Advertisement

Congenital difference of the hand and foot: Pediatric macrodactyly

  • Author Footnotes
    1 The authors Xiao Fang Shen and Konstantinos Gasteratos have contributed equally to the paper and are both first co-authors.
    Xiao Fang Shen
    Footnotes
    1 The authors Xiao Fang Shen and Konstantinos Gasteratos have contributed equally to the paper and are both first co-authors.
    Affiliations
    Soochow University, Suzhou 215000, Jiangsu Province, China

    Department of Orthopaedic Surgery, Children's Hospital of Soochow University, China
    Search for articles by this author
  • Konstantinos Gasteratos
    Correspondence
    Corresponding author.
    Affiliations
    Graduate School of Molecular Medicine, Feinstein Institutes for Medical Research, Northwell Health, Manhasset, New York
    Search for articles by this author
  • Georgia-Alexandra Spyropoulou
    Affiliations
    Department of Plastic and Reconstructive Surgery, Papageorgiou General Hospital of Thessaloniki, Greece
    Search for articles by this author
  • Fei Yin
    Affiliations
    Department of Pediatric Orthopaedic Surgery, Wuxi Ninth People's Hospital, Affiliated to Soochow University, Wuxi 214062, Jiangsu Province, China
    Search for articles by this author
  • Yong Jun Rui
    Correspondence
    Corresponding author.
    Affiliations
    Department of Hand Surgery, Wuxi Ninth People's Hospital, Affiliated to Soochow University, Wuxi, Jiangsu 214062, China
    Search for articles by this author
  • Author Footnotes
    1 The authors Xiao Fang Shen and Konstantinos Gasteratos have contributed equally to the paper and are both first co-authors.

      Summary

      Background

      Macrodactyly is a very rare congenital difference that affects hands and feet with significant developmental and psychological implications. Macrodactyly is attributed to a somatic mutation in PIK3CA, a component of the mTOR pathway-related overgrowth disorders. Other medical conditions have been associated with macrodactyly (e.g., neurofibromatosis and Proteus syndrome). A thorough investigation of the presence of these conditions should be undertaken by the multidisciplinary team.
      The aim of this study is to summarize the main clinical characteristics and associated conditions, with an emphasis on diagnosis and surgical treatment options.

      Materials and Methods

      We present several clinical cases after a retrospective chart review of macrodactyly cases and a comprehensive literature review.

      Results

      The indications for surgery include peripheral compressive neuropathies (e.g., carpal tunnel syndrome), grotesque enlargement interfering with function, psychosocial distress due to the deformity, and macrodystrophic lipomatosis with proximal upper limb involvement. The main surgical treatment options are categorized as follows: digit reduction (e.g., soft tissue debulking, skeletal shortening/ terminalization, Barsky procedure, and Tsuge technique), limitation of growth (digital nerve stripping and epiphysiodesis), and correction of deviation (wedge or angulation osteotomy, arthrodesis, Millesi procedure for thumb macrodactyly correction, toe-to-hand transfer, ray resection, and combination of bony reduction and soft tissue debulking).

      Conclusions

      Macrodactyly correction requires surgical experience and an individualized approach. Treatment is primarily surgical; however, efforts are being made to delineate the root cause of macrodactyly and provide nonoperative management.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Journal of Plastic, Reconstructive & Aesthetic Surgery
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Thorne F.L.
        • Posch J.L.
        • Mladick R.A.
        Megalodactyly.
        Plast Reconstr Surg. 1968; 41: 232-239
        • Sobel E.
        • Giorgini R.J.
        • Potter G.K.
        • Schwartz R.D.
        • Chieco T.M.
        Progressive pedal macrodactyly surgical history with 15 year follow-up.
        Foot Ankle Int. 2000; 21: 45-50
        • Wu J.
        • Tian G.
        • Ji Y.
        • Higgins J.P.
        • Lee W.P.A
        Clinical characteristics of 90 macrodactyly cases.
        J Hand Surg Am. 2020; 45 (982.e1–982.e5)
        • Kotwal P.P.
        • Farooque M.
        Macrodactyly.
        J Bone Jt Surg Br. 1998; 80: 651-653
        • Cerrato F.
        • et al.
        Presentation and treatment of macrodactyly in children.
        J Hand Surg Am. 2013; 38: 2112-2123
        • Ofodile F.A.
        Macrodactyly in blacks.
        J Hand Surg Am. 1982; 7: 566-568
      1. Institute, N. C. & National Cancer Institute. Macrodactyly. Definitions (2020) doi:10.32388/2pid5t.

        • Ezaki M.
        • Baek G.H.
        • Horii E.
        • Hovius S.
        IFSSH scientific committee on congenital conditions.
        J Hand Surg Eur. 2014; 39: 676-678
      2. Themes, U. F. O. Embryology and classification of congenital upper limb anomalies. https://plasticsurgerykey.com/embryology-and-classification-of-congenital-upper-limb-anomalies/(2016).

        • Swanson A.B.
        A classification for congenital malformations of the hand.
        NJ Bull Acad Med. 1964; 10: 166-169
        • Tonkin M.A.
        Classification of congenital anomalies of the hand and upper limb.
        J Hand Surg Eur. 2017; 42: 448-456
        • Pellerin D.
        • Martelli H.
        • Latouche X.
        • Couly G.
        • Gasnier F.
        Congenital soft tissue dysplasia: a new malformation entity and concept.
        Prog Pediatr Surg. 1989; 22: 1-29
        • Evans D.
        The care of congenital hand anomalies 2E Adrian E. Flatt. Quality Medical Publishing, St Louis, 1994. ISBN 0-942219-35-X. Price £66.
        J Hand Surg. 1994; 19 (–799): 799
        • Waters P.M.
        • Bae D.S.
        Pediatric Hand and Upper Limb Surgery: A Practical Guide.
        Lippincott Williams & Wilkins, 2012
        • Gupta A.
        • Burke C.S.
        Macrodactyly.
        in: Abzug J.M. Kozin S.H. Zlotolow D.A. The Pediatric Upper Extremity. Springer, New York2015: 369-388
        • Roach E.S.
        • Steve Roach E
        Macrodactyly–nerve fibrolipoma.
        Neurocutaneous Disord. 2004; : 323-326https://doi.org/10.1017/cbo9780511545054.043
        • Moore B.H.
        Macrodactyly and associated peripheral nerve changes.
        JBJS. 1942; 24: 617-631
        • Inglis K.
        Local gigantism (a manifestation of neurofibromatosis): its relation to general gigantism and to acromegaly; illustrating the influence of intrinsic factors in disease when development of the body is abnormal.
        Am J Pathol. 1950; 26: 1059-1083
        • McCarroll H.R.
        Clinical manifestations of congenital neurofibromatosis.
        JBJS. 1950;
        • Rios J.J.
        • et al.
        Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.
        Hum Mol Genet. 2013; 22: 444-451
        • Wolfe S.W.
        • Pederson W.C.
        • Kozin S.H.
        • Cohen M.S.
        Green's Operative Hand Surgery E-Book.
        Elsevier Health Sciences, 2016
        • Silverman T.A.
        • Enzinger F.M.
        Fibrolipomatous hamartoma of nerve. A clinicopathologic analysis of 26 cases.
        Am J Surg Pathol. 1985; 9: 7-14
        • Abela
        • Abela
        Osteoid osteoma as a cause of macrodactyly.
        J Can Res Updates. 2013; https://doi.org/10.6000/1929-2279.2013.02.03.9
        • Boo-Chai K.
        Macrodactyly in tuberous sclerosis.
        Plast Reconstr Surg. 1996; 97: 875
        • Sun B.
        • et al.
        Activating PIK3CA mutation promotes adipogenesis of adipose-derived stem cells in macrodactyly via up-regulation of E2F1.
        Cell Death Dis. 2020; 11: 600
        • Venot Q.
        • et al.
        Targeted therapy in patients with PIK3CA-related overgrowth syndrome.
        Nature. 2018; 558 (568, E6–E6 (2019)): 540
        • Barsky A.J.
        Macrodactyly.
        J Bone Jt Surg Am. 1967; 49: 1255-1266
        • Al-Qattan M.M.
        Lipofibromatous hamartoma of the median nerve and its associated conditions.
        J Hand Surg Br. 2001; 26: 368-372
        • Stern P.J.
        • Nyquist S.R
        Macrodactyly in ulnar nerve distribution associated with cubital tunnel syndrome.
        J Hand Surg Am. 1982; 7: 569-571
        • Kavecan I.
        • et al.
        Pachydermodactyly: a rare type of macrodactyly as a dermatological sign of compulsive behavior and repetitive minor trauma; a case report and review of the literature.
        Iran Red Crescent Med J. 2018; 20
        • Gupta S.K.
        • Sharma O.P.
        • Sharma S.V.
        • Sood B.
        • Gupta S.
        Macrodystrophia lipomatosa: radiographic observations.
        Br J Radiol. 1992; 65: 769-773
        • Turkington J.R.A.
        • Grey A.C
        MR imaging of macrodystrophia lipomatosa.
        Ulster Med J. 2005; 74: 47-50
        • Yüksel A.
        • Yagmur H.
        • Kural B.S
        Prenatal diagnosis of isolated macrodactyly.
        Ultrasound Obstet Gynecol. 2009; 33: 360-362
        • Chang C.H.
        • Kumar S.J.
        • Riddle E.C.
        • Glutting J
        Macrodactyly of the foot.
        J Bone Jt Surg Am. 2002; 84: 1189-1194
        • Dennyson W.G.
        • Bear J.N.
        • Bhoola K.D
        Macrodactyly in the foot.
        J Bone Jt Surg Br. 1977; 59: 355-359
        • Southard E.J.
        • et al.
        Macrodystrophia lipomatosa of the foot: A case report of MRI and histologic findings including pacinian corpuscle abnormalities.
        JBJS Case Connect. 2021; 11
        • Ho C.A.
        • Herring J.A.
        • Ezaki M
        Long-term follow-up of progressive macrodystrophia lipomatosa. A report of two cases.
        J Bone Jt Surg Am. 2007; 89: 1097-1102
        • Kalb J.P.
        • Suarez D.A.
        • Herrera A.M.
        Bilateral Macrodactyly of the halluces in an adolescent girl corrected with shortening osteotomies of the first metatarsal and the phalangeal bones: A case report.
        JBJS Case Connect. 2018;
        • Brooks B.
        • Lehman E.P.
        Bone changes in Recklinghausenʼs neurofibromatosis.
        J Nerv Ment Dis. 1926; 64: 184
        • Minguella J.
        • Cusi V.
        Macrodactyly of the hands and feet.
        Int Orthop. 1992; 16: 245-249
        • Turra S.
        • Santini S.
        • Cagnoni G.
        • Jacopetti T.
        Gigantism of the foot: our experience in seven cases.
        J Pediatr Orthop. 1998; 18: 337-345
        • Bendon C.L.
        • Giele H.P.
        Macrodactyly in the setting of a plexiform schwannoma in neurofibromatosis type 2: Case report.
        J Hand Surg Am. 2013; 38: 740-744
        • Posner M.A.
        • McMahon M.S.
        • Desai P.
        Plexiform schwannoma (neurilemmoma) associated with macrodactyly: a case report.
        J Hand Surg Am. 1996; 21: 707-710
        • Mullins A.M.
        Multiple lower limb osteophytosis with macrodactyly: A case report.
        Foot Ankle Int. 1996; 17: 283-285
        • Matsubara M.
        • et al.
        Carpal tunnel syndrome due to fibrolipomatous hamartoma of the median nerve in Klippel-Trénaunay syndrome. A case report.
        J Bone Jt Surg Am. 2009; 91: 1223-1227
        • Siegall E.
        • Ratner J.
        Carpal tunnel syndrome associated with Klippel-Trénaunay-Weber syndrome: A case report.
        JBJS Case Connect. 2015; 5: e47
        • Temtamy S.A.
        • Rogers J.G.
        Macrodactyly, hemihypertrophy, and connective tissue nevi: Report of a new syndrome and review of the literature.
        J Pediatr. 1976; 89: 924-927
        • Wiedemann H.R.
        • et al.
        The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.
        Eur J Pediatr. 1983; 140: 5-12
        • Inserm & INSERM
        Tall stature-scoliosis-macrodactyly of the great toes syndrome.
        Definitions. 2020; https://doi.org/10.32388/a1b1du
        • Abzug J.M.
        • Kozin S.H.
        • Zlotolow D.A.
        The Pediatric Upper Extremity.
        Springer, New York2014
        • Ezaki M.
        • Beckwith T.
        • Oishi S.N.
        Macrodactyly: decision-making and surgery timing.
        J Hand Surg Eur. 2019; 44: 32-42
        • Topoleski T.A.
        • Ganel A.
        • Grogan D.P
        Effect of proximal phalangeal epiphysiodesis in the treatment of macrodactyly.
        Foot Ankle Int. 1997; 18: 500-503
        • Golyana S.I.
        • Tikhonenko T.I.
        • Govorov A.V.
        • Zaytseva N.V
        Microsurgical toe-to-hand transfer in children with macrodactyly of the hand.
        Pediatr Traumatol Orthop Reconstr Surg. 2018; 6: 32-39
        • Yushan M.
        • et al.
        Precise resection of macrodactyly under assistance of three-dimensional reconstruction technology: A case report.
        J Foot Ankle Surg. 2020; 59: 125-127