Division of Dermatology, Kyoritsu General Hospital, Nagoya, Japan.
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Nagoya J Med Sci. 2021 May;83(2):393-396. doi: 10.18999/nagjms.83.2.393.
Basal cell nevus syndrome (BCNS) is an autosomal dominant skin disorder characterized by multiple basal cell nevi. Patients with BCNS tend to develop basal cell carcinoma (BCC) and frequently show skeletal abnormalities. Most cases of BCNS are caused by mutations in patched 1 (). encodes a transmembrane receptor protein for the secreted molecule sonic hedgehog, which plays a key role in the development of animals ranging from insects to mammals. We analyzed two Japanese BCNS patients from two independent families. Both of our patients had multiple jaw keratocysts. In one patient, these were the key to noticing his BCNS, as he had no skin tumors. The early detection of mutations would enable BCNS patients to be carefully followed up for the occurrence of BCC. The diagnosis of BCC at the early stage leads to prompt surgical treatments, resulting in a good prognosis. The present cases suggest that keratocysts of the jaw might be an important clue for diagnosing BCNS.
基底细胞痣综合征（BCNS）是一种常染色体显性皮肤疾病，其特征为多发性基底细胞痣。BCNS 患者易患基底细胞癌（BCC），且常伴有骨骼异常。大多数 BCNS 病例是由 patched 1（）基因突变引起的。 编码一种用于分泌分子 sonic hedgehog 的跨膜受体蛋白， sonic hedgehog 在从昆虫到哺乳动物的动物发育中起关键作用。我们分析了来自两个独立家族的两名日本 BCNS 患者。我们的两名患者均有多发性颌骨角化囊肿。在一名患者中，这些是发现他患有 BCNS 的关键，因为他没有皮肤肿瘤。 突变的早期检测将使 BCNS 患者能够仔细跟踪 BCC 的发生。早期诊断 BCC 并及时进行手术治疗，可获得良好的预后。本病例提示颌骨角化囊肿可能是诊断 BCNS 的重要线索。
