Ann Thorac Surg 2006;82:1123-1125
© 2006 The Society of Thoracic Surgeons
Case report
Diagnosis of Birt-Hogg-Dube Syndrome in a Patient With Spontaneous Pneumothorax
Olivier Pittet, MD*,
Michel Christodoulou, MD,
Olivier Staneczek, MD,
Hans-Beat Ris, MD
Department of Thoracic Surgery, Centre Hospitalier Universitaire Vaudois, Switzerland
Accepted for publication November 23, 2005.
* Address correspondence to Dr Pittet, Centre Hospitalier Universitaire Vaudois, Service de Chirurgie Thoracique, rue du Bugnon 46, Lausanne, 1011 Switzerland (Email: opittet{at}scanvirus.ch).
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Abstract
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Birt-Hogg-Dube syndrome refers to a dermatologic syndrome, consisting of small papular skins lesion distributed on the scalp, forehead, face and neck, which is autosomal dominantly inherited. Subsequently patients may develop concomitant renal and thoracic pathology. We report the case of a patient with Birt-Hogg-Dube syndrome diagnosed after spontaneous pneumothorax.
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Introduction
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The syndrome was reported for the first time in 1977 by Birt, Hogg, and Dube [1] who described small papular skins lesion distributed on the scalp, forehead, face, and neck in 15 of 70 members of the same family. The papula lesions develop after the age of 25 years, are autosomal dominantly inherited, and contain ectodermal and mesodermal components. Histologic examination of the lesions reveals fibrofolliculomas, trichodiscomas, and acrochordons. Subsequently patients may develop concomitant renal carcinoma and bullous lung diseases (eg, lung cysts or bullous emphysema), which are associated with recurrent pneumothorax.
A 43-year-old woman presented with a history of progressive dyspnea for 6 months. Chest roentgenogram revealed a left pneumothorax that was treated with drainage. Thoracic computed tomographic scan showed multiple bilateral cystic lesions of the lung (Fig 1). Family anamnesis revealed a Birt-Hogg-Dube syndrome (BHDS) in a member of her family. The patient indeed had papulous lesions on her face as described in the literature (Fig 2). Histologic examination of one of them revealed a fibrofolliculoma. The patient underwent a left thoracoscopy with wedge resections of the pulmonary cystic lesions for persistent pneumothorax (Fig 3). Histologic assessment revealed benign cysts and the absence of lymphangioleiomyomatosis, which was one of the differential diagnosis revealed by computed tomographic scan images.
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Fig 1. Computed tomographic scan images revealing bilateral cysts of the lung in the upper lobe (left) and lower lobe (right) associated with left pneumothorax.
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Fig 3. Intraoperative cystic pulmonary lesions of the left upper lobe (left) and the left lower lobe (right).
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Comment
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Birt-Hogg-Dube syndrome describes a rare, autosomal dominant inherited pathology consisting of papular skin lesions (ie, fibrofolliculomas) on the face, neck, forehead, and scalp [1, 2].
Multiple or bilateral renal carcinomas, particularly chromophobe renal carcinoma, and renal oncocytomas have been reported in association with this syndrome [3–6]. Pulmonary cysts and spontaneous pneumothoraxes have also been increasingly reported in association with BHDS [6]. Other associated symptoms have been described, such as large connective tissue nevus, parathyroid adenomas, flecked chorioretinopathy, bullous emphysema, lipomas, angiolipomas, parotid oncocytomas, and multiple oral mucosal papules [7]. Colonic polyps and colonic adenocarcinoma had been previously associated with BHDS; however, a recent large cohort study failed to demonstrate such a correlation [8]. Likewise medullary thyroid cancers have been found in 9 members of the original family described by Birt and colleagues [1], but not in subsequent cases.
Little is known about the pathophysiology of BHDS. The cause of mesodermal proliferation is unknown, but autosomal dominant inheritance has been identified in patients with BHDS. Recently it has been demonstrated that BHDS maps to chromosome 17p11.2 [4, 9].
No specific medical treatment exists for the cutaneous lesions. The principle concern of BHDS is its association with renal carcinoma. Annual physical examinations and renal ultrasound screening should be proposed to those patients as well as to their relatives. Birt-Hogg-Dube syndrome is a rare entity that has to be suspected in cases of multiple pulmonary cystic lesions associated with papular skins lesion of the head and upper extremities.
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References
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- Birt AR, Hogg GR, Dube WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons Arch Dermatol 1977;113:1674-1677.[Abstract/Free Full Text]
- Vincent A, Farley M, Chan E, James WD. Birt-Hogg-Dube syndromea review of the literature and the differential diagnosis of firm facial papules. J Am Acad Dermatol 2003;49:698-705.[Medline]
- Pavlovich CP, Grubb III RL, Hurley K, et al. Evaluation and management of renal tumors in the Birt-Hogg-Dube syndrome J Urol 2005;173:1482-1486.[Medline]
- Schmidt LS, Warren MB, Nickerson ML, et al. Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2 Am J Hum Genet 2001;69:876-882.[Medline]
- Schmidt LS. Birt-Hogg-Dube syndrome, a genodermatosis that increases risk for renal carcinoma Curr Mol Med 2004;4:877-885.[Medline]
- Toro JR, Glenn G, Duray P, et al. Birt-Hogg-Dube syndromea novel marker of kidney neoplasia. Arch Dermatol 1999;135:1195-1202.[Abstract/Free Full Text]
- Chung JY, Ramos-Caro FA, Beers B, Ford MJ, Flowers F. Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome Int J Dermatol 1996;35:365-367.[Medline]
- Zbar B, Alvord WG, Glenn G, et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome Cancer Epidemiol Biomarkers Prev 2002;11:393-400.[Abstract/Free Full Text]
- Nickerson ML, Warren MB, Toro JR, et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome Cancer Cell 2002;2:157-164.[Medline]
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Abstract
Introduction
