Department of Dermatology, Hospital Clínico Universitario "Lozano Blesa", Zaragoza, Spain.
Department of Pathology, Hospital Clínico Universitario "Lozano Blesa", Zaragoza, Spain.
Australas J Dermatol. 2023 May;64(2):249-254. doi: 10.1111/ajd.14014. Epub 2023 Feb 24.
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by an aberrant activation of the hedgehog (Hh) pathway, most cases being caused by PTCH1 mutations. However, certain features such as multiple hereditary infundibulocystic basal cell carcinomas (MHIBCC), sclerotic fibromas, childhood medulloblastoma or meningioma may be relatively specific to a SUFU mutation. We present two patients with MHIBCC, along with a more complex cutaneous and extracutaneous phenotype. MHIBCC syndrome and BCNS may share clinical features and, indeed, both syndromes probably represent different degrees of upregulation in the Hh pathway.
基底细胞痣综合征（BCNS），又称 Gorlin 综合征，其特征为 hedgehog（Hh）通路异常激活，大多数病例由 PTCH1 突变引起。然而，某些特征，如多发性遗传性漏斗部囊状基底细胞瘤（MHIBCC）、硬化性纤维瘤、儿童髓母细胞瘤或脑膜瘤，可能相对特异于 SUFU 突变。我们报告了两例 MHIBCC 患者，以及更复杂的皮肤和皮肤外表型。MHIBCC 综合征和 BCNS 可能具有相似的临床特征，事实上，两种综合征可能代表 Hh 通路的不同程度上调。
