Sources

Toro et al., 2008. 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, 45 (6), 321-31 [PMID: 18234728] [BHD Article Library]

Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Fibrofolliculomas and trichodiscomas

Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Rare skin symptoms of BHD

Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Banik R, & Lubach D (1987). Skin tags: localization and frequencies according to sex and age. Dermatologica, 174 (4), 180-3 [PMID: 3582706]

Lopez-Garcia DR, Teague D, Landis ET, & Sangueza OP (2014). Morphological diversity of trichodiscomas and fibrofolliculomas. The American Journal of dermatopathology, 36 (9), 734-40 [PMID: 24786577]

Webb et al., 1996. The cutaneous features of tuberous sclerosis: a population study. The British journal of dermatology, 135 (1), 1-5 [PMID: 8776349]

Vashi et al., 2012. Angiofibromas in multiple endocrine neoplasia type 1. Dermatology online journal, 18 (12) [PMID: 23286810]

Chung et al., 1996. Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome. International journal of dermatology, 35 (5), 365-7 [PMID: 8734663]

Toro et al., 1999. Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. Arch Dermatol, 135 (10), 1195-202 [PMID: 10522666] [BHD Article Library]

Misago et al., 2009. Fibrofolliculoma/trichodiscoma and fibrous papule (perifollicular fibroma/angiofibroma): a revaluation of the histopathological and immunohistochemical features. J Cut Pathol, 36 (9), 943-51 [PMID: 19674199]

Shvartsbeyn et al., 2012. Perifollicular fibroma in Birt-Hogg-Dubé syndrome: an association revisited. Journal of cutaneous pathology, 39 (7), 675-9 [PMID: 22725638]

Links:

Acrocordons (NHS website): http://www.nhs.uk/conditions/skin-tags/pages/introduction.aspx

Lipoma (NHS website): http://www.nhs.uk/conditions/lipoma/pages/introduction.aspx

Skin cancer (CRUK website): http://www.cancerresearchuk.org/cancer-info/cancerstats/types/skin/incidence/uk-skin-cancer-incidence-statistics

Diagnosis

Toro et al., 2014. Birt-Hogg-Dubé Syndrome [PMID: 20301695]

Surgical treatments

Farrant & Emerson, 2007. Letter: hyfrecation and curettage as a treatment for fibrofolliculomas in Birt-Hogg-Dube syndrome. Dermatologic surgery, 33 (10), 1287-8 [PMID: 17903168]

Pritchard et al., 2014. Successful treatment of facial papules with electrodessication in a patient with birt-hogg-dubé syndrome. Dermatology online journal, 20 (7) [PMID: 25046466] [BHD Article Library]

Links:

Cauterization (Wikipedia): http://en.wikipedia.org/wiki/Cauterization

Cold cautery (NHS website): http://www.nhs.uk/Conditions/Warts/Pages/Treatment.aspx

Ablation (Wikipedia): http://en.wikipedia.org/wiki/Radiofrequency_ablation

Cryoablation (Wikipedia): http://en.wikipedia.org/wiki/Cryoablation

Ablation and kidney cancer (Cryoablation.org website): http://cryoablation.eu/?cat=10

Laser treatment

Kahle et al., 2001. Multiple mantleomas in Birt-Hogg-Dubé syndrome: successful therapy with CO2 laser. Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 52 (1), 43-6 [PMID: 11220238] (Article in German)

Truchuelo et al., 2011. Multiple Facial Papules of Birt-Hogg-Dubé Syndrome Treated with a CO(2) Laser. Annals of dermatology, 23 (Suppl 2) [PMID: 22148071]

Gambichler et al., 2000.  Treatment of Birt-Hogg-Dubé syndrome with erbium:YAG laser. Journal of the American Academy of Dermatology, 43 (5 Pt 1), 856-8 [PMID: 11050594]

Jacob & Dover, 2001. Birt-Hogg-Dube syndrome: treatment of cutaneous manifestations with laser skin resurfacing. Archives of dermatology, 137 (1), 98-9 [PMID: 11176677]

Other causes of skin tags

Lee et al., 2006. Hereditary basaloid follicular hamartoma syndrome. Cutis, 78 (1), 42-6 [PMID: 16903320]

Eng et al., 2014. PTEN Hamartoma Tumor Syndrome (PHTS) [PMID: 20301661]

Pithukpakorn et al., 2006. Hereditary Leiomyomatosis and Renal Cell Cancer [PMID: 20301430]

Starink et al., 2012. Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus. Journal of the American Academy of Dermatology, 66 (2), 2590-9 [PMID: 21794948]

Northrup et al., 1999. Tuberous Sclerosis Complex [PMID: 20301399]

Links:

Brooke-Spiegler Syndrome (NCI website): http://www.cancer.gov/cancertopics/pdq/genetics/skin/HealthProfessional/page5

Rombo Syndrome (OMIM): http://omim.org/entry/180730

Publication date: December 2014
Review date: December 2017