背景Gorlin综合征,也称为基底细胞痣综合征(BCNS),中性基底细胞癌综合征(NBCCS),颌骨囊肿-基底细胞痣-双歧肋骨综合征,是一种罕见的多系统综合征,可以影响人体大量的组织和器官。患有这种综合征的患者在青春期或成年早期有发展为基底细胞皮肤癌的危险。这里的案例报告,我们报告了一例58岁的女性,她有多个色素性皮肤病变和一个可触及的左侧肩胛骨肿瘤。患者接受了上述病变的手术切除。组织病理学检查显示,其中10例为基底细胞皮肤癌(BCC);因此,患者被证实患有该综合征。她有类似的皮肤损伤史,在20岁之前被移除。结论这个案例强调了罕见的现象,例如存在多个BCC,需要额外的调查和多学科的方法,因为罕见的和潜在的威胁生命的条件可能是根本原因。Gorlin综合征的早期诊断对于促进适当的治疗方法至关重要。由一个多学科团队指导。患有多种皮肤病变的患者需要由其全科医生或皮肤科医生进行定期评估,皮肤镜检查是重要的预防措施。此外,因为该综合征的发病机制以基底细胞癌的发展为特征,连续随访具有重要意义。
BACKGROUND Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), nevoid basal cell carcinoma syndrome (NBCCS), and Jaw cyst-Basal cell nevus-Bifid rib syndrome, is a rare multisystemic syndrome that can affect a remarkable number of tissues and organs in the human body. Patients with this syndrome are in jeopardy of developing basal cell skin cancer during puberty or early adulthood.
CASE REPORT Herein, we report a
case of a 58-year-old woman who had multiple pigmented skin lesions and a palpable tumor of the left scapula. The patient underwent surgical excision of the above-mentioned lesions. The histopathological examination revealed that 10 of them were basal cell skin carcinomas (BCCs); therefore, the patient was proven to have the syndrome. She had a history of similar skin lesions, which were removed before the age of 20. CONCLUSIONS This
case highlights that rare phenomena, such as the presence of multiple BCCs, require additional investigations and a multidisciplinary approach since a rare and potentially life-threating condition might be the underlying cause. Early diagnosis of Gorlin syndrome is of paramount importance to facilitate the appropriate therapeutic approach, as directed by a multidisciplinary team. Patients with multiple skin lesions need to have regular assessments by their general practitioner or dermatologist, with dermoscopy serving as an important preventive measure. Furthermore, because pathogenesis of the syndrome is characterized by development of basal cell carcinomas, consecutive follow-up is of a great significance.