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Histopathological, Ultrastructural, and Immunohistochemical Findings in Radial Longitudinal Deficiency: A Prospective, Observational Study

Published:August 25, 2021DOI:https://doi.org/10.1016/j.jhsa.2021.07.004

      Purpose

      To report the histopathological, electron microscopic, and immunohistochemical findings of tissue samples obtained from patients with radial longitudinal deficiency (RLD) and investigate the contribution of abnormality in soft tissues as a secondary driver of deformity in RLD.

      Methods

      Specimens from radial-sided muscles and tendons were obtained at the time of surgery (either radialization or centralization) from 14 patients with 16 limbs affected with Bayne type 3 and type 4 RLD. The specimens were evaluated using light microscopy, electron microscopy, and immunohistochemical examination.

      Results

      Among the 16 frozen muscle specimens, 6 (37%) showed normal muscle, while 10 (63%) showed the presence of atrophic fibers. The 6 cases with normal muscle showed no abnormality in fiber type distribution. Six patients showed predominance of type 1 muscle fibers. None of the specimens had myofibroblasts; 4 of 16 specimens had mast cells, and 9 of 16 specimens showed the presence of platelet derived growth factor–positive cells. Features of myofibroblasts (the presence of basal lamina, intercellular junctions, or pinocytic vesicles) were not identified in any specimen on electron microscopy.

      Conclusions

      The histopathological, electron microscopic, and immunohistochemical findings, in particular the absence of myofibroblasts, in tissue samples obtained from patients with RLD, do not support the assumption of abnormality in soft tissues as a secondary driver of deformity in RLD.

      Clinical relevance

      This study provides a preliminary insight into a possible role of soft tissues in the development of the deformity in RLD.

      Key words

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      References

        • Petit J.L.
        Remarques sur un enfant nouveau-né, dont les bras étaient difformes.
        Mém Acad Roy Sci. 1733; 23: 1-22
        • Lourie G.M.
        • Lins R.E.
        Radial longitudinal deficiency. A review and update.
        Hand Clin. 1998; 14: 85-99
        • Geck M.J.
        • Dorey F.
        • Lawrence J.F.
        • Johnson M.K.
        Congenital radius deficiency: radiographic outcome and survivorship analysis.
        J Hand Surg Am. 1999; 24: 1132-1144
        • Tonkin M.A.
        • Tolerton S.K.
        • Quick T.J.
        • et al.
        Classification of congenital anomalies of the hand and upper limb: development and assessment of a new system.
        J Hand Surg Am. 2013; 38: 1845-1853
        • Skerik S.K.
        • Flatt A.E.
        The anatomy of congenital radial dysplasia. Its surgical and functional implications.
        Clin Orthop Relat Res. 1969; 66: 125-143
        • Nanchahal J.
        • Tonkin M.A.
        Pre-operative distraction lengthening for radial longitudinal deficiency.
        J Hand Surg Br. 1996; 21: 103-107
        • Sabharwal S.
        • Finuoli A.L.
        • Ghobadi F.
        Pre-centralization soft tissue distraction for Bayne type IV congenital radial deficiency in children.
        J Pediatr Orthop. 2005; 25: 377-381
        • Goldfarb C.A.
        • Murtha Y.M.
        • Gordon J.E.
        • Manske P.R.
        Soft-tissue distraction with a ring external fixator before centralization for radial longitudinal deficiency.
        J Hand Surg Am. 2006; 31: 952-959
        • Manske M.C.
        • Steffen J.
        • Goldfarb C.A.
        The effect of soft tissue distraction on the outcomes of centralization for radial longitudinal deficiency.
        J Hand Surg. 2013; 38: e20-e21
        • Damore E.
        • Kozin S.H.
        • Thoder J.J.
        • Porter S.
        The recurrence of deformity after surgical centralization for radial clubhand.
        J Hand Surg Am. 2000; 25: 745-751
        • Shariatzadeh H.
        • Jafari D.
        • Taheri H.
        • Mazhar F.N.
        Recurrence rate after radial club hand surgery in long term follow up.
        J Res Med Sci. 2009; 14: 179-186
        • Bayne L.G.
        • Klug M.S.
        Long-term review of the surgical treatment of radial deficiencies.
        J Hand Surg Am. 1987; 12: 169-179
        • Gailit J.
        • Marchese M.J.
        • Kew R.R.
        • Gruber B.L.
        The differentiation and function of myofibroblasts is regulated by mast cell mediators.
        J Invest Dermatol. 2001; 117: 1113-1119
        • Johnson M.A.
        • Polgar J.
        • Weightman D.
        • Appleton D.
        Data on the distribution of fibre types in thirty-six human muscles. An autopsy study.
        J Neurol Sci. 1973; 18: 111-129
        • Dastgir J.
        • Rutkowski A.
        • Alvarez R.
        • et al.
        Common data elements for muscle biopsy reporting.
        Arch Pathol Lab Med. 2016; 140: 51-65
        • Brooke M.H.
        • Engel W.K.
        The histographic analysis of human muscle biopsies with regard to fiber types. 4. Children’s biopsies.
        Neurology. 1969; 19: 591-605
        • Lexell J.
        • Sjöström M.
        • Nordlund A.S.
        • Taylor C.C.
        Growth and development of human muscle: a quantitative morphological study of whole vastus lateralis from childhood to adult age.
        Muscle Nerve. 1992; 15: 404-409
        • Bauer A.S.
        • Bednar M.S.
        • James M.A.
        Disruption of the radial/ulnar axis: congenital longitudinal deficiencies.
        J Hand Surg Am. 2013; 38 (quiz 2302): 2293-2302
        • Handelsman J.E.
        • Badalamente M.A.
        Neuromuscular studies in clubfoot.
        J Pediatr Orthop. 1981; 1: 23-32
        • Isaacs H.
        • Handelsman J.E.
        • Badenhorst M.
        • Pickering A.
        The muscles in club foot–a histological histochemical and electron microscopic study.
        J Bone Joint Surg Br. 1977; 59B: 465-472
        • Herceg M.B.
        • Weiner D.S.
        • Agamanolis D.P.
        • Hawk D.
        Histologic and histochemical analysis of muscle specimens in idiopathic talipes equinovarus.
        J Pediatr Orthop. 2006; 26: 91-93
        • Guth L.
        “Trophic” influences of nerve on muscle.
        Physiol Rev. 1968; 48: 645-687
        • Fukuhara K.
        • Schollmeier G.
        • Uhthoff H.K.
        The pathogenesis of club foot. A histomorphometric and immunohistochemical study of fetuses.
        J Bone Joint Surg Br. 1994; 76: 450-457
        • Shum D.T.
        • McFarlane R.M.
        Histogenesis of Dupuytren’s disease: an immunohistochemical study of 30 cases.
        J Hand Surg Am. 1988; 13: 61-67
        • Wang J.
        • Zohar R.
        • McCulloch C.A.
        Multiple roles of α-smooth muscle actin in mechanotransduction.
        Exp Cell Res. 2006; 312: 205-214
        • Desmoulière A.
        • Chaponnier C.
        • Gabbiani G.
        Tissue repair, contraction, and the myofibroblast.
        Wound Repair Regen. 2005; 13: 7-12
        • Zimny M.L.
        • Willig S.J.
        • Roberts J.M.
        • D’Ambrosia R.D.
        An electron microscopic study of the fascia from the medial and lateral sides of clubfoot.
        J Pediatr Orthop. 1985; 5: 577-581
        • Khan A.M.
        • Ryan M.G.
        • Gruber M.M.
        • Haralabatos S.P.
        • Badalamente M.A.
        Connective tissue structures in clubfoot: a morphologic study.
        J Pediatr Orthop. 2001; 21: 708-712