Coexistent Sjogren's syndrome and Birt-Hogg-Dube´ syndrome: a case report

Yongkang Lin; Ting Guo; Cheng Lei; Binyi Yang; Danhui Yang; Hong Luo; Hong Peng

doi:10.1186/s12890-023-02680-5

Coexistent Sjogren's syndrome and Birt-Hogg-Dube´ syndrome: a case report

BMC Pulm Med. 2023 Nov 22;23(1):460. doi: 10.1186/s12890-023-02680-5.

Authors

Yongkang Lin^#^{1

2

3}, Ting Guo^#^{1

2

3}, Cheng Lei^{1

2

3}, Binyi Yang^{1

2

3}, Danhui Yang^{1

2

3}, Hong Luo^{4

5

6}, Hong Peng^{7

8

9}

Affiliations

¹ Department of Pulmonary and Critical Care Medicine, the Second Xiangya Hospital, Central South University, 139 Renmin Middle Road, Furong District, Changsha, Hunan, 410011, China.
² Research Unit of Respiratory Disease, Central South University, Changsha, Hunan, 410011, China.
³ Hunan Diagnosis and Treatment Center of Respiratory Disease, Changsha, Hunan, 410011, China.
⁴ Department of Pulmonary and Critical Care Medicine, the Second Xiangya Hospital, Central South University, 139 Renmin Middle Road, Furong District, Changsha, Hunan, 410011, China. luohonghuxi@csu.edu.cn.
⁵ Research Unit of Respiratory Disease, Central South University, Changsha, Hunan, 410011, China. luohonghuxi@csu.edu.cn.
⁶ Hunan Diagnosis and Treatment Center of Respiratory Disease, Changsha, Hunan, 410011, China. luohonghuxi@csu.edu.cn.
⁷ Department of Pulmonary and Critical Care Medicine, the Second Xiangya Hospital, Central South University, 139 Renmin Middle Road, Furong District, Changsha, Hunan, 410011, China. Penghong66@csu.edu.cn.
⁸ Research Unit of Respiratory Disease, Central South University, Changsha, Hunan, 410011, China. Penghong66@csu.edu.cn.
⁹ Hunan Diagnosis and Treatment Center of Respiratory Disease, Changsha, Hunan, 410011, China. Penghong66@csu.edu.cn.

^# Contributed equally.

Abstract

We report a rare case of Sjogren's syndrome complicated with Birt-Hogg-Dubé syndrome (BHDS) not previously mentioned in the literature. Further, there is insufficient evidence linking the two diseases. Here, we review existing diagnostic algorithms for diagnosing diffuse cystic lung disease and provide new insights. The patient initially complained of thirst and dry eyes for ten years, and gradually developed shortness of breath. After admission, physical examination showed five missing teeth, decreased respiratory sounds in both lower lungs, and Velcro rales. Computed tomography showed multiple thin-walled cystic lesions in both lungs. Initial xerophthalmia and labial gland biopsy seemed to reveal a pulmonary cystic change associated with Sjogren's syndrome. Before discharge, a rash suspected to indicate a fibrofollicular tumor in the neck was observed, and then FLCN variant has been found. The challenges how to clarify the diagnosis of DCLD causes are discussed.

Keywords: Birt-Hogg-Dubé syndrome; DCLD; Diagnostic algorithm; FLCN; Gene; Sjogren’s syndrome.

Publication types

Case Reports
Review

MeSH terms

Birt-Hogg-Dube Syndrome* / complications
Birt-Hogg-Dube Syndrome* / diagnosis
Birt-Hogg-Dube Syndrome* / pathology
Cysts* / pathology
Humans
Lung / pathology
Lung Diseases* / diagnosis
Sjogren's Syndrome* / complications
Sjogren's Syndrome* / diagnosis
Sjogren's Syndrome* / pathology

Abstract

Publication types

MeSH terms

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