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      Correction to: Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China

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          Abstract

          Correction to: Orphanet Journal of Rare Diseases (2022) 17:203 https://doi.org/10.1186/s13023-022-02362-1 The authors of the original article [1] would like to clarify that the official name and address for affiliation 1 is the following: Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, 230001, China. This is reflected in the 'Author details' section of this Correction. The original article has been updated accordingly.

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          Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China

          Background Diagnosis of rare diseases remains a challenge in China. We describe our experience with Birt-Hogg-Dubé syndrome (BHDS) encountered at a Rare Lung Disease Clinic recently established in China. Methods After the first patient with BHDS was recognized in 2017, a Rare Lung Disease Clinic with a multidisciplinary team of specialists was established. We retrospectively analyzed the data of consecutive patients with BHDS encountered from inception to December 2021. Results There were 1, 1, 15, 12 and 21 cases with BHDS diagnosed from year 2017 to 2021, respectively. All 50 patients (34 women) were of Han race with a mean age of 47.4 years. The common manifestations were pulmonary cysts (98%), pneumothorax (54%) and skin lesions (68%). Renal cancer was detected in two patients and renal angiomyolipoma in four other patients. The main presentations leading to diagnosis were pneumothorax (42%), family screening (36%), and lung cysts identified on radiologic imaging (20%). The average delay in diagnosis was 8.3 years, and 4.7 years in patients with only pulmonary cysts. The most frequent pathogenic variant was c.1285del/dup on exon 11 (23%) among 44 patients confirmed by genetic testing. Renal cancer has not been found on follow-up surveillance thus far. Conclusions Increasing number of patients with BHDS are being recognized in China, facilitated by establishment of a Rare Lung Disease Clinic. Pulmonary cysts and pneumothorax were commonly encountered features, but skin lesions appeared to be more prevalent in Chinese subjects than previously reported in other Asian countries. Supplementary Information The online version contains supplementary material available at 10.1186/s13023-022-02362-1.
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            Author and article information

            Contributors
            hu.xiaowen@hotmail.com
            Journal
            Orphanet J Rare Dis
            Orphanet J Rare Dis
            Orphanet Journal of Rare Diseases
            BioMed Central (London )
            1750-1172
            11 August 2022
            11 August 2022
            2022
            : 17
            : 312
            Affiliations
            [1 ]GRID grid.59053.3a, ISNI 0000000121679639, Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, , University of Science and Technology of China, ; Hefei, Anhui 230001 China
            [2 ]GRID grid.443626.1, ISNI 0000 0004 1798 4069, WanNan Medical College, ; Wuhu, Anhui China
            [3 ]GRID grid.59053.3a, ISNI 0000000121679639, Division of Life Sciences and Medicine, Department of Dermatology, The First Affiliated Hospital of USTC, , University of Science and Technology of China, ; Hefei, Anhui China
            [4 ]GRID grid.252957.e, ISNI 0000 0001 1484 5512, BengBu Medical College, ; Bengbu, Anhui China
            [5 ]GRID grid.59053.3a, ISNI 0000000121679639, Division of Life Sciences and Medicine, Department of Thoracic Surgery, The First Affiliated Hospital of USTC, , University of Science and Technology of China, ; Hefei, Anhui China
            [6 ]GRID grid.59053.3a, ISNI 0000000121679639, Division of Life Sciences and Medicine, Department of Pathology, The First Affiliated Hospital of USTC, , University of Science and Technology of China, ; Hefei, Anhui China
            [7 ]GRID grid.59053.3a, ISNI 0000000121679639, Division of Life Sciences and Medicine, Department of Urology, The First Affiliated Hospital of USTC, , University of Science and Technology of China, ; Hefei, Anhui China
            [8 ]GRID grid.59053.3a, ISNI 0000000121679639, Division of Life Sciences and Medicine, Department of Radiology, The First Affiliated Hospital of USTC, , University of Science and Technology of China, ; Hefei, Anhui China
            [9 ]GRID grid.186775.a, ISNI 0000 0000 9490 772X, School of Basic Medicine, , Anhui Medical University, ; Hefei, Anhui China
            [10 ]GRID grid.41156.37, ISNI 0000 0001 2314 964X, Jiangsu Key Laboratory of Molecular Medicine, School of Medicine, , Nanjing University, ; Nanjing, Jiangsu China
            [11 ]GRID grid.66875.3a, ISNI 0000 0004 0459 167X, Division of Pulmonary and Critical Care Medicine, , Mayo Clinic, ; Rochester, MN USA
            Author information
            http://orcid.org/0000-0002-3727-6049
            Article
            2438
            10.1186/s13023-022-02438-y
            9367028
            35953843
            b803935e-8510-40db-99ce-d1c3978941b6
            © The Author(s) 2022

            Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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            Infectious disease & Microbiology
            Infectious disease & Microbiology

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