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Open Access 01-12-2014 | Case report

Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients

Authors: Paul C Johannesma, Ben EEM van den Borne, Johannes JP Gille, Ad F Nagelkerke, JanHein TM van Waesberghe, Marinus A Paul, R Jeroen A van Moorselaar, Fred H Menko, Pieter E Postmus

Published in: BMC Pediatrics | Issue 1/2014

Abstract

Background

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominantly inherited disorder caused by germline mutations in the folliculin (FLCN) gene. Clinical manifestations of BHD include skin fibrofolliculomas, renal cell cancer, lung cysts and (recurrent) spontaneous pneumothorax (SP). All clinical manifestations usually present in adults > 20 years of age.

Case presentations

Two non-related patients with (recurrent) pneumothorax starting at age 14 accompanied by multiple basal lung cysts on thoracic CT underwent FLCN germline mutation analysis. A pathogenic FLCN mutation was found in both patients confirming suspected BHD. The family history was negative for spontaneous pneumothorax in both families.

Conclusion

Although childhood occurrence of SP in BHD is rare, these two cases illustrate that BHD should be considered as cause of SP in children.

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Birt AR, Hogg GR, Dubé WJ: Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol. 1977, 133 (12): 1974-1977.

Healthcare Cost and Utilization Project (HCUP): Kids’Inpatient Database (KID). 1997, Available at: http://www.hcup-us.ahrq.gov/kidoverview.jsp, , 2000, 2003, 2006

Dotson K, Johnson LH: Pediatric spontaneous pneumothorax. Pediatr Emerg Care. 2012, 28 (7): 715-721. 10.1097/PEC.0b013e31825d2dd5.CrossRefPubMed

Zganjer M, Cizmic A, Pajic A, Cigit I, Zganjer V: Primary spontaneous pneumothorax in pediatric patients: our 7-year expercience. J Laparoendosc Adv Surg Tech A. 2010, 20: 195-198. 10.1089/lap.2009.0070.CrossRefPubMed

Robinson PD, Cooper P, Ranganathan SC: Evidence-based management of pediatric primary spontaneous pneumothorax. Paediatr Respir Rev. 2009, 10 (3): 110-117. 10.1016/j.prrv.2008.12.003.CrossRefPubMed

Sahn SA, Heffner JE: Spontaneous pneumothorax. N Engl J Med. 2000, 342 (12): 868-874. 10.1056/NEJM200003233421207.CrossRefPubMed

Bense L, Lewander R, Eklund G, Hedenstierna G, Wiman LG: Non-smoking, non-alpha 1-antitypsin deficiency-induced emphysema in non-smokers with healed spontaneous pneumothorax, identified by computed tomography of the lungs. Chest. 1993, 103: 433-438. 10.1378/chest.103.2.433.CrossRefPubMed

Smit HJ, Wienk MA, Schreurs AJ, Schramel FM, Postmus PE: Do bullae indicate a predisposition to recurrent pneumothorax?. Br J Radiol. 2000, 73: 356-359. 10.1259/bjr.73.868.10844859.CrossRefPubMed

O’Lone E, Elphick HE, Robinson PJ: Sponatneous pneumothorax in children: when is invasive treatment indicated?. Pediatr Pulmonol. 2008, 43 (1): 41-46. 10.1002/ppul.20734.CrossRefPubMed

10.

Schramel FM, Postmus PE, Vanderschueren RG: Current aspects of spontaneous pneumothorax. Eur Respir J. 1997, 10: 1372-1379. 10.1183/09031936.97.10061372.CrossRefPubMed

11.

Wilcox DT, Glick PL, Karamanoukian HL, Allen JE, Azizkhan RG: Spontaneous pneumothorax: a single-institution: 12-year experience in patients under 16 years of age. J Pediatr Surg. 1995, 30: 1452-1454. 10.1016/0022-3468(95)90405-0.CrossRefPubMed

12.

Ouanes-Besbes L, Golli M, Knani J, Dachraoui F, Nciri N, El Atrous S, Gannouni A, Abroug F: Prediction of recurrent spontaneous pneumothorax: CT scan findings versus management features. Respir Med. 2007, 101: 230-236. 10.1016/j.rmed.2006.05.016.CrossRefPubMed

13.

Ren HZ, Zhu CC, Yang C, Chen SL, Xie J, Hou YY, Xu ZF, Wang DJ, Mu DK, Ma DH, Wang Y, Ye MH, Ye ZR, Chen BF, Wang CG, Lin J, Qiao D, Yi L: Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial associated isolated primary spontaneous pneumothorax. Clin Genet. 2008, 74: 178-183. 10.1111/j.1399-0004.2008.01030.x.CrossRefPubMed

14.

Johannesma PC, Menko FH, Reinhard R, van Waesberghe JHTM, van Moorselaar RJA, Starink TM, Postmus PE: Primary spontaneous pneumothorax: a pilot study on the frequency of FLCN mutation (Birt-Hogg-Dube Syndrome). Am J Respir Crit Care Med. 2014, 189: A6417-

15.

Bessis D, Giraud S, Richard S: A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome. Br J Dermatol. 2006, 155 (5): 1067-1069. 10.1111/j.1365-2133.2006.07449.x.CrossRefPubMed

16.

Gunji Y, Akiyoshi T, Sato T, Kurihara M, Tominaga S, Takahashi K, Seyama K: Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet. 2007, 44 (9): 588-593. 10.1136/jmg.2007.049874.CrossRefPubMedPubMedCentral

17.

Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, Leter EM, van Os TA, van Grieken NC, Jaspars EH, de Jong MM, Bongers EM, Johannesma PC, Postmus PE, van Moorselaar RJ, van Waesberghe JH, Starink TM, van Steensel MA, Gille JJ, Menko FH: Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer. 2011, 105 (12): 1912-1919. 10.1038/bjc.2011.463.CrossRefPubMedPubMedCentral

18.

Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino MJ, Pinto PA, Steinberg SM, Schmidt LS, Linehan WM: 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: 321-331. 10.1136/jmg.2007.054304.CrossRefPubMedPubMedCentral

19.

Schmidt LS: Birt-Hogg-Dubé syndrome: from gene discovery to molecularly targeted therapies. Fam Cancer. 2013, 12 (3): 357-364. 10.1007/s10689-012-9574-y.CrossRefPubMedPubMedCentral

20.

Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER, European BHD Consortium: Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009, 10 (12): 1199-1206. 10.1016/S1470-2045(09)70188-3.CrossRefPubMed

21.

Clarke BE: Cystic lung disease. J Clin Pathol. 2013, 66 (10): 904-908. 10.1136/jclinpath-2012-201297.CrossRefPubMed

22.

Johannesma PC, Thunnissen E, Postmus PE: Lung cysts as indicator for Birt-Hogg-Dubé. Lung. 2014, 192 (1): 215-216. 10.1007/s00408-013-9522-0.CrossRefPubMed

23.

Tobino K, Gunji Y, Kurihara M, Kunogi M, Koike K, Tomiyama N, Johkoh T, Kodama Y, Iwakami S, Kikkawa M, Takahashi K, Seyama K: Characteristics of pulmonary cysts in Birt-Hogg-Dubé syndrome: thin-section CT findings of the chest in 12 patients. Eur J Radiol. 2011, 77: 403-409. 10.1016/j.ejrad.2009.09.004.CrossRefPubMed

24.

Kumasaka T, Hayashi T, Mitani K, Kataoka H, Kikkawa M, Tobino K, Kobayashi E, Gunji Y, Kunogi M, Kurihara M, Seyama : Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients. Histopathology. 2014, Jan 7 (in press)

25.

MacDuff A, Arnold A, Harvey J, BTS Pleural Disease Guideline Group: Management of spontaneous pneumothorax: British Thoracic Society pleural disease guideline 2010. Thorax. 2010, 65: ii18-ii31.CrossRefPubMed

The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2431/14/171/prepub

Title: Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients
Authors: Paul C Johannesma
Ben EEM van den Borne
Johannes JP Gille
Ad F Nagelkerke
JanHein TM van Waesberghe
Marinus A Paul
R Jeroen A van Moorselaar
Fred H Menko
Pieter E Postmus
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: BMC Pediatrics / Issue 1/2014
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/1471-2431-14-171

At a glance: The STEP trials

Springer Medicine

Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients

Abstract

Background

Case presentations

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Case presentations

Conclusion

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