Hermanns-Sachweh Benita, Stemper Anne, Klosterhalfen Bernd, Senderek Jan, Büttner Reinhard, Weber Michael
Institute of Pathology, RWTH Aachen University, Germany.
Pediatr Dev Pathol. 2005 Jul-Aug;8(4):474-82. doi: 10.1007/s10024-005-0031-x. Epub 2005 Oct 5.
Congenital aplasia or hypoplasia of the fibula (FAH) is a rare malformation that is defined by a partial or complete absence of the fibular bone. Etiology and pathogenesis are unknown and the precise morphology of the tissue cord replacing the malformed fibula has not been well described. Therefore, tissue cord was examined in 8 patients with FAH. Light microscopic, immunohistochemical, and electron microscopic investigations showed a core of embryonic cartilage with collagen II and VI expressions surrounded by connective tissue. Although collagen II expression is typical for chondroid differentiation, collagen VI reactivity is normally seen in articular cartilage and tendon-like fibrocartilaginous tissue but is absent in hyaline cartilage. Further ultrastructural analyses by electron microscopy supported these findings. The histomorphologic changes correspond to the histologic findings of Papenbrock et al. (2000, Mech Dev 92:113-123) who produced a congenital malformation in transgenic mice that resembled FAH by overexpression of Hox c11.
先天性腓骨发育不全或发育不良（FAH）是一种罕见的畸形，其定义为腓骨部分或完全缺失。病因和发病机制尚不清楚，替代畸形腓骨的组织索的精确形态也未得到充分描述。因此，对8例FAH患者的组织索进行了检查。光镜、免疫组化和电镜检查显示，胚胎软骨核心表达II型和VI型胶原，周围为结缔组织。虽然II型胶原表达是软骨样分化的典型表现，但VI型胶原反应通常见于关节软骨和肌腱样纤维软骨组织，而透明软骨中不存在。电子显微镜的进一步超微结构分析支持了这些发现。组织形态学变化与Papenbrock等人（2000年，《Mechanisms of Development》92:113 - 123）的组织学发现一致，他们通过过度表达Hox c11在转基因小鼠中产生了类似FAH的先天性畸形。
