Coexistent Sjogren's syndrome and Birt-Hogg-Dube´ syndrome: a case report.
Birt-Hogg-Dubé syndrome
DCLD
Diagnostic algorithm
FLCN
Gene
Sjogren’s syndrome
Journal
BMC pulmonary medicine
ISSN: 1471-2466
Titre abrégé: BMC Pulm Med
Pays: England
ID NLM: 100968563
Informations de publication
Date de publication:
22 Nov 2023
22 Nov 2023
Historique:
received:
09
05
2023
accepted:
26
09
2023
medline:
24
11
2023
pubmed:
23
11
2023
entrez:
22
11
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37993820
doi: 10.1186/s12890-023-02680-5
pii: 10.1186/s12890-023-02680-5
pmc: PMC10664354
doi:
Types de publication
Case Reports
Review
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
460Subventions
Organisme : National Natural Science Foundation of China
ID : 81900002 to TG, 82070003 to HL
Organisme : National Natural Science Foundation of China
ID : 81900002 to TG, 82070003 to HL
Informations de copyright
© 2023. The Author(s).
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