Calcified ovarian fibromas complicated with basal cell nevus syndrome

Abstract

Basal cell nevus syndrome (BCNS) is a rare neurocutaneous syndrome characterized by tumorigeneses such as basal cell carcinomas, jaw cysts, ovarian fibromas, and cardiac fibromas. We present a 24-year-old female with calcified ovarian fibromas associated with BCNS. She had a surgical history of the maxillary cyst and was diagnosed with BCNS due to the cutaneous pits. Magnetic resonance imaging indicated an 8-cm mass and a 4-cm mass, which had been suspected to be a subserosal myoma and a fibroma, respectively. GnRH agonist was preoperatively administered; however, the size of the masses did not change. In laparoscopy, a tumor consisting of 8- and 5-cm masses in the right ovary was identified, and tumorectomy was performed. Because both tumors were extraordinarily rigid and could not be morcellated with scalpels or scissors, we removed them by the Luer Bone Rongeurs with minilaparotomy. The histopathological diagnosis was the ovarian fibromas with marked calcification.

Bilateral ovarian fibromas as the sole manifestation of Gorlin syndrome in a 22-year-old woman: a case report and literature review

“…Germline testing identified pathogenic heterozygous mutation in PTCH1 .) Morse [ 13 ] 2011 15 Caucasian Irregular menses Medulloblastoma at 6 months, multiple KCOTs at age 7 years Bilateral Yes Seracchioli [ 3 ] 2001 22 Italian Irregular menses KCOTs resection 5 times between age 9–16 years, BCCs at age 16 years Bilateral Yes Aram [ 14 ] 2009 22 Iranian Irregular menses KCOTs at age 12 years; facial dysmorphism Bilateral Yes Finch [ 15 ] 2012 22 Caucasian Irregular menses KCOTs removed at ages 7, 13 and 20 Unilateral Yes Pirschner [ 6 ] 2012 20 Brazilian Abdominal swelling KCOTs at age 10 years; facial asymmetry, micrognathism Bilateral Yes Osaku [ 5 ] 2021 24 Unknown None KCOTs resection at the age of 18 and 20 years, palmar /plantar pits Unilateral Yes Jimbo [ 16 ] 2014 6 Japanese …”

Mutations of gene in two pedigrees with bifid rib-basal cell nevus-jaw cyst syndrome

“…BCNS可通过患者临床特征进行诊断 ［ 6 ］ 。虽然没有明确的基因型/表型相关性，但临床标准往往与基因突变的识别相匹配。由BCNS国际学术研讨会发布的诊断标准共识声明 ［ 7 ］ 可知，诊断BCNS的临床条件包括：①两项主要诊断标准；②一项主要诊断标准和两项次要诊断标准。其中主要诊断标准为：①多发基底细胞癌，20岁以下的单个基底细胞癌或10个以上的基底细胞痣；②病理学检查证实为牙源性角化囊肿；③多发性掌跖特殊凹陷；④颅内片层钙化或20岁以下的早期钙化；⑤家族中一级亲属患有BCNS。次要诊断标准为：正常身高发育完成后的巨头畸形、先天性颌面部畸形（唇腭裂）、额部隆起和中重度的眶距过宽、胸部畸形、脊椎异常、手脚畸形、先天性白内障、青光眼及子宫纤维瘤等。目前其发病机制尚不清楚，多数学者认为遗传和免疫是疾病发生及进展的主要原因 ［ 8 - 9 ］ 。…”