PDF(Pubmed)
Abstract：
BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is a rare autosomal dominantly inherited disorder that is characterized by multisystem disorder such as basal cell carcinomas, keratocystic odontogenic tumors and skeletal abnormalities. Bilateral and/or unilateral ovarian fibromas have been reported in individuals diagnosed with NBCCS.
METHODS: A 22-year-old female, presented with low back pain, and was found to have bilateral giant adnexal masses on pelvic ultrasonography, which had been suspected to be malignant ovarian tumors. Positron emission tomography/computed tomography showed multiple intracranial calcification and skeletal abnormalities. The left adnexa and right ovarian tumor were resected with laparotomy, and pathology revealed bilateral ovarian fibromas with marked calcification. We recommended the patient to receive genetic testing and dermatological examination. No skin lesion was detected. Germline testing identified pathogenic heterozygous mutation in PTCH1 (Patched1).
CONCLUSIONS: The possibility of NBCCS needs to be considered in patients with ovarian fibromas diagnosed in an early age. Skin lesions are not necessary for the diagnosis of NBCCS. Ovarian fibromas are managed with surgical excision with an attempt at preserving ovarian function. Follow-up regime and counseling on options for future fertility should be offered to patients.
METHODS: A 22-year-old female, presented with low back pain, and was found to have bilateral giant adnexal masses on pelvic ultrasonography, which had been suspected to be malignant ovarian tumors. Positron emission tomography/computed tomography showed multiple intracranial calcification and skeletal abnormalities. The left adnexa and right ovarian tumor were resected with laparotomy, and pathology revealed bilateral ovarian fibromas with marked calcification. We recommended the patient to receive genetic testing and dermatological examination. No skin lesion was detected. Germline testing identified pathogenic heterozygous mutation in PTCH1 (Patched1).
CONCLUSIONS: The possibility of NBCCS needs to be considered in patients with ovarian fibromas diagnosed in an early age. Skin lesions are not necessary for the diagnosis of NBCCS. Ovarian fibromas are managed with surgical excision with an attempt at preserving ovarian function. Follow-up regime and counseling on options for future fertility should be offered to patients.
摘要：
背景：痣样基底细胞癌综合征（NBCCS，Gorlin综合征）是一种罕见的常染色体显性遗传性疾病，其特征是多系统疾病，例如基底细胞癌，角化囊性牙源性肿瘤和骨骼异常。已在诊断为NBCCS的个体中报道了双侧和/或单侧卵巢纤维瘤。
方法：一位22岁的女性，出现腰痛，盆腔超声检查发现双侧巨大附件肿块，被怀疑是恶性卵巢肿瘤。正电子发射断层扫描/计算机断层扫描显示多发颅内钙化和骨骼异常。左侧附件和右侧卵巢肿瘤经剖腹手术切除，病理提示双侧卵巢纤维瘤伴明显钙化。我们建议患者接受基因检测和皮肤病学检查。未检测到皮肤损伤。种系测试在PTCH1（Patched1）中鉴定出致病性杂合突变。
结论：在早期诊断为卵巢纤维瘤的患者中，需要考虑NBCCS的可能性。皮肤损伤对于NBCCS的诊断是不必要的。卵巢纤维瘤通过手术切除治疗，试图保留卵巢功能。应向患者提供后续制度和未来生育选择的咨询。
方法：一位22岁的女性，出现腰痛，盆腔超声检查发现双侧巨大附件肿块，被怀疑是恶性卵巢肿瘤。正电子发射断层扫描/计算机断层扫描显示多发颅内钙化和骨骼异常。左侧附件和右侧卵巢肿瘤经剖腹手术切除，病理提示双侧卵巢纤维瘤伴明显钙化。我们建议患者接受基因检测和皮肤病学检查。未检测到皮肤损伤。种系测试在PTCH1（Patched1）中鉴定出致病性杂合突变。
结论：在早期诊断为卵巢纤维瘤的患者中，需要考虑NBCCS的可能性。皮肤损伤对于NBCCS的诊断是不必要的。卵巢纤维瘤通过手术切除治疗，试图保留卵巢功能。应向患者提供后续制度和未来生育选择的咨询。
