- 21 例临床确诊 KTS（PIK3CA 相关过度生长谱系）的肌肉骨骼病理：18 例纵向随访 + 3 例恶性间叶肿瘤会诊。
- 骨科病损分机械性过度生长、血管畸形与软组织/伤口相关；关节内病变可拟似血友病性关节病（含铁血黄素性滑膜炎、软骨破坏）。
- 会诊 3 例含 2 例血管肉瘤；鉴别：血友病性关节病、弥漫型腱鞘巨细胞瘤、非综合征性血管畸形、终末期破坏性关节病。
收录范围：PubMed 英文摘要及中文翻译（abstract-only）。原文为订阅制（Ovid/LWW；Unpaywall / EuropePMC 暂无开放全文），未采集全文、图表。
摘要
Klippel-Trénaunay 综合征（KTS）是一种罕见的先天性血管–过度生长障碍，属于更广义的 PIK3CA 相关过度生长综合征谱系。尽管其临床、影像学与骨科表现已有充分描述，KTS 相关病理的组织学谱系仍特征化不足。本文回顾了 21 例临床确诊 KTS 患者的临床病理所见，包括 18 例有纵向临床随访者，以及 3 例罕见恶性间叶性肿瘤会诊病例。病例来自机构病理与临床数据库，并复习了可用的苏木精–伊红染色切片及辅助检查。队列含男性 11 例、女性 10 例。在 18 例有临床随访者中，12 例有肢体长度不等或肢体不对称性过度生长，9 例有记录的深部血管畸形，4 例有关节内/滑膜畸形，10 例在 18 岁前接受了初次骨科评估或干预。骨科病损聚集为与机械性过度生长相关、与血管畸形相关，以及与软组织/伤口相关的并发症。组织学所见包括浅表和/或深部慢流血管畸形、溃疡与肉芽组织、含铁血黄素沉积的反应性滑膜，以及破坏性出血性关节病。关节内病变再现类似血友病性关节病的模式，表现为含铁血黄素性滑膜炎、乳头状滑膜增生，以及进行性关节破坏伴关节软骨丧失、暴露的软骨下骨破坏与重塑，均可归因于长期关节内出血。3 例会诊病例显示恶性间叶性肿瘤，包括 2 例血管肉瘤。识别这些模式对病理医师评估已知或疑似 KTS 患者的标本尤为重要，尤其当所见拟似血友病性关节病、弥漫型腱鞘巨细胞瘤、非综合征性血管畸形和/或终末期破坏性关节病时。
- 21 clinically established KTS cases (PIK3CA-related overgrowth): 18 with longitudinal follow-up + 3 malignant mesenchymal consults.
- Orthopedic morbidity: overgrowth-, vascular malformation-, and soft tissue/wound-related; intra-articular disease can mimic hemophilic arthropathy.
- Consults included 2 angiosarcomas; DDx: hemophilic arthropathy, diffuse-type TGCT, nonsyndromic vascular malformation, end-stage arthropathy.
Scope: PubMed abstract only. The article is subscription-only (Ovid/LWW; no open full text via Unpaywall/EuropePMC yet), so full text, figures and tables were not collected.
Abstract
Klippel-Trénaunay syndrome (KTS) is a rare congenital vascular-overgrowth disorder within the broader spectrum of PIK3CA-related overgrowth syndromes. Although clinical, radiologic, and orthopedic manifestations are well described, the histologic spectrum of KTS-associated pathology remains under-characterized. Clinicopathologic findings from 21 patients with clinically established KTS were reviewed, including 18 with longitudinal clinical follow-up and 3 consultation cases of rare malignant mesenchymal neoplasms. Cases were identified from institutional pathology and clinical databases, and available hematoxylin and eosin-stained sections and ancillary studies were reviewed. The cohort included 11 males and 10 females. Among the 18 clinically followed patients, 12 had limb length discrepancy or asymmetric limb overgrowth, 9 had documented deep vascular malformations, 4 had intra-articular/synovial malformations, and 10 underwent initial orthopedic evaluation or intervention before age 18. Orthopedic morbidity clustered into mechanical overgrowth-related, vascular malformation-related, and soft tissue/wound-related complications. Histologic findings included superficial and/or deep slow-flow vascular malformations, ulceration and granulation tissue, hemosiderin-laden reactive synovium, and destructive hemorrhagic arthropathy. Intra-articular disease recapitulated a hemophilic arthropathy-like pattern, with hemosiderotic synovitis, papillary synovial hyperplasia, and progressive joint destruction with loss of articular cartilage, exposed subchondral bone destruction and remodeling, all attributable to long-standing intra-articular hemorrhage. Three consultation cases showed malignant mesenchymal neoplasia, including 2 angiosarcomas. Recognition of these patterns is important for pathologists evaluating specimens from patients with known or suspected KTS, particularly when findings mimic hemophilic arthropathy, diffuse-type tenosynovial giant cell tumor, nonsyndromic vascular malformation, and/or end-stage destructive arthropathy.