Title |
Genetically diagnosed Birt–Hogg–Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report
|
---|---|
Published in |
Familial Cancer, October 2016
|
DOI | 10.1007/s10689-016-9928-y |
Pubmed ID | |
Authors |
James Whitworth, Brian Stausbøl-Grøn, Anne-Bine Skytte |
Abstract |
When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited condition. Here we describe an individual with a submandibular oncocytoma, pulmonary bullae and renal cysts as well as multiple cerebral cavernous malformations and haemangiomas. Genetic investigations revealed constitutional mutations in FLCN, associated with Birt-Hogg-Dubé syndrome (BHD) and CCM2, associated with familial cerebral cavernous malformation. Intracranial vascular pathologies (but not cerebral cavernous malformation) have recently been described in a number of individuals with BHD (Kapoor et al. in Fam Cancer 14:595-597, 10.1007/s10689-015-9807-y , 2015) but it is not yet clear whether they represent a genuine part of that conditions' phenotypic spectrum. We suggest that in such instances of potentially novel clinical features, more extensive genetic testing to consider co-existing conditions should be considered where available. The increased use of next generation sequencing applications in diagnostic settings is likely to lead more cases such as this being revealed. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 14 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 4 | 29% |
Student > Bachelor | 1 | 7% |
Student > Master | 1 | 7% |
Researcher | 1 | 7% |
Professor > Associate Professor | 1 | 7% |
Other | 1 | 7% |
Unknown | 5 | 36% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 5 | 36% |
Biochemistry, Genetics and Molecular Biology | 2 | 14% |
Computer Science | 1 | 7% |
Unknown | 6 | 43% |