Syndrome of birt-hogg-dubé, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases.

Détails

ID Serval
serval:BIB_D97FC4BE1644
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Syndrome of birt-hogg-dubé, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases.
Périodique
American Journal of Dermatopathology
Auteur(s)
Spring P., Fellmann F., Giraud S., Clayton H., Hohl D.
ISSN
1533-0311 (Electronic)
ISSN-L
0193-1091
Statut éditorial
Publié
Date de publication
2013
Volume
35
Numéro
2
Pages
241-245
Langue
anglais
Notes
Publication types: Journal ArticlePublication Status: ppublish. PDF type: Brief Report
Résumé
: 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.
Pubmed
Web of science
Création de la notice
03/05/2013 19:41
Dernière modification de la notice
20/08/2019 15:58
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