Birt-Hogg-Dubé Syndrome, a Rare Case in Korea Confirmed by Genetic Analysis

Shin, Won Woong; Baek, Yoo Sang; Oh, Tae Seok; Heo, Young Mok; Son, Soo Bin; Oh, Cheol; Song, Hae Jun

doi:10.5021/ad.2011.23.s2.s193

Cited by 6 publications

(4 citation statements)

References 9 publications

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“…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%

“…Compared with the other cases, our patients were younger (37 and 35 years) and had quiet FFs on the face and scalp lesions that were unremarkable. Shin et al [ 10 ] described a Korean case with quiet FFs that appeared to be sebaceous hyperplasia. Kim et al [ 12 ] also described a Korean BHD patient with quiet papular lesions that were 0.5–5 mm in diameter, but they were not diagnosed by biopsy.…”

Section: Discussionmentioning

confidence: 99%

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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

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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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

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“…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

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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.

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Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene

et al. 2018

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BackgroundBirt-Hogg-Dubé syndrome is an autosomal dominant hereditary condition caused by mutations in the folliculin-encoding gene FLCN (NM_144997). It is associated with skin lesions such as fibrofolliculoma, acrochordon and trichodiscoma; pulmonary lesions including spontaneous pneumothorax and pulmonary cysts and renal cancer.MethodsGenomic DNA was extracted from peripheral venous blood samples of the propositi and their family members. Genetic analysis was performed by whole exome sequencing and Sanger sequencing aiming at corresponding exons in FLCN gene to explore the genetic mutations of these two families.ResultsIn this study, we performed genetic analysis by whole exome sequencing and Sanger sequencing aiming at corresponding exons in FLCN gene to explore the genetic mutations in two Chinese families. Patients from family 1 mostly suffered from pneumothorax and pulmonary cysts, several of whom also mentioned skin lesions or kidney lesions. While in family 2, only thoracic lesions were found in the patients, without any other clinical manifestations. Two FLCN mutations have been identified: One is an insertion mutation (c.1579_1580insA/p.R527Xfs on exon 14) previously reported in three Asian families (one mainland family and two Taiwanese families); while the other is a firstly reviewed mutation in Asian population (c.649C > T / p.Gln217X on exon 7) that ever been detected in a French family.ConclusionsOverall, The detection of these two mutations expands the spectrum of FLCN mutations and will provide insight into genetic diagnosis and counseling of Birt-Hogg-Dubé syndrome.

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Birt-Hogg-Dubé Syndrome, a Rare Case in Korea Confirmed by Genetic Analysis

Cited by 6 publications

References 9 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 in two Chinese families with mutations in the FLCN gene

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