Birt-Hogg-Dubé syndrome with novel FLCN gene mutations and different clinical presentations: Case series

TL;DR

This paper presents a case series of Birt-Hogg-Dubé syndrome with new FLCN gene mutations and varying clinical features.

Contribution

The study reports novel FLCN gene mutations and their association with different clinical presentations in BHDS.

Findings

Novel FLCN gene mutations were identified in patients with Birt-Hogg-Dubé syndrome.

Clinical manifestations varied among cases, including lung and skin symptoms as well as renal tumors.

Some mutations correlated with specific clinical features, suggesting personalized follow-up protocols.

Abstract

ABSTRACT

Birt-Hogg-Dubé syndrome with novel FLCN gene mutations and
different clinical presentations: Case series

Birt-Hogg-Dubé syndrome (BHDS) is a rare genetically
inherited autosomal dominant condition characterized by pulmonary
cysts, spontaneous pneu- mothorax, benign skin tumors
(fibrofolliculoma, trichodiscoma), and renal tumors. Birt et al.
defined this genodermatosis as being caused by numerous germline
mutations in the FLCN gene, which encodes the protein folliculin
located in the 14th exon of the p11.2 region of the 17th chromosome.
Although this rare syndrome should be kept in mind in patients with
cystic lung disease, it can also be seen without lung involvement.
Furthermore, with an increasing number of reported cases, certain
mutations have been cor- related with specific clinical
manifestations, enabling tailored follow-up pro- tocols based on the
type of genetic mutation.

Key words:

Cystic lung disease;
genodermatosis; rare disease

ÖZ

Yeni FLCN gen mutasyonu ve farklı klinik prezentasyonlarla
Birt Hogg Dubé sendromu: Olgu serisi

Birt Hogg Dubé sendromu (BHDS), pulmoner kistler, spontan
pnömotoraks, iyi huylu deri tümörleri (fibrofoliküloma,
trikodiskoma) ve böbrek tümörleri ile karakterize nadir görülen
otozomal dominant geçişli bir hastalıktır. Birt ve arkadaşları bu
genodermatozu, 17. kromozomun p11.2 bölgesinin 14. ekzo- nunda
bulunan folliculin’i kodlayan FLCN genindeki çok sayıda germline
mutasyonun neden olduğu bir hastalık olarak tanımlamıştır. Bu nadir
send- rom, kistik akciğer hastalığı olan hastalarda akılda tutulması
gerekse de akci- ğer tutulumu olmadan da görülebilir. Ek olarak,
daha fazla vaka bildirildikçe, bazı mutasyonlar klinik belirtilerle
ilişkilendirilmeye başlanmıştır ve takip protokolleri genetik
mutasyon tipine göre bireyselleştirilebilir.

Anahtar kelimeler:

Kistik akciğer hastalığı;
genodermatoz; nadir hastalık

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