Abdelhammed Mokhtar H, Plon Sharon E, Nuchtern Jed G, Rainusso Nino C, Saadeldin Amr M, Patel Kalyani R
Pathology & Immunology, Baylor College of Medicine, Houston, TX.
Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX.
Am J Dermatopathol. 2025 May 2;47(7):531-535. doi: 10.1097/DAD.0000000000002992.
Nevoid basal cell carcinoma syndrome (NBCCS) (also known as Gorlin-Goltz syndrome, GGS) is a rare autosomal dominant condition with the classic triad of basal cell carcinoma (BCC), keratocystic odontogenic tumor/s, and skeletal malformations. We describe a 15-year-old African American girl who presented with keratocystic odontogenic tumor/s, calcification of the tentorium, and a new development of an atypical nodulocystic lesion on the chest wall. Both fine needle aspiration and subsequent resection showed a rare adenoid cystic variant of BCC. She had a mutation in PTCH1 c.2887+1G > A with a possibly mosaic variant. Development of BCCs is typically in early adulthood in this syndrome and more frequent in individuals of European ancestry. Acrochordon-like lesions are the most common clinical presentation and nodular, follicular, or infundibulocystic are common histologic variants. This case is a rare presentation of BCC in an African American girl with a clinically nodulocystic lesion and unusual adenoid histologic features. This case also emphasizes the significance of a multidisciplinary approach in treating these complex patients.
痣样基底细胞癌综合征(NBCCS)(也称为戈林-戈尔茨综合征,GGS)是一种罕见的常染色体显性遗传病,具有基底细胞癌(BCC)、牙源性角化囊性瘤和骨骼畸形这一经典三联征。我们描述了一名15岁的非裔美国女孩,她患有牙源性角化囊性瘤、小脑幕钙化,并且胸壁出现了一种新的非典型结节性囊肿性病变。细针穿刺活检及随后的切除显示为一种罕见的腺样囊性型基底细胞癌。她的PTCH1基因存在c.2887+1G > A突变,可能是一种嵌合变异。在该综合征中,基底细胞癌通常在成年早期发病,在欧洲血统个体中更为常见。皮赘样病变是最常见的临床表现,结节型、滤泡型或漏斗状囊肿型是常见的组织学变异类型。该病例是一名非裔美国女孩中基底细胞癌的罕见表现,具有临床结节性囊肿性病变和不寻常的腺样组织学特征。该病例还强调了多学科方法在治疗这些复杂患者中的重要性。