| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
Case Report |
1 Department of Radiology, Vancouver General Hospital and University of British
Columbia, 899 W 12th Ave., Vancouver, BC, V5Z 1M9 Canada.
2 Department of Surgery, Vancouver General Hospital and University of British
Columbia, Vancouver, BC, V5Z 1M9 Canada.
Received September 17, 2004;
revised November 12, 2004;
Address correspondence to N. L. Müller.
Introduction
 Top Introduction Case ReportDiscussionReferences |
|---|
We report the radiographic and high-resolution CT findings in a 54-year-old woman with Birt-Hogg-Dubé syndrome and history of renal cell carcinoma. The pulmonary abnormalities consisted of multiple thin-walled cysts measuring 1–5.5 cm in diameter and involving mainly the lower lobes.
|
TopIntroductionCase ReportDiscussionReferences |
|---|
|
|
|
The patient had a 5-year history of multiple skin papules, which on skin biopsy were shown to be fibrofolliculomas. She had undergone right radical nephrectomy for renal cell carcinoma 27 years previously. Her family medical history revealed several relatives with a clinical diagnosis of Birt-Hogg-Dubé syndrome. Two of the relatives had previous kidney tumors.
Physical examination performed by a dermatologist showed typical cutaneous manifestations of Birt-Hogg-Dubé syndrome, including almost 100 small papules distributed in her face, neck, and trunk. Biopsy of a retroauricular papule showed perifollicular fibrosis, consistent with histologic diagnosis of fibrofolliculoma. Follow-up sonography examinations of the native kidney have not shown additional renal lesions, and no evidence of recurrence has been visualized in the renal bed on the right side.
|
TopIntroductionCase ReportDiscussionReferences |
|---|
Recently, the gene mutation responsible for the development of the disease was identified. The gene locus is localized within chromosome 17p11.2, in an unstable genomic region that is associated with a number of diseases [2, 7]. Papules, varying in number from a few to several hundred, with a histological diagnosis of fibrofolliculoma, are the hallmark of the syndrome [1, 2]. They are asymptomatic and develop during the third or fourth decades of life, increasing in number and size as patients grow older.
Patients with Birt-Hogg-Dubé syndrome are at increased risk for developing different types of renal tumors [2–4, 8, 9], ranging from benign oncocytomas to malignant renal carcinomas. Familial kidney tumors are often bilateral and multifocal and are usually asymptomatic in the initial stages. It is therefore recommended that affected patients and family members undergo abdominal CT and renal sonography screening for renal cancer [3, 4, 8, 9]. Other systemic conditions associated with Birt-Hogg-Dubé syndrome include colonic polyposis and ophthalmologic disorders, such as progressive flecked chorioretinopathy and chorioretinal scars [7].
The presence of lung cysts in association with Birt-Hogg-Dubé syndrome was first described by Toro et al. [3] in 1999 in a study of 152 individuals from 49 families with familial renal neoplasms syndromes. Among these patients, three of the 13 who had Birt-Hogg-Dubé syndrome exhibited pulmonary cysts, and one of these three patients developed pneumothorax [3]. A few additional cases of lung cysts and spontaneous pneumothorax have since been reported in the literature [2, 5, 7–9]. Bullous emphysema has also been described [2, 7]. The increased frequency of reports on pulmonary cystic abnormalities in these patients strongly suggests that they are manifestations of Birt-Hogg-Dubé syndrome rather than chance associations.
The incidence of Birt-Hogg-Dubé syndrome is unknown. Prognosis depends on associated comorbid factors, particularly renal cell carcinoma, because the typical dermatologic lesions are benign, causing only cosmetic concerns. Given its autosomal-dominant trait, genetic counseling is advised.
Birt-Hogg-Dubé syndrome needs to be distinguished from more common conditions associated with multiple pulmonary cysts such as lymphangioleiomyomatosis, Langerhans cell histiocytosis, lymphocytic interstitial pneumonitis, and Pneumocystis carinii pneumonia. The distribution and the large size of some of the cysts seen in the current case allow ready distinction from lymphangioleiomyomatosis, which is characterized by the presence of thin-walled, typically round, cysts in a diffuse distribution throughout the lungs. The findings are also distinct from those of Langerhans cell histiocytosis, which typically presents with cysts and nodules and spares the lung bases. The absence of other parenchymal abnormalities such as groundglass attenuation and small nodules and the lack of clinical history of an underlying immunologic process, such as Sjögren's syndrome, rule out the possibility of lymphocytic interstitial pneumonitis, and clinical history rules out previous P. carinii pneumonia.
In summary, we describe a case of BirtHogg-Dubé syndrome associated with thinwalled pulmonary cysts, an association not previously reported in the radiologic literature. Radiologists, as well clinicians, must be able to recognize this syndrome and be aware of its associated findings and potential complications.
|
TopIntroductionCase ReportDiscussionReferences |
|---|
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
This article has been cited by other articles:
|
|
 |
|
  Y. Gunji, T. Akiyoshi, T. Sato, M. Kurihara, S. Tominaga, K. Takahashi, and K. Seyama Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax J. Med. Genet., September 1, 2007; 44(9): 588 - 593. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. S. Ayo, G. L. Aughenbaugh, E. S. Yi, J. L. Hand, and J. H. Ryu Cystic Lung Disease in Birt-Hogg-Dube Syndrome Chest, August 1, 2007; 132(2): 679 - 684. [Abstract] [Full Text] [PDF]
|
|
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
