Abstract
The bone tumor is classified into two types: primary and secondary. The incidence of primary bone tumor is 2/100,000 to 3/100,000, accounting for about 2% of all the tumors, and it can also be classified into tumor-like lesions, benign type and malignant type. The primary bone tumor is uncommon during the childhood; the commonest type is osteochondroma, followed by chondroma, osteoma, and ossifying fibroma. Generally, osteochondroma grows and becomes large within the initial 10 years, and the development process will end due to the closure of growth plates during the puberty. Generally, it takes a pedicled shape or wide basal shape, the difference in size is great, it is located at the endochondral bone of the long bone, it is commoner in the lower limb bones than in the upper limb bones, and there is a tendency of symmetric occurrence. It is the commonest at the lowest segment of the femur and the upper end of the tibia, followed by the upper end of the humeral bone, the lower end of the radial bone, the lower end of the tibia, and the upper end of the calf bone, it rarely occurs at the short bones and the irregular bones, the occurrence is occasionally seen in the spinal column, spinous process is often involved, and sometimes it can be complicated by other limb deformities. During the first onset, the pediatric patient generally shows no obvious symptoms, so it is often found during the childhood and puberty. Most of the patients visit a doctor due to deformities, hard painless tumor is palpable locally or in multiple sites, and when the tumor squeezes the surrounding nerves and vessels, pain and joint movement disorder can be induced.
References
Schmale GA, Conrad EU, Raskind WH. The natural history of hereditary multiple exostoses. J Bone Joint Surg Am. 1994;76:986–92.
Legeai-Mallet L, Munnich A, Maroteaux P, Le Merrer M. Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin Genet. 1997;52:12–6.
Stickens D, Clines G, Burbee D, Ramos P, Thomas S, Hogue D, Hecht JT, Lovett M, Evans GA. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet. 1996;14:25–32. doi:10.1038/ng0996-25.
Raskind WH, Conrad EU III, Matsushita M, Wijsman EM, Wells DE, Chapman N, Sandell LJ, Wagner M, Houck J. Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. Hum Mutat. 1998;11:231–9.
Legeai-Mallet L, Margaritte-Jeannin P, Lemdani M, Le Merrer M, Plauchu H, Maroteaux P, Munnich A, Clerget-Darpoux F. An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses. Hum Genet. 1997;99:298–302.
Jager M, Westhoff B, Portier S, Leube B, Hardt K, Royer-Pokora B, Gossheger G, Krauspe R. Clinical outcome and genotype in patients with hereditary multiple exostoses. J Orthop Res. 2007;25:1541–51.
Vogel T, Skuban T, Kirchhoff C, et al. Dysplasia epiphysealis hemimelica of the distal ulna: a case report and review of the literature. Eur J Med Res. 2009;14:272–6.
Rao SB, Roy DR. Dysplasia epiphysealis hemimelica. Upper limb involvement with associated osteochondroma. Clin Orthop Relat Res. 1994;307:103–9.
Shapiro F, Simon S, Melvin J. Hereditary multiple exostoses. J Bone Joint Surg. 1979;61:815–23.
Ehrenfried A. Multiple cartilaginous exostoses—hereditary deforming chondrodysplasia. A brief report on a little known disease. J Am Med Assoc. 1915;64:1642–6.
Khoo RN, Peh WCG, Guglielmi G. Clinics in diagnostic imaging (124). Singapore Med J. 2008;49(10):841–5.
Casal D, Mavioso C, Mendes M-M, et al. Hand involvement in Ollier disease and Maffucci syndrome: a case series. Acta Reumatol Port. 2010;35:375–8.
D’Angelo L, Massimi L, Narducci A, et al. Ollier disease. Childs Nerv Syst. 2009;25:647–53.
Costa J, Bogas M, Ribeiro A, et al. Multiple enchondromatosis: Ollier’s disease. Acta Reumatol Port. 2008;33:473–4.
Lewis RJ, Ketcham AS. Maffucci’s syndrome: functional and neoplastic significance. Case report and review of the literature. J Bone Joint Surg Am. 1973;55:1465–79.
Ribeiro C, Fernandes P, Reis FC. The Maffucci syndrome with axial bone lesions. A rare cause of low back pain. Acta Med Port. 1998;11:559–62.
Zwenneke Flach H, Ginai AZ, Wolter Oosterhuis J. Best cases from the AFIP. Maffucci syndrome: radiologic and pathologic findings. RadioGraphics. 2001;21:1311–6.
Wester U, Brandberg G, Larsson M, et al. Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy. Prenat Diagn. 2002;22:663–8.
Herman TE, Lee BCP, McAlister WH, et al. Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases. Pediatr Radiol. 2002;32:452–6.
Mayden Argo K, Toriello HV, Jelsema RD, et al. Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type. Ultrasound Obstet Gynecol. 1996;8:354.
Göllesa A, Stolzb P, Freyschmidtc J, et al. Trevor’s disease (dysplasia epiphysealis hemimelica) located at the hand: case report and review of the literature. Eur J Radiol. 2011;77:245–8.
Hensinger RN, Cowell HR, Ramsey PL, et al. Familial dysplasia epiphysealis hemimelica, associated with chondromas and osteochondromas. J Bone Joint Surg. 1974;56:1513–6.
Oestreich AE, Mitchell CS, Akeson JW. Both Trevor and Ollier disease limited to one upper extremity. Skelet Radiol. 2002;31:230–4.
DiCaprio MR, Enneking WF. Fibrous dysplasia. Pathophysiology, evaluation, and treatment. J Bone Joint Surg Am. 2005;87(8):1848–68.
Kokkalis ZT, Jain S, Sotereanos DG. Fibrous dysplasia around the elbow. J Shoulder Elb Surg. 2010;19:e6–11.
McCaffrey M, Letts M, Carpenter B. Osteofibrous dysplasia: a review of the literature and presentation of an additional 3 cases. Am J Orthop. 2003;32(10):479–86.
Sakamoto A, Oda Y, Iwamoto Y, et al. A comparative study of fibrous dysplasia and osteofibrous dysplasia with regard to GSa mutation at the Arg201 codon. J Mol Diagn. 2000;2:67–72.
Takaku M, Hashimoto I, Nakanishi H, et al. Calcifying aponeurotic fibroma of the elbow: a case report. J Med Investig. 2011;58:159–61.
Kramer JM, Doscher JC, Ruvinsky M. Calcifying aponeurotic fibroma with bone islands exhibiting hematopoiesis: a case report and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010;109:878–82.
Robbin MR, Murphey MD, Thomas Temple H, et al. Imaging of musculoskeletal fibromatosis. RadioGraphics. 2001;21:585–600.
Onak-Kandemir N, Ege-Gul A, Karadayi N. Calcifying aponeurotic fibroma: a case report. Acta Orthop Traumatol Turc. 2008;42(2):145–7.
Keasbey LE. Juvenile aponeurotic fibroma (calcifying fibroma). A distinctive tumor arising in the palms and soles of young children. Cancer. 1953;6:338.
Morii T, Yoshiyama A, Morioka H, et al. Clinical significance of magnetic resonance imaging in the preoperative differential diagnosis of calcifying aponeurotic fibroma. J Orthop Sci. 2008;13:180–6.
Song YS, Lee IS, Kim HT, et al. Fibrous hamartoma of infancy in the hand: unusual location and MR imaging findings. Skelet Radiol. 2010;39:1035–8.
Seguier-Lipszyc E, Hermann G, Kaplinski C, et al. Fibrous hamartoma of infancy. J Pediatr Surg. 2011;46:753–5.
Kang G, Suh Y-L, Han J, et al. Fibrous hamartoma of infancy: an experience of a single institute. J Korean Surg Soc. 2011;81:61–5.
McGowan J IV, Smith CD, Maize J Jr, et al. Giant fibrous hamartoma of infancy: a report of two cases and review of the literature. J Am Acad Dermatol. 2011;64:579–86.
Wang W. Plastic surgery science. Hangzhou: Zhejiang Science and Technology Press; 1999. p. 460–1.
Sorensen SA, Mulvihill JJ, Nielsen A, et al. Long-term follow-up of von Recklinghausen neurofibromatosis. N Engl J Med. 1986;314:1010–5.
Riccardi V. von Recklinghausen neurofibromatosis. N Engl J Med. 1981;305:1617–27.
Wallace MR, Marchuk DA, Anderson LB, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science. 1990;249:181–6.
Mulvihill JJ. NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update. Ann Intern Med. 1900;113:39–52.
Gutmann DH, Collins FS. Recent progress toward understanding the molecular biology of von Recklinghausen neurofibromatosis. Ann Neurol. 1992;31(5):555–61.
Pollack IF, Mulvihill JJ. Neurofibromatosis 1 and 2. Brain Pathol. 1997;7:823–36.
Morris JA, Shochat S, Smith EI, et al. Biological variables in thoracic neuroblastoma: a Pediatric Oncology Group Study. J Pediatr Surg. 1995;30:296–303.
Franks LM, Bollen A, Seeger RC, et al. Neuroblastoma in adults and adolescents: an indolent course with poor survival. Cancer. 1997;79:2028–35.
Cotterill SJ, Pearson AD, Prichard J, et al. Clinical prognostic factors in 1277 patients with neuroblastoma: results of the European Neuroblastoma Study Group Survey 1982-1992. Eur J Cancer. 2000;36:901–8.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2017 Springer Nature Singapore Pte Ltd. and Zhejiang Science and Technology Publishing House
About this chapter
Cite this chapter
Xu, J., Chen, J., He, Q., Zhu, L., Yao, J. (2017). Congenital Tumor of the Hand and Upper Limb. In: Wang, W., Yao, J. (eds) Congenital Deformities of the Hand and Upper Limb. Plastic and Reconstructive Surgery. Springer, Singapore. https://doi.org/10.1007/978-981-10-5101-2_13
Download citation
DOI: https://doi.org/10.1007/978-981-10-5101-2_13
Published:
Publisher Name: Springer, Singapore
Print ISBN: 978-981-10-5100-5
Online ISBN: 978-981-10-5101-2
eBook Packages: MedicineMedicine (R0)