Genetic Study in a Case of Birt-Hogg-Dubé Syndrome

Park, Geon; Kim, Hae Ryun; Na, Chan Ho; Choi, Kyu Chul; Shin, Bong Seok

doi:10.5021/ad.2011.23.s2.s188

Cited by 5 publications

(3 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Seventeen (27%) patients had FFs or perifollicular fibromas (PFFs) [6, 7, 8, 9, 10], 46 (79%) had PCs [10, 11, 12, 13], 11 (18%) had RCs (aged 43–69 years, except for our cases; table 2) [8, 12, 14], 5 (8%) had PCs and FFs or PFFs [10], 5 (8%) had PCs and RC [12], and 2 (3%) had RCs and FFs or PFFs [8]. Only 2 cases had all three symptoms of PCs, RCs, and FFs or PFFs [3].…”

Section: Discussionmentioning

confidence: 99%

“…We summarized 62 Asian case reports of BHD, not including those by Kunogi et al [ 2 ] and Furuya and Nakatani [ 3 ] (table 1 ) [ 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 ]. Seventeen (27%) patients had FFs or perifollicular fibromas (PFFs) [ 6 , 7 , 8 , 9 , 10 ], 46 (79%) had PCs [ 10 , 11 , 12 , 13 ], 11 (18%) had RCs (aged 43–69 years, except for our cases; table 2 ) [ 8 , 12 , 14 ], 5 (8%) had PCs and FFs or PFFs [ 10 ], 5 (8%) had PCs and RC [ 12 ], and 2 (3%) had RCs and FFs or PFFs [ 8 ]. Only 2 cases had all three symptoms of PCs, RCs, and FFs or PFFs [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas

Murakami¹,

Wataya‐Kaneda²,

Tanaka³

et al. 2014

Case Rep Dermatol

View full text Add to dashboard Cite

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant inherited disease caused by a germline mutation in the folliculin gene mapped in the region of chromosome 17p11.2. BHD predisposes the patient to cutaneous fibrofolliculomas (FFs), pulmonary cysts (PCs), and renal cell carcinoma (RC). Here, we present two cases of BHD in Japanese patients. One patient was a 37-year-old female, and the other a 35-year-old male. Each of the patients was affected by all three symptoms of BHD. Both patients had unremarkable FFs, asymptomatic PCs, and asymptomatic RC. The presence of RC was revealed by abdominal ultrasonic examination. We also summarized the data from 62 Asian cases of BHD from the available literature and found that their FFs were unremarkable. In addition, the proportion of BHD patients with FF is smaller for Asian patients than it is for Caucasian patients. We also found that it is rare for BHD patients in Asia to show all three symptoms of BHD. Careful inspection of the skin as well as skin biopsies are important for the early detection of BHD cases in Asia.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas

Murakami¹,

Wataya‐Kaneda²,

Tanaka³

et al. 2014

Case Rep Dermatol

View full text Add to dashboard Cite

show abstract

“…We systematically reviewed previous studies in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, including six case reports [ 14 , 15 , 16 , 17 , 18 , 19 ] and four original articles [ 5 , 6 , 7 , 9 ] ( Figure 1 ). Almost all studies enrolled BHD subjects from specific institutions.…”

Section: Resultsmentioning

confidence: 99%

Outstanding Characteristics of Birt–Hogg–Dube Syndrome in Korea

et al. 2023

View full text Add to dashboard Cite

Birt–Hogg–Dube (BHD) is a rare genetic disorder characterized by multiple lung cysts, typical skin manifestations, and renal tumors. We prospectively enrolled thirty-one subjects from four South Korean institutions with typical lung cysts, and next-generation sequencing was conducted. We prospectively enrolled thirty-one subjects from four Korean institutions with typical lung cysts. Next-generation sequencing was performed to investigate mutations in the following genes: FLCN, TSC1, TSC2, CFTR, EFEMP2, ELN, FBLN5, LTBP4, and SERPINA1. BHD was diagnosed in 11 of the 31 enrolled subjects (35.5%; FLCN mutations). Notably, we identified three novel mutations (c.1098G>A, c.139G>T, and c.1335del) that have not been previously reported. In addition to FLCN mutations, we also observed mutations in CFTR (16.1%), LTBP4 (9.7%), TSC2 (9.7%), TSC1 (3.2%), ELN (3.2%), and SERPINA1 (3.2%). According to a systematic review of 45 South Korean patients with BHD, the prevalence of pneumothorax (72.7%) was greater in South Korea than in the rest of the world (50.9%; p = 0.003). The prevalence of skin manifestations (13.6%) and renal tumors (9.1%) was lower in Korea than in the rest of the world, at 47.9% [p < 0.001] and 22.5% [p = 0.027], respectively). This study confirmed a significant prediction model for BHD based on age, number of lung cysts (>40), and maximal diameter of lung cysts (>2 cm) regardless of skin manifestations and renal tumors. Importantly, three novel mutations (c.1098G>A, c.139G>T, and c.1335del) were identified. In conclusion, South Korean patients with BHD display characteristics that are different from those observed in patients of other nationalities. Detailed characterization of lung cysts is needed to define BHD, especially in South Korea, even if patients do not present with skin or renal lesions.

show abstract

Birt–Hogg–Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms

et al. 2017

View full text Add to dashboard Cite

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant genodermatosis with malignant potential characterized by cutaneous and extracutaneous stigmata. Aberrations in the folliculin (FLCN) gene, which is located on chromosome 17, have been discovered in individuals with this condition. Over 150 unique mutations have been identified in BHD. The skin lesions associated with this condition include fibrofolliculomas, trichodiscomas, perifollicular fibromas, and acrochordons. Extracutaneous features of the syndrome typically include the lung (spontaneous pneumothorax and cysts) and the kidney (neoplasms). The only malignancies associated with BHD are renal cancers; however, other tumors have been observed in individuals with BHD. In this article, the skin lesions associated with this condition are reviewed, lung and renal manifestations associated with this syndrome are presented, and malignancies occurring in these patients are summarized.

show abstract

Genetic Study in a Case of Birt-Hogg-Dubé Syndrome

Cited by 5 publications

References 22 publications

Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas

Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas

Outstanding Characteristics of Birt–Hogg–Dube Syndrome in Korea

Birt–Hogg–Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms

Contact Info

Product

Resources

About