Nishimura G, Nishimura J
Department of Radiology, Dokkyo University School of Medicine, Tochigi, Shimotsuga-gun, Japan.
Am J Med Genet. 1997 Aug 8;71(2):167-71.
We report on a Japanese girl with multiple cranial hyperostoses and a cardiac tumor, both of which manifested in early childhood. Unique juxtasutural lesions characterized the cranial findings, including a chain of almost symmetrical osseous protuberances involving the frontozygomatic and frontoparietal junctions, and discrete bony bumps on the right occipitoparietal junction and left temporo-occipital junction. These lesions histologically consisted of thickened mature bone intervened with sparse fibrous tissues, mimicking osteoma. The cardiac mass remained pathologically unknown, but was shown to have fatty elements on magnetic resonance imaging (MRI). The patient showed no evidence of gnathic hyperostoses, ophthalmological abnormalities, skin lesions, or other visceral abnormalities, which ultimately precluded known hamartomatous syndromes with craniofacial hyperostoses, such as Gardner and Proteus syndromes. Yet regional Proteus syndrome could not be completely excluded. The craniofacial deformity as a sequel of hyperostoses in our patient superficially resembled that of X-linked calvarial hyperostosis; however, the vacuolated histiocytes that characterized the hyperostotic lesions were not found in our patient. The present disorder may represent a hitherto unknown hamartomatous syndrome.
我们报告了一名患有多处颅骨骨质增生和心脏肿瘤的日本女孩，这两种病症均在幼儿期出现。独特的缝旁病变是颅骨检查结果的特征，包括一系列几乎对称的骨质突起，累及额颧和额顶交界处，以及右枕顶交界处和左颞枕交界处的离散骨块。这些病变在组织学上由增厚的成熟骨组织和稀疏的纤维组织相间组成，类似骨瘤。心脏肿块的病理情况尚不清楚，但在磁共振成像（MRI）上显示有脂肪成分。患者没有颌骨骨质增生、眼科异常、皮肤病变或其他内脏异常的迹象，这最终排除了已知的伴有颅面骨质增生的错构瘤综合征，如加德纳综合征和普洛透斯综合征。然而，局部普洛透斯综合征不能完全排除。我们患者骨质增生后遗症导致的颅面畸形表面上类似于X连锁颅骨骨质增生；然而，在我们的患者中未发现作为骨质增生性病变特征的空泡化组织细胞。目前的病症可能代表一种迄今未知的错构瘤综合征。
