for genes related to telomere maintenance, and various mutations were identified at different loci. Conclusions: Although dyskeratosis congenita is a rare disease, it can be indicated by simple examination. When patients, especially younger ones, present with typical skin changes, nail dysplasia and bone marrow failure due to interstitial pneumonia, respiratory specialists should maintain a high index of suspicion for this condition and perform relevant genetic testing early to confirm the diagnosis.