Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2020 Mar 14;21(1):52.
doi: 10.1186/s12881-020-0991-8.

Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature

Flávia Balsamo  1 , Pedro Augusto Soffner Cardoso  1 , Sergio Aparecido do Amaral Junior  1 , Therésè Rachell Theodoro  2 , Flavia de Sousa Gehrke  1 , Maria Aparecida da Silva Pinhal  2 , Bianca Bianco  3 , Jaques Waisberg  1
Affiliations
Review

Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature

Flávia Balsamo et al. BMC Med Genet. .

Abstract

Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal tumors that are usually hybrid oncocytic or multifocal chromophobe renal cell carcinoma. The diagnosis is confirmed by the presence of a pathogenic variant in the tumor suppressor folliculin (FLCN) gene mapped at 17p11.2. Although the dermatological lesions typical of BHDS are benign and only cause aesthetic concerns, and the pulmonary manifestations are controllable, the greater tendency of patients with this syndrome to present benign or malignant renal tumors, often bilateral and multifocal, makes the diagnosis of this syndrome important for the prognosis of the patients. The objective was to report the case of a patient with BHDS, without pulmonary manifestations and with hyperplastic polyposis of the gastrointestinal tract, and to perform a literature review.

Case presentation: A 60-year-old man complained of abdominal pain and diarrhoea for 2 months. Physical examination was normal except for the presence of normochromic papules in the frontal region of the face associated with hyperkeratotic and hyperchromic papules in the dorsal region. The excisional biopsies of the skin lesions indicated trichodiscomas. Esophagogastroduodenoscopy, enteroscopy, and colonoscopy showed the presence of hyperplastic polyps in the stomach, duodenum, jejunum, colon, and rectum. Computed tomography (CT) and magnetic resonance imaging (MRI) of the abdomen revealed multiple expansive solid lesions in both kidneys, with necrotic and calcified areas. Renal magnetic resonance angiography also showed a solid lesion in the right kidney measuring 5 cm in diameter and another solid lesion in the left kidney measuring 8 cm in diameter, both suggestive of renal angiomyolipoma. CT scans of the skull, chest, and temporal bones were normal. The genetic study revealed the presence of a variant of FLCN in the intron 13.

Conclusions: To the best of our knowledge, this is the first reported case of BHDS with the simultaneous finding of gastrointestinal hyperplastic polyposis, which may represent a possible phenotypic expression of this syndrome that has not yet been described.

Keywords: Birt-Hogg-Dubé syndrome; FLCN gene; Pneumothorax; Polyps; Skin neoplasms.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Fibroepithelial polyp (skin fibroma). a Histological skin sections exhibit a markedly rectified epidermis. In the dermis, mesenchymal cellular proliferation can be observed, consisting of spindle cells with the cytoplasm sometimes indistinct, sometimes spiculated in appearance, containing spindle nuclei without atypia (HE 200x). b The cells are arranged so that “swirls” are sometimes formed among the dense collagenized stroma (HE 400x)
Fig. 2
Fig. 2
Photomicrograph of a hyperplastic polyp of the gastric mucosa showing foveolar hyperplasia, without cytoarchitectural atypia (HE 200x)
Fig. 3
Fig. 3
Magnetic resonance imaging (MRI) of the abdomen. a T1-weighted image with fat suppression after venous administration of the contrast medium. Several expansive formations can be observed in both kidneys with less intense enhancement than that of the adjacent renal parenchyma (white arrows). b T2-weighted image of the sagittal section of the right kidney. The black arrows show multiple expansive heterogeneous signal formations, with hyposignal and hypersignal areas in T2-weighted sequences and a 10-cm lesion in the lower pole of the right kidney
Fig. 4
Fig. 4
The schematic diagram shows the variant involving FLCN intron 13 corresponding to an exchange of timine (T) for guanine (G) at nucleotide 27,218 (NG_008001.2:g.27218 T > G)
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Ponti G, Pellacani G, Seidenari S, Pollio A, Muscatello U, Tomasi A. Cancer associated genodermatoses: skin neoplasms as clues to hereditary tumor syndromes. Crit Rev Oncol Hematol. 2013;85:239–256. doi: 10.1016/j.critrevonc.2012.07.001. - DOI - PubMed
    1. Stamatakis L, Metwalli AR, Middelton LA, Linehan M. Diagnosis and management of BHD-associated kidney cancer. Familial Cancer. 2013;12:397–402. doi: 10.1007/s10689-013-9657-4. - DOI - PMC - PubMed
    1. 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. doi: 10.1136/jmg.2007.054304. - DOI - PMC - PubMed
    1. Sasso AAD, Belém LC, Zanetti G, Souza CA, Escuissato DL, Irion KL, Guimarães MD, Marchiori E. Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement. Resp Med. 2015;109:289–296. doi: 10.1016/j.rmed.2014.11.008. - DOI - PubMed
    1. Nishii T, Tanabe M, Tanaka R, Matsuzawa T, Okudela K, Nozawa A, Nakatani Y, Furuya M. Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of Birt-Hogg-Dubé syndrome. Pathol Int. 2013;63:45–55. doi: 10.1111/pin.12028. - DOI - PubMed

MeSH terms

LinkOut - more resources