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Case Reports
. 2022 May 23;2022(5):omac054.
doi: 10.1093/omcr/omac054. eCollection 2022 May.

A case of recurrent pneumothorax and skin lesions diagnosed with Birt-Hogg-Dubé

Ali Hossein Samadi Takaldani  1 , Mohammad Negaresh  2 , Solmaz Jalalzadeh  2 , Leila Lotfi  2 , Hassan Ghobadi  1
Affiliations
Case Reports

A case of recurrent pneumothorax and skin lesions diagnosed with Birt-Hogg-Dubé

Ali Hossein Samadi Takaldani et al. Oxf Med Case Reports. .

Abstract

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disease that is manifested as benign cutaneous tumors, multiple lung parenchymal cysts and an increased risk of renal cancer. Its symptoms usually do not appear until adulthood. We report a patient who was admitted with recurrent pneumothorax. Discovering typical cutaneous lesions accompanied with a history of the same condition in his son, BHD syndrome was diagnosed.

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Figures

Figure 1
Figure 1
Patient’s skin lesions. (A) fibrofolliculoma and trichodiscom (yellow arrow) (B) Acrochordon (red arrows).
Figure 2
Figure 2
Patients chest CT scan: (A) right side pneumothorax. (B, C) multiple parenchymal cysts (blue arrow) and, sub-pleural fibrosis at the inferior lobes of both lungs (yellow arrow).
See this image and copyright information in PMC

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References

    1. Lim DH, Rehal PK, Nahorski MS, Macdonald F, Claessens T, Van Geel Met al. . A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. Hum Mutat 2010;31:E1043–51. - PubMed
    1. Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke Cet al. . BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet 2008;45:321–31. - PMC - PubMed
    1. Daccord C, Good J-M, Morren M-A, Bonny O, Hohl D, Lazor R. Birt–Hogg–Dubé syndrome. Eur Respir Rev 2020;29:200042. 10.1183/16000617.0042-2020. - DOI - PMC - PubMed
    1. Tong Y, Schneider JA, Coda AB, Hata TR, Cohen PR. Birt-Hogg-Dubé syndrome: a review of dermatological manifestations and other symptoms. Am J Clin Dermatol 2018;19:87–101. - PubMed
    1. Tobino K, Gunji Y, Kurihara M, Kunogi M, Koike K, Tomiyama Net al. . Characteristics of pulmonary cysts in Birt–Hogg–Dube syndrome: thin-section CT findings of the chest in 12 patients. Eur J Radiol 2011;77:403–9. - PubMed

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