Clinical and Genetic Comparison of Birt-Hogg-Dubé Syndrome (Hornstein-Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases

Overview

Journal Int J Gen Med

Publisher Dove Medical Press

Specialty General Medicine

Date 2022 May 31

PMID 35637701

Authors

Wangji Zhou

Keqiang Liu

Kai-Feng Xu

Yaping Liu

Xinlun Tian

Affiliations

Soon will be listed here.

Abstract

Background: Birt-Hogg-Dubé syndrome (BHD), also named Hornstein-Knickenberg syndrome, is a rare autosomal dominant disease characterized by lung cysts, recurrent pneumothoraxes, renal cell carcinoma and skin fibrofolliculomas.

Purpose: This study summarizes the clinical and genetic information of Chinese BHD patients from all available reported cases and explores the relationship between the clinical and genetic spectrum in the hope of improving the prognosis of Chinese BHD patients.

Methods: Relative studies were collected by searching PubMed, Cochrane Library, Embase, OVID medicine, SinoMed, Web of Science, China National Knowledge Infrastructure, Wanfang Data and China Hospital Knowledge Database from January 1, 1977 to December 31, 2021. The search strategy included the following term keys: (Birt-Hogg-Dubé syndrome OR Hornstein-Kinckenberg syndrome OR familial pulmonary cysts OR familial spontaneous pneumothorax OR fibrofolliculomas OR trichodiscomas OR inherited renal cancer syndromes OR ) AND (Chinese OR China).

Results: In total, 287 Chinese patients from 143 families described in 31 references were included in this article. Chinese BHD patients tended to present more pulmonary symptoms but fewer skin lesions and renal malignancies, which appeared to be atypical when compared with Caucasian patients. The mutation spectrum among Chinese BHD patients was established with the mutational hot spot c.1285depC/delC as the most frequent mutation. In addition, this mutation spectrum also showed some differences from other races, with a relatively frequent large deletion c.872-429_1740+1763del (exon 9-14 deletion) reported only in Chinese individuals but no observation of the two mutational hot spots found in Japanese individuals. We also attempted to establish potential pheno-genotype correlations in Chinese BHD patients, but the results were negative.

Conclusion: To improve the prognosis of BHD patients, physicians need to increase their awareness of BHD by focusing on the family history of pneumothorax as well as skin lesions in patients with lung cysts and promptly advising patients on genetic sequencing.

Citing Articles

Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region.

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A novel variant in the FLCN gene in a Chinese family with Birt-Hogg-Dubé syndrome.

Miao H, Zhou Y, Ge S, Gu Y, Qu L, Zhou W Mol Genet Genomic Med. 2024; 12(7):e2488.

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Birt-Hogg-Dubé syndrome presenting with bilateral pneumothorax, skin, kidney, liver, and brain lesions.

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A Possible Association of Salivary Gland Tumors and Oral Lesions with Birt-Hogg-Dube Syndrome: A Systematic Review.

Peraza Labrador A, Umorin M, Shrestha M, Abad Villacrez C, Wright J Head Neck Pathol. 2024; 18(1):52.

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Familial pulmonary cysts: A clue to diagnose Birt-Hogg-Dubé syndrome: A case report and literature review.

Miao J, Gao Q, Wang Z, Hou G Respirol Case Rep. 2024; 12(3):e01319.

PMID: 38455502 PMC: 10918712. DOI: 10.1002/rcr2.1319.

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