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Gorlin综合征

Gorlin syndrome

ORPHA:377疾病中国目录 第2批 · 39

定义 英文原文（暂无中文）

A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.

别名

痣样基底细胞癌综合征

基本事实

遗传方式
常染色体显性
发病年龄
青少年期、成年期
患病率
1-9 / 100 000（Europe）

相关基因 3

基因名称关联类型
PTCH1patched 1Disease-causing germline mutation(s) (loss of function) in
PTCH2patched 2Disease-causing germline mutation(s) in
SUFUSUFU negative regulator of hedgehog signalingDisease-causing germline mutation(s) (loss of function) in

临床表型 45

极常见 99–80%5

  • 脑钙化 HP:0002514
  • 黑素细胞痣 HP:0000995
  • 肿瘤 HP:0002664
  • 手掌点状隐窝 HP:0010610
  • 跖部隐窝 HP:0010612

常见 79–30%14

  • 肋骨形态异常 HP:0000772
  • 颈部异常 HP:0000464
  • 杯状前肋 HP:0000907
  • 基底细胞癌 HP:0002671
  • 肋骨端分叉 HP:0000892
  • 短指（趾） HP:0001156
  • 大脑镰钙化 HP:0005462
  • 巨头畸形 HP:0000256
  • 颌骨牙源性角化囊肿 HP:0010603
  • 肋骨融合 HP:0000902
  • 脊柱侧弯 HP:0002650
  • 椎体融合 HP:0002948
  • 椎体楔形变 HP:0008422
  • 宽鼻梁 HP:0000431

偶见 29–5%24

  • 椎骨形态异常 HP:0003468
  • 嗅觉异常 HP:0004408
  • 细长指(趾) HP:0001166
  • 短头畸形 HP:0000248
  • 桥形蝶鞍 HP:0005449
  • 龋齿 HP:0000670
  • 白内障 HP:0000518
  • 面容粗糙 HP:0000280
  • 隐睾 HP:0000028
  • 内眦赘皮 HP:0000286
  • 前额突出 HP:0002007
  • 青光眼 HP:0000501
  • 半椎体 HP:0002937
  • 脑积水 HP:0000238
  • 眼距过宽 HP:0000316
  • 低促性腺激素性性腺功能减退症 HP:0000044
  • 智力障碍 HP:0001249
  • 虹膜缺损 HP:0000612
  • 下颌前突 HP:0000303
  • 脑膜瘤 HP:0002858
  • 口面裂 HP:0000202
  • 卵巢纤维瘤 HP:0010618
  • 斜视 HP:0000486
  • 内眦距过宽 HP:0000506

罕见 <4–1%2

  • 心脏纤维瘤 HP:0010617
  • 髓母细胞瘤 HP:0002885

近两年的全球研究 342L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

  • 2026-07
    Gorlin syndrome: Intracardiac tumor as initial manifestation
    Anales de pediatria · DOI · Europe PMC
  • 2026-07
    Endocrine Phenotypes and Hormonal Treatment in Meier-Gorlin Syndrome: Report of Two Cases and a Systematic Review of Literature
    Clinical endocrinology · DOI · Europe PMC
  • 2026-07综述
    Photodynamic Therapy for Keratinocytic Precancerous Lesions and Non-Melanoma Skin Cancer: A Narrative Review
    International journal of molecular sciences · DOI · Europe PMC
  • 2026-07
    PTCH1-Related Gorlin Syndrome: Expanding the Clinical and Molecular Spectrum in a Cohort of 11 Patients
    Klinische Padiatrie · DOI · Europe PMC
  • 2026-06
    Gorlin Syndrome: A Series of 10 Patients. Diagnosis, Follow-up, and Treatment from the Dermatological Consultation
    Clinical and experimental dermatology · DOI · Europe PMC
  • 2026-06病例报告
    Goltz-Gorlin Syndrome: A Case Report and Literature Review
    Cureus · DOI · Europe PMC
  • 2026-06开放获取
    Germline Whole-Genome Sequencing in Early-Onset Pediatric Solid Tumors Implicates Novel Risk Factors
    JCO precision oncology · DOI · Europe PMC
  • 2026-06开放获取
    Uncommon Presentation of Hidrocystoma in a 14-Year-Old Girl
    Diagnostics (Basel, Switzerland)
  • 2026-06综述开放获取
    Current and Future Perspectives in Mohs Micrographic Surgery for Non-Melanoma Skin Cancers: A Narrative Review
    Journal of clinical medicine
  • 2026-06开放获取
    Nevoid basal cell carcinoma syndrome with a novel PTCH1 variant: Genetic testing and literature review in a case report
    The Journal of international medical research
  • 2026-05综述开放获取
    Cancer Genetic Predisposition and Clinical Applications—A Narrative Review on Germline Genetic Testing, High-Risk Cancer Surveillance and Management
    Genes
  • 2026-05开放获取
    Germline Predisposition in Pediatric Central Nervous System Tumors: Insights from a Multigene Panel Study
    Oncology research · DOI · Europe PMC
  • 2026-05系统综述开放获取
    Efficacy and safety of vismodegib in periocular and orbital basal cell carcinoma: a systematic review and meta-analysis
    Frontiers in medicine · DOI · Europe PMC
  • 2026-05开放获取
    Pigmented Basal Cell Carcinoma Mimicking Melanoma in the Anal Area: A Case Report
    Clinical case reports · DOI · Europe PMC
  • 2026-05开放获取
    Integrated Molecular Profiling Improves Subtype Classification and Reveals Inherited Susceptibility in Medulloblastoma: Insights From a Real-World Cohort
    Cancer medicine · DOI · Europe PMC
  • 2026-04病例报告开放获取
    Basosquamous carcinoma in a patient with Freeman-Sheldon syndrome
    JAAD case reports · DOI · Europe PMC
  • 2026-04综述开放获取
    Photodynamic Therapy in Dermatology
    International journal of molecular sciences · DOI · Europe PMC
  • 2026-04综述开放获取
    Two inflammasomes as tumour markers for nonmelanocytic skin cancer: new hopes for early detection and targeted therapy
    Skin health and disease · DOI · Europe PMC
  • 2026-04综述开放获取
    The Epigenetic Landscape and Exposome of Non-Melanoma Skin Cancer: Mechanisms, Biomarkers, and Therapeutic Perspectives
    Genes · DOI · Europe PMC
  • 2026-04开放获取
    Photobleaching-based autofluorescence mapping reveals distinct patterns in sporadic basal cell carcinoma, nevoid basal cell carcinoma syndrome-associated basal cell carcinoma and squamous cell carcinoma
    Frontiers in medicine · DOI · Europe PMC

境外已获批用于本病的药物 0L2

欧盟与美国均未检索到已获批用于本病的药物。

已获孤儿药资格、尚未获批的在研药物（3 项）

孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。

  • patidegib欧盟2018-03-21
    Treatment of naevoid basal-cell carcinoma syndrome (Gorlin syndrome)
    官方记录
  • patidegib美国2017-07-19
    Treatment of nevoid basal cell carcinoma syndrome (Gorlin syndrome)
    官方记录
  • Recombinant adenovirus carrying the cDNA coding sequence for the human美国2017-07-19
    Treatment of basal cell carcinomas in individuals with basal cell nevus syndrome (BCNS), also known as Gorlin syndrome
    官方记录

数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

中国境外的在招试验 5L2

这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。

美国3荷兰2

共 5 项。

  • 招募中NCT06623201
    Blue-Light Photodynamic Therapy and Sonidegib for Multiple Basal Cell Carcinomas
    I 期 · 干预性 · 2024/10/07Nathalie Zeitouni
    美国
  • 招募中NCT06330350
    Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling
    观察性 · 2024/01/01Maastricht University Medical Center
    荷兰
  • 招募中NCT05463757
    Oral Hedgehog Inhibitors in the Treatment of Basal Cell Carcinoma in the Netherlands: a Prospective Registration Study
    观察性 · 2021/11/01Maastricht University Medical Center
    荷兰
  • 招募中NCT03050268
    Familial Investigations of Childhood Cancer Predisposition
    观察性 · 2017/04/06St. Jude Children's Research Hospital
    美国
  • 招募中NCT04569149
    Primordial Dwarfism Registry
    观察性 · 2008/03/11Nemours Children's Clinic
    美国

外部标识与链接

OrphanetOMIM:109400OMIM:620343MONDO:0007187GARD:7166ICD-10 C44.9ICD-11 LD2D.4ClinicalTrials.gov 检索

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
  • 中文病名：Orphanet 中文包，冻结于 2020-06-01
  • 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）