title: Light microscopic, immunohistochemical, and ultrastructural findings in congenital fibular aplasia or hypoplasia (FAH).
abstract: 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.
authors.affiliation: Institute of Pathology, RWTH Aachen University, Germany. bhermanns@ukaachen.de
authors.forename: Benita
authors.initials: B
authors.lastname: Hermanns-Sachweh
authors.forename: Anne
authors.initials: A
authors.lastname: Stemper
authors.forename: Bernd
authors.initials: B
authors.lastname: Klosterhalfen
authors.forename: Jan
authors.initials: J
authors.lastname: Senderek
authors.forename: Reinhard
authors.initials: R
authors.lastname: Büttner
authors.forename: Michael
authors.initials: M
authors.lastname: Weber
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D015415:Biomarkers / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D019902:Chondrocytes / Q000648:ultrastructure; D024043:Collagen Type II / Q000378:metabolism; D024142:Collagen Type VI / Q000378:metabolism; D005109:Extracellular Matrix / Q000648:ultrastructure; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D051445:Fibrocartilage / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure; D005360:Fibula / Q000002:abnormalities* / Q000378:metabolism / Q000648:ultrastructure; D005532:Foot Deformities, Congenital / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D010011:Osteocytes / Q000648:ultrastructure
chemical_list: D015415:Biomarkers; D024043:Collagen Type II; D024142:Collagen Type VI