Multiple facial angiofibromas: A cutaneous manifestation of Birt-Hogg-Dubé syndrome

Schaffer, Julie V.; Gohara, Mona; McNiff, Jennifer M.; Aasi, Sumaira Z.; Dvoretzky, Israel

doi:10.1016/j.jaad.2004.11.021

Cited by 77 publications

(42 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Therefore, it is not surprising that angiofibromas have also been described in BHD. 16,22,23 BHD has to be considered, along with TSC and multiple endocrine neoplasia type 1, in the differential diagnosis of multiple facial angiofibroma, particularly when onset occurs in adulthood. 23 The facial keratoses found in Cowden syndrome should also be included in the differential diagnosis (Tables 1 and 2).…”

Section: Discussionmentioning

confidence: 99%

Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis

Spring

Fellmann²,

Giraud³

et al. 2013

The American Journal of Dermatopathology

View full text Add to dashboard Cite

Birt-Hogg-Dubé Syndrome (BHD) is a rare condition, transmitted as an autosomal-dominant trait. The etiology is due to a mutation in the BHD gene, which encodes folliculin (FLCN), located on chromosome 17p. The skin changes observed are benign skin tumors consisting of hamartomas of the hair follicle with dermal changes. Patients with BHD have an increased risk of spontaneous pneumothorax due to rupture of lung cysts and an increased risk of kidney tumors. We report 3 new cases of BHD and discuss their clinical features, histopathological findings, and molecular diagnostics. We highlight the importance of genetic analysis to confirm the diagnosis because of the clinical pitfalls involved in establishing a diagnosis. Finally, we discuss the histopathological features in BHD and tuberous sclerosis complex and focus on their overlapping criterias. A correct diagnosis is essential as it can be life saving for patients.

show abstract

Section: Discussionmentioning

confidence: 99%

Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis

Spring

Fellmann²,

Giraud³

et al. 2013

The American Journal of Dermatopathology

View full text Add to dashboard Cite

show abstract

“…In addition, angiofibromas and acrochordons are also seen in BHD patients. The FFS typically appear during the 3rd to 4th decades of life and usually occur on the face but may include the neck, ears and upper torso (Schaffer et al, 2005;Schulz et al, 2001).…”

Section: Introductionmentioning

confidence: 99%

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene

et al. 2010

View full text Add to dashboard Cite

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised by the presence of facial fibrofolliculomas, pulmonary cysts which may be associated with spontaneous pneumothorax and renal tumours. Germline mutations in the gene Folliculin (FLCN) were first identified in BHD patients in 2002. In addition FLCN mutations have also been described in families with isolated primary spontaneous pneumothorax (PSP) and also familial clear cell renal carcinomas (FcRCC). We have established a locus-specific database based on the Leiden Open (source) Variation Database (LOVD) software. The version of the database contains 60 previously published mutations and 10 previously unpublished novel germline FLCN mutations. The mutations are comprised of deletions (44.3%), substitutions (35.7%), duplications (14.3%) and deletion/insertions (5.7%). The database is accessible online at http://www.lovd.nl/flcn

show abstract

“…These benign hamartomatous growths are present commonly in the general population, most frequently associated with diabetes mellitus, although fewer in number [Demir and Demir, 2002]. Acrochordons have also been reported as components of other genetic syndromes with polypoid tumors, such as Gardner syndrome, Cowden syndrome, Multiple Endocrine Neoplasia I, Birt-Hogg-Dube (BHD), and Basal cell nevus syndrome [Winship et al, 1990;Williard et al, 1992;Toro et al, 1999;Chiritescu and Maloney, 2001;Vincent et al, 2003;Schaffer et al, 2005]. Interestingly, these syndromes have all been linked to tumor suppressor genes such as BHD, MEN1, PTCH, and PTEN [Toro et al, 1999;Chiritescu and Maloney, 2001;Schaffer et al, 2005].…”

Section: Discussionmentioning

confidence: 99%

Extensive acrochordons and pancreatic islet‐cell tumors in tuberous sclerosis associated with TSC2 mutations

Merritt

Davis

Pittelkow

et al. 2006

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Acrochordons are frequently encountered benign skin lesions that may occasionally represent underlying pathology. Pancreatic islet-cell tumors are rare neoplasms and few cases have been described in patients with tuberous sclerosis complex (TSC). A 39-year-old man presenting in acute renal failure was referred to us for further diagnostic evaluation of coincidentally noted dysmorphic features. Physical examination revealed over 1,000 acrochordons in addition to findings meeting criteria for TSC. The diagnosis was confirmed by disclosure of mutation in the TSC2 gene. Further evaluation revealed pancreatic islet cell tumors. Acrochordons are a common skin lesion, but when presenting in an atypical manner or unusual number may be a sign of TSC and underlying occult pathology thereby warranting evaluation of TSC2. Additionally, mutations in TSC2 gene may be a risk factor for developing pancreatic islet-cell tumors.

show abstract

Multiple facial angiofibromas: A cutaneous manifestation of Birt-Hogg-Dubé syndrome

Cited by 77 publications

References 27 publications

Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis

Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene

Extensive acrochordons and pancreatic islet‐cell tumors in tuberous sclerosis associated with TSC2 mutations

Contact Info

Product

Resources

About