Toro J R, Glenn G, Duray P, Darling T, Weirich G, Zbar B, Linehan M, Turner M L
Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892-1908, USA.
Arch Dermatol. 1999 Oct;135(10):1195-202. doi: 10.1001/archderm.135.10.1195.
Birt-Hogg-Dubé syndrome (BHD) is a dominantly inherited predisposition for development of fibrofolliculomas, trichodiscomas, and acrochordons. Concurrent internal tumors, such as colonic polyps and renal carcinoma, have been described in patients with BHD.
To evaluate kindreds with familial renal tumors for cutaneous manifestations of BHD.
One hundred fifty-two patients from 49 families underwent complete oral and skin examination. Skin lesions were identified by their clinical appearance, and the diagnosis was confirmed by results of histologic examination. Individuals underwent screening for familial renal neoplasms.
A tertiary referral research hospital.
Individuals with familial renal tumors and their asymptomatic at-risk relatives.
We determined whether any form of renal cancer is associated BHD.
We identified 3 extended kindreds in whom renal neoplasms and BHD appeared to segregate together. Two kindreds had renal oncocytomas and a third had a variant of papillary renal cell carcinoma. Thirteen patients exhibited BHD. Seven individuals, including a set of identical twins, had renal neoplasms and BHD. An additional 4 patients (3 deceased and not examined) in these families had renal neoplasms but not BHD. Birt-Hogg-Dubé syndrome without renal neoplasms was present in 6 individuals. Thirteen patients with fibrofolliculomas and trichodiscomas presented clinically with multiple smooth skin-colored to grayish-white papules located on the face, auricles, neck, and upper trunk. Oral papules were present in 9 of 28 and achrochordons in 11 of 28 patients. Features of BHD not previously appreciated included deforming lipomas in 5, collagenomas in 4, and pulmonary cysts in 4 of 28 patients. Families with BHD did not display germline mutations in the von Hippel-Lindau gene or in the tyrosine kinase domain of the MET proto-oncogene.
Birt-Hogg-Dubé syndrome may be associated with familial renal tumors. Birt-Hogg-Dubé and renal tumors segregate together in an autosomal dominant fashion. Patients with BHD and their relatives are at risk for development of renal tumors. Therefore, patients with BHD and their relatives should undergo abdominal computed tomography and renal ultrasound screening for renal tumors.
Birt-Hogg-Dubé综合征（BHD）是一种常染色体显性遗传疾病，易患纤维毛囊瘤、毛发上皮瘤和皮赘。BHD患者还可并发内部肿瘤，如结肠息肉和肾癌。
评估有家族性肾肿瘤的家族中BHD的皮肤表现。
对来自49个家族的152名患者进行全面的口腔和皮肤检查。根据临床表现识别皮肤病变，并通过组织学检查结果确诊。对个体进行家族性肾肿瘤筛查。
一家三级转诊研究医院。
患有家族性肾肿瘤的个体及其无症状的高危亲属。
我们确定了任何形式的肾癌是否与BHD相关。
我们识别出3个扩展家族，其中肾肿瘤和BHD似乎一起遗传。两个家族患有肾嗜酸细胞瘤，第三个家族患有乳头状肾细胞癌的一种变体。13名患者表现出BHD。7名个体，包括一对同卵双胞胎，患有肾肿瘤和BHD。这些家族中另外4名患者（3名已故且未接受检查）患有肾肿瘤但无BHD。6名个体患有无肾肿瘤的Birt-Hogg-Dubé综合征。13名患有纤维毛囊瘤和毛发上皮瘤的患者临床上表现为面部、耳廓、颈部和上躯干有多个光滑的肤色至灰白色丘疹。28名患者中有9名有口腔丘疹，11名有皮赘。BHD以前未被认识到的特征包括28名患者中有5名出现变形脂肪瘤，4名出现胶原瘤，4名出现肺囊肿。患有BHD的家族在von Hippel-Lindau基因或MET原癌基因的酪氨酸激酶结构域中未显示种系突变。
Birt-Hogg-Dubé综合征可能与家族性肾肿瘤有关。Birt-Hogg-Dubé综合征和肾肿瘤以常染色体显性方式一起遗传。BHD患者及其亲属有患肾肿瘤的风险。因此，BHD患者及其亲属应接受腹部计算机断层扫描和肾脏超声检查以筛查肾肿瘤。
