Abstract
Birt-Hogg-Dubé syndrome is an uncommon autosomal dominant systemic disorder with cutaneous
findings notable for fibrofolliculomas or trichodiscomas on the scalp, face, neck,
and trunk. These cutaneous signs are associated with bilateral renal cell carcinoma,
benign renal cysts, pulmonary cysts, and spontaneous pneumothorax. Given its autosomal
dominant inheritance pattern, the successful diagnosis of Birt-Hogg-Dubé syndrome
(BHDS) may elucidate a diagnosis in family members. BHDS results from a mutation in
the FLCN gene encoding the folliculin protein, a transcriptional regulator of the mammalian
target of rapamycin signaling pathway. Like tuberous sclerosis, BHDS's clinical features
may subside with the use of oral rapamycin for mammalian target of rapamycin inhibition,
a theoretical concept meriting exploration. Although its prevalence in the general
population has been estimated at 2 cases per million, BHDS has been detected in a
few patients from the nearby Portuguese-lineage quarter of the city of Newark, a disproportionate
prevalence possibly explained by the founder effect.
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References
- Hornstein-Knickenberg syndrome vs. Birt-Hogg-Dubé syndrome: a critical review of an unjustified designation.J Eur Acad Dermatol Venereol. 2020; 34: 885-887
- Perifollicular fibromatosis cutis with polyps of the colon—a cutaneo-intestinal syndrome sui generis.Arch Dermatol Res (1975). 1975; 253: 161-175
- Birt-Hogg-Dube syndrome: clinicopathological features of the lung.J Clin Pathol. 2013; 66: 178-186
- Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons.Arch Dermatol. 1977; 113: 1674-1677
- Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration.Am J Med Genet A. 2012; 158A: 1247-1251
- 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
- Comedonal and cystic fibrofolliculomas in Birt-Hogg-Dube syndrome.JAMA Dermatol. 2015; 151: 770-774
- Birt-Hogg-Dubé syndrome initially diagnosed as tuberous sclerosis complex.JAAD Case Rep. 2019; 5: 368-371
- Birt-Hogg-Dubé syndrome.Dermatol Rev. 2021; 108: 285-289
- Pulmonary manifestations of Birt-Hogg-Dubé syndrome.Fam Cancer. 2013; 12: 387-396
- Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.J Med Genet. 2010; 47: 281-287
- Birt-Hogg-Dubé syndrome: diagnosis and management.Lancet Oncol. 2009; 10: 1199-1206
- Muir-Torre syndrome (MTS): an update and approach to diagnosis and management.J Am Acad Dermatol. 2016; 74: 558-566
- Birt-Hogg-Dubé syndrome: a case report and a review of the literature.Eur Clin Respir J. 2017; 41292378
- Birt-Hogg-Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation.BMC Pulm Med. 2017; 17: 43
- Familial pneumothorax: towards precision medicine.Thorax. 2018; 73: 270-276
- Pneumothorax and the biology of Birt-Hogg-Dubé syndrome.Thorax. 2020; 75: 442-443
- Fibrofolliculomas, tricodiscomas and acrochordons (Birt-Hogg-Dubé) associated with intestinal polyposis.Clin Exp Dermatol. 1989; 14: 72-74
- Association between Birt Hogg Dube syndrome and cancer predisposition.Anticancer Res. 2010; 30: 751-757
- Colorectal cancer risk in families with Birt-Hogg-Dubé syndrome increased.Eur J Cancer. 2021; 151: 168-174
- Birt-Hogg-Dube syndrome with a novel mutation in the FLCN gene.Genet Test Mol Biomarkers. 2017; 21: 632-634
- Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families.Br J Dermatol. 2010; 162: 527-537
- Neoplasms With Follicular Differentiation.2nd ed. Ardo Scribendi Publishers, New York, NY2000
- Fibrofolliculoma/trichodiscoma and fibrous papule (perifollicular fibroma/angiofibroma): a revaluation of the histopathological and immunohistochemical features.J Cutan Pathol. 2009; 36: 943-951
- Prevalence of Birt-Hogg-Dubé syndrome determined through epidemiological data on spontaneous pneumothorax and Bayes theorem.Front Med (Lausanne). 2021; 8631168
- Novel folliculin gene mutations in Polish patients with Birt–Hogg–Dubé syndrome.Orphanet J Rare Dis. 2021; 16: 302
- Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families.Orphanet J Rare Dis. 2021; 16: 223
- Birt-Hogg-Dubé syndrome.Eur Respir Rev. 2020; 29200042
- Laser-assisted delivery of topical rapamycin: mTOR inhibition for Birt-Hogg-Dube syndrome.Dermatol Surg. 2019; 45: 1713-1715
- A unique presentation of Birt-Hogg-Dube syndrome.Cureus. 2021; 13: e17227
- Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation.PLoS One. 2018; 13e0197973
- Topical use of mammalian target of rapamycin (mTOR) inhibitors in tuberous sclerosis complex—a comprehensive review of the literature.Pediatr Neurol. 2016; 61: 21-27
- Sirolimus (rapamycin): from the soil of Easter Island to a bright future.J Am Acad Dermatol. 2007; 57: 1046-1050
- Birt-Hogg-Dubé syndrome: case report and brief review of the literature.Radiol Case Rep. 2021; 17: 250-253
- Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial.PloS One. 2014; 9: e99071
- Heimlich valve and pneumothorax.Ann Transl Med. 2015; 3: 54
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Published online: July 27, 2022
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© 2022 Published by Elsevier Inc.
