PDF(Pubmed)
Abstract：
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal tumors that are usually hybrid oncocytic or multifocal chromophobe renal cell carcinoma. The diagnosis is confirmed by the presence of a pathogenic variant in the tumor suppressor folliculin (FLCN) gene mapped at 17p11.2. Although the dermatological lesions typical of BHDS are benign and only cause aesthetic concerns, and the pulmonary manifestations are controllable, the greater tendency of patients with this syndrome to present benign or malignant renal tumors, often bilateral and multifocal, makes the diagnosis of this syndrome important for the prognosis of the patients. The objective was to report the case of a patient with BHDS, without pulmonary manifestations and with hyperplastic polyposis of the gastrointestinal tract, and to perform a literature review.
A 60-year-old man complained of abdominal pain and diarrhoea for 2 months. Physical examination was normal except for the presence of normochromic papules in the frontal region of the face associated with hyperkeratotic and hyperchromic papules in the dorsal region. The excisional biopsies of the skin lesions indicated trichodiscomas. Esophagogastroduodenoscopy, enteroscopy, and colonoscopy showed the presence of hyperplastic polyps in the stomach, duodenum, jejunum, colon, and rectum. Computed tomography (CT) and magnetic resonance imaging (MRI) of the abdomen revealed multiple expansive solid lesions in both kidneys, with necrotic and calcified areas. Renal magnetic resonance angiography also showed a solid lesion in the right kidney measuring 5 cm in diameter and another solid lesion in the left kidney measuring 8 cm in diameter, both suggestive of renal angiomyolipoma. CT scans of the skull, chest, and temporal bones were normal. The genetic study revealed the presence of a variant of FLCN in the intron 13.
To the best of our knowledge, this is the first reported case of BHDS with the simultaneous finding of gastrointestinal hyperplastic polyposis, which may represent a possible phenotypic expression of this syndrome that has not yet been described.
A 60-year-old man complained of abdominal pain and diarrhoea for 2 months. Physical examination was normal except for the presence of normochromic papules in the frontal region of the face associated with hyperkeratotic and hyperchromic papules in the dorsal region. The excisional biopsies of the skin lesions indicated trichodiscomas. Esophagogastroduodenoscopy, enteroscopy, and colonoscopy showed the presence of hyperplastic polyps in the stomach, duodenum, jejunum, colon, and rectum. Computed tomography (CT) and magnetic resonance imaging (MRI) of the abdomen revealed multiple expansive solid lesions in both kidneys, with necrotic and calcified areas. Renal magnetic resonance angiography also showed a solid lesion in the right kidney measuring 5 cm in diameter and another solid lesion in the left kidney measuring 8 cm in diameter, both suggestive of renal angiomyolipoma. CT scans of the skull, chest, and temporal bones were normal. The genetic study revealed the presence of a variant of FLCN in the intron 13.
To the best of our knowledge, this is the first reported case of BHDS with the simultaneous finding of gastrointestinal hyperplastic polyposis, which may represent a possible phenotypic expression of this syndrome that has not yet been described.
摘要：
Birt-Hogg-Dubé综合征（BHDS）是一种罕见的常染色体显性遗传皮肤病，其特征是毛囊的良性生长，肺囊肿的存在，自发性气胸,和双侧肾肿瘤，通常是杂合嗜酸细胞或多灶性嫌色细胞肾细胞癌。通过在17p11.2定位的肿瘤抑制因子卵泡素（FLCN）基因中存在致病性变异来证实诊断。尽管BHDS典型的皮肤病病变是良性的，仅引起美学问题，肺部表现是可控的，这种综合征的患者更容易出现良性或恶性肾脏肿瘤，通常是双边和多焦点，使得该综合征的诊断对患者的预后很重要。目的是报告一例BHDS患者，没有肺部表现和胃肠道增生性息肉病，并进行文献综述。
一名60岁男子主诉腹痛和腹泻2个月。体格检查正常，除了面部额叶区域存在正常色斑丘疹，并且背侧区域存在过度角化和高色斑丘疹。皮肤病变的切除活检显示毛状肉瘤。食管胃十二指肠镜检查，小肠镜检查,结肠镜检查显示胃中存在增生性息肉，十二指肠,空肠,结肠,直肠。腹部计算机断层扫描（CT）和磁共振成像（MRI）显示两个肾脏有多个扩张性实性病变，坏死和钙化区域。肾磁共振血管造影还显示右肾有一个实性病变，直径为5厘米，左肾另一个实性病变直径为8厘米，均提示肾血管平滑肌脂肪瘤。头骨的CT扫描,胸部，颞骨正常.遗传研究揭示了内含子13中存在FLCN的变体。
据我们所知,这是首例同时发现胃肠道增生性息肉的BHDS病例，这可能代表了尚未描述的该综合征的可能表型表达。
一名60岁男子主诉腹痛和腹泻2个月。体格检查正常，除了面部额叶区域存在正常色斑丘疹，并且背侧区域存在过度角化和高色斑丘疹。皮肤病变的切除活检显示毛状肉瘤。食管胃十二指肠镜检查，小肠镜检查,结肠镜检查显示胃中存在增生性息肉，十二指肠,空肠,结肠,直肠。腹部计算机断层扫描（CT）和磁共振成像（MRI）显示两个肾脏有多个扩张性实性病变，坏死和钙化区域。肾磁共振血管造影还显示右肾有一个实性病变，直径为5厘米，左肾另一个实性病变直径为8厘米，均提示肾血管平滑肌脂肪瘤。头骨的CT扫描,胸部，颞骨正常.遗传研究揭示了内含子13中存在FLCN的变体。
据我们所知,这是首例同时发现胃肠道增生性息肉的BHDS病例，这可能代表了尚未描述的该综合征的可能表型表达。
