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ISSN 0210-5187 (Electronic)

2017, Number 1

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Med Cutan Iber Lat Am 2017; 45 (1)

Birt-Hogg-Dubé syndrome

Samayoa MA, del Pilar GHM

Language: Spanish
References: 14
Page: 68-71
PDF size: 330.71 Kb.


ABSTRACT

Fifty-four-year-old male with multiple millimetric neoplasms, whitish, on the face and neck, asymptomatic. He had a history of two spontaneous pneumothorax, with no apparent cause. The biopsy confirms the presence of distorted hair follicles wrapped by a basophilic lax mucoid stroma, identified as fibrofolliculoma. Based on the history of spontaneous pneumothorax, biopsy of skin lesions and genetic studies, the diagnosis of Birt-Hogg-Dubé was confirmed.


REFERENCES

  1. Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol. 1977; 113: 1674-1677.

  2. Starink TM, Houweling AC, Van Doorn MB, Leter EM, Jaspars EH, Van Moorselaar JA et al. Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus. JAAD. 2012; 66 (2): 259.e1-9.

  3. Ferrari B, Spiner R, Poppi Griselda, Schroh Toberto, Stefanazzi M, Marini M et al. Síndrome de Birt-Hogg-Dubé. Dermatol Argent. 2012; 18 (2): 36-41.

  4. Warren MB, Torres-Cabala CA, Turner ML, Merino MJ, Matrosova VY, Nickerson ML et al. Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues. Mod Pathol. 2004; 17: 998-1011.

  5. Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C et 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: 321-331.

  6. Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L et al. Risk of renal and colonic neoplasm and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol. Biomarkers Prev. 2002; 11: 393-400.

  7. Schulz T, Hartschuh W. Birt-Hogg-Dubé-Syndrome and Hornstein-Knickenberg-Syndrome are the same. Different sectioning technique as the cause of different histology. J Cutan Pathol. 1999; 26: 55-61.

  8. Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A et al. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1 and AMPk, and is involved in AMPk and mTOR signalling. Proc Natl Acad Sci USA. 2006; 103: 15552-15557.

  9. Gambichler T, Wolter M, Altmeyer P, Hoffman K. Treatment of Birt-Hogge-Dubé syndrome with erbium: YAG laser. J Am Acad Dermatol. 2000; 43 (5): 856-858.

  10. Misago N, Joh K, Yatsuki H, Soejima H, Narisawa Y. A BHD germline mutation identified in an Asian family with Birt-Hogg-Dubé syndrome. Acta Derm. 2007; 88: 423-425.

  11. Toro JR. Birt-Hogg-Dubé syndrome. Feb 27, 2006. [Updated Aug. 7, 2014]. In: Pagon RA, Adam MP, Ardinger HH et al, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.

  12. Fuertes I, Mascaró-Galy JM, Ferrando J. Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C>T;p.R477X mutation in exon 12 of the folliculin gene. Actas Dermosifiliogr. 2009; 100: 227-230.

  13. Menko FH, Van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S et al. European BHD Consortium. Birt-Hogg-Dubé Syndrome: diagnosis and management. Lancet Oncol. 2009; 10: 1199-1206.

  14. Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM et al. Renal tumors in the Birt-Hogg-Dube syndrome. Am J Surg Pathol. 2002; 26: 1542-1552.




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