gms | German Medical Science

GMS German Plastic, Reconstructive and Aesthetic Surgery – Burn and Hand Surgery

Deutsche Gesellschaft der Plastischen, Rekonstruktiven und Ästhetischen Chirurgen (DGPRÄC)
Deutsche Gesellschaft für Verbrennungsmedizin (DGV)

ISSN 2193-7052

Back to life – Exoskeletal finger-prosthesis in a semiprofessional boxer – limitations of reconstructive surgery in symbrachydactyly

Zurück ins Leben – Epithesenversorgung bei einer semiprofessionellen Boxerin – Limitationen der rekonstruktiven Chirurgie bei der Symbrachydaktylie

Case Report

  • corresponding author Andreas Jokuszies - Department of Plastic, Hand- and Reconstructive Surgery, Hanover Medical School, Hanover, Germany
  • Christine Radtke - Department of Plastic, Hand- and Reconstructive Surgery, Hanover Medical School, Hanover, Germany
  • Monika Schwarze - Department of Rehabilitation Medicine, Hanover Medical School, Hanover, Germany
  • Catarina Hadamitzky - Department of Plastic, Hand- and Reconstructive Surgery, Hanover Medical School, Hanover, Germany
  • Christoph Gutenbrunner - Department of Rehabilitation Medicine, Hanover Medical School, Hanover, Germany
  • Peter M. Vogt - Department of Plastic, Hand- and Reconstructive Surgery, Hanover Medical School, Hanover, Germany

GMS Ger Plast Reconstr Aesthet Surg 2012;2:Doc05

DOI: 10.3205/gpras000007, URN: urn:nbn:de:0183-gpras0000076

Veröffentlicht: 23. April 2012

© 2012 Jokuszies et al.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.de). Er darf vervielfältigt, verbreitet und öffentlich zugänglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.


Abstract

We report an unusual case of an 18-year-old female semiprofessional boxer presenting with finger and nail deformity of the right hand after symbrachydactyly separation in childhood in whom we performed exoskeletal prosthesis for aesthetic reasons.

Because of the complexity of finger deformities and limitation of surgical interventions exoskeletal prosthesis were performed.

To evaluate a potential improvement of finger dexterity we performed the Nine Hole Peg Test. This is a simple and commercially available upper extremity functional assessment instrument. To evaluate the quality of life we performed the Short Form 36-Item Health Survey (SF-36), a questionnaire designed to examine a person’s perceived health status.

The prosthesis provided an excellent aesthetic result and improvement of self-confidence. No functional improvement could be obtained in this special case as it is described in patients with finger amputations.

Especially in women malformations of the hand and fingers are often associated with psychological impairments and social isolation. In this case and after surgery in childhood exoskeletal prostheses provide a useful option to improve the aesthetical outcome as well as quality of life.

Keywords: brachydactyly, syndactyly, congenital deformities, exoskeletal prostheses

Zusammenfassung

Wir berichten über eine 18-jährige semiprofessionelle Boxerin mit Nagel- und Fingerdeformitäten der rechten Hand nach operativer Korrektur einer Symbrachydaktylie in der Kindheit. Zur Verbesserung des Erscheinungsbildes der rechten Hand erfolgte die Anpassung von Fingerepithesen.

Die Anpassung der Epithesen erfolgte in diesem Fall aufgrund der limitierten chirurgischen Behandlungsoptionen und diente in erster Linie zur Verbesserung der Ästhetik und Steigerung des Selbstwertgefühls.

Zur objektiven Messung der Fingerfertigkeit setzten wir den Nine Hole Peg Test ein. Dieser Test ist ein einfaches und kommerziell erhältliches Instrument zur funktionellen Messung im Bereich der oberen Gliedmaßen.

Zur Erfassung der gesundheitsbezogenen Lebensqualität wendeten wir den SF-36 (Short Form 36-Item Health Survey) an. Dieser Test erfasst acht Dimensionen der subjektiven Gesundheit.

Entgegen der Beschreibung bei Patienten nach Fingeramputation konnte in diesem speziellen Fall keine Verbesserung der Fingerfertigkeit erzielt werden. Es zeigte sich jedoch eine deutlliche Verbesserung im Hinblick auf die Lebensqualität der Patientin.

Insbesondere Frauen sind durch fehlgebildete Hände und Finger infolge angeborener Fehlbildungen, aber auch nach Trauma häufig psychisch stark belastet, was nicht selten zu sozialer Isolation und Beeinträchtigung des Selbstwertgefühls führt.

Hier können Epithesen dazu beitragen, das ästhetische Erscheinungsbild der Hand deutlich zu verbessern und die Lebensqualität der Patienten zu steigern.

Schlüsselwörter: Brachydaktylie, Syndaktylie, kongenitale Fehlbildungen, Epithesen


Introduction

German pathologist Pol coined the term symbrachydactyly for the combination of short digits and syndactyly [1] The term symbrachydactyly describes different malformations of the hand and forearm that have a common pathogenetic background but different phenotypes. Mueller recognized that the primary reflects a reduction of the bony elements resulting in pathologic development of otherwise normally configured tissue [2]. The reduction begins in the middle phalanges (brachy-mesophalangia) and proceeds proximally. The middle phalanx may be absent (hypophalangia).

Mueller described the basic idea of a teratologic sequence according to the sequential involvement including fingers and metacarpals. This sequence was used by Blauth and Gekeler for their classification [3]. These authors further subclassified this continuous sequence into four groups with regard to the morphology and several aspects of surgical treatment.

Symbrachydactyly is a rare clinical feature and may occur as an isolated finding or as part of ectodermal dysplasia syndromes. Timing and type of surgery must be related to the particular digits involved and the degree of completeness and complexity of webbing [4]. Its incidence varies from 1:40,000 to 0.34:10,000 [5], [6].

Bilateral affection is found in 6.9% of the cases [7].

Here we present a unique case of congenital short-finger type symbrachydactyly of exclusively the right hand being separated in childhood and resulting in multiple finger deformities with concomitant nail deformities. The context with psychological strain and limitations of reconstructive surgery and the benefit of exoskeletal prosthesis in hereditary finger deformities regarding self-confidence and social reintegration must be emphasized.


Case report

An 18-year-old patient with congenital and unilateral symbrachydactyly presented in our clinic asking for possibilities of surgical intervention and aesthetical improvement of the right hand. The patient revealed a history of multiple syndactyly separations in childhood. The left dominant hand is regulary developed. Malformations of the feet or further congenital skeletal abnormalities were not observed. The clinical presentation was associated with an enormous psychological strain. The patient is an active local boxing champion. Problems included incomplete fist clenching and rare use of the right hand because of limited range of motion (Figure 1 [Fig. 1]). Moreover, the patient revealed a history of psychological problems, fear of social exclusion as well as a failed attempt of suicide were reported.

While clinical examination of the hands, the left hand presented normal in contrast to the right hand with shortening and hypoplasia of phalanges 2–5 (Figure 2 [Fig. 2]).

The fingernails displayed hypoplasia to various extent. The deformed nail plates had an irregular shape. No other involvement of structures with ectodermal origin were found. The deformity of the hand had been present since birth and previous trauma was denied. The patient reported that none of her siblings or parents had similar changes. The clenching of the fist was incomplete with a reduced grip strength. Active flexion in the metacarpal joints was up to 90º possible with crossing of index and middle finger. Even if thumb opposition was possible without limitations, the finger coordination was impaired. The performed x-ray examinations revealed missing proximal and distal interphalangeal joints of the second and third fingers with significant shortening and hypoplasia of the fingers. The fourth and fifth fingers were dysplastic and angulation of the distal interphalangeal joints was noted as well as missing proximal interphalangeal joints. The distal phalanx of the fourth finger was deviated towards the ulnar side and the distal phalanx of the little finger was deviated radially. The articular ends of the bones forming the distal interphalangeal joint of the little finger were irregular with reduced joint space limiting the range of movement (Figure 3 [Fig. 3]). The right thumb presented without pathological findings. Although this patient presented with a severe impairment of hand function she is able to pursue a very successful boxing career. Due to retarded and incomplete development of bony structures, a correction osteotomy combined with an arthrodesis was not indicated at this time, because of uncertain functional outcome and a potential risk for instability and pseudarthrosis. However, psychological problems of the patient with the deformed appearance of her hand and her resulting strong desire for aesthetic correction prompted us to offer a non-surgical intervention as exoskeletal prostheses. We referred the patient to an experienced orthopedic technician. After fitting of the prostheses the patient was extremely satisfied with the aesthetical appearance even if no functional improvement could be obtained (Figure 4 [Fig. 4]).

The quality of life was evaluated after treatment using the Short Form 36-Item Health Survey (SF-36), a questionnaire designed to examine a person’s perceived health status [8], [9]. Seven of the eight scales representing different health concepts show scores above the average normative German sample (Figure 5 [Fig. 5]). The scales “Role limitations because of physical health problems”, “Bodily pain”, “Role limitations because of emotional role” and “General health perceptions” reached the maximum of the possible 100 points. “Social functioning”, “General mental health” and “Vitality” show scores above the average population in this age group (Table 1 [Tab. 1]). Only “physical functioning” is reported by the patient as reduced with a score of 70 in contrast to 95. 29 (±25.92) in the comparison group. Due to the initial diagnosis this findings could be expected. To further investigate the improvement of finger coordination by the prostheses we additionally performed the nine hole PEG-Test.

In this test the patient has to grasp nine pegs from a cavity and must bring them into a nine hole plate one after another. This is followed by removing them in the same way while time is being stopped.

The patient had to perform this with both hands beginning with the left dominant hand, which took her 19 sec. In comparison she performed the test with the mutilated hand without any prostheses within 34 sec. According to the finger deformities she adapted very well to her handicap gaining a good function.

Performing the test with the prostheses it took her 1 min. 14 sec. In addition to the expected improvement of function as stated by Schäfer we could not demonstrate this in our patient even if she had a sufficient length of her mutilated fingers allowing a stabile prostheses fitting [10].

Therefore we assume that exoskeletal prostheses do not provide a functional improvement in this specific case of hereditary finger deformities but an improvement of the aesthetic appearance. This is of great importance for the patient’s self confidence especially for women and when working in a public environment. In our case the patient ultimately gained self-confidence and integrated extremely well back into day-to-day social life and school. Furthermore socioeconomic costs are reduced by preventing her from further psychological impairments. This is of special interest when regarding the health insurance and payment regularities of the highly expensive exoskeletal prostheses which in most cases cannot be afforded by the patients. Up to now one has to demonstrate their benefit for hand function if meeting of costs is desired.


Discussion

Symbrachydactyly is a rare clinical diagnosis and its etiology is still unknown. It can be part of a syndrome such as Poland’s syndrome or occur isolated as in the presented case.

Syndactyly and Brachydactyly may also present as isolated entities.

Brachydactyly was recently described as an autosomal dominant disease caused by mutations in the ROR2 gene referred to as brachydactyly type B. Here, truncating mutations lead to a severe form of the disease, which is characterized by terminal deficiency of fingers and toes [11]. Other rare deformities include Coffin-Siris syndrome with maldevelopment of phalangeal bones and nails [12]. Brachydactylies can be classified according to existing literature [13]. A case of a congenital bilateral hypoplasia and aplasia of the toenails with corresponding phalanx dysplasia was described by Seitz and Hamm [14].

Syndactyly is the most common congenital hand anomaly and thought to happen about once in every 2,000 to 2,500 births [4]. Unilateral and bilateral cases are equally counted and the gender distribution is male to female 2:1 [4]. As an isolated anomaly, syndactyly is always inherited as an autosomal dominant disorder [4].

The significant growth of the hand in the early years leads to a rapid increase in skeletal length which demands an early separation of the digits to allow unimpeded growth. Although early surgery was performed in our patient brachydactyly, hypoplasia of the fingers and aplasia of the interphalangeal joints led to functional and aesthetical impairment. Nevertheless the patient adapted well to her handicap being a box champion.

Therefore improvement of the aesthetical and functional aspect was a central element of the treatment strategy and exoskeletal finger-prostheses were successful engineered and fitted. According to the classification of silicone finger-prostheses type IIb finger-prostheses were performed in our patient [10].

The indication for this prostheses are amputations and hereditary finger anomalies including the proximal interphalangeal joint and a line 0–1.5 cm distal from that joint [10].

The expected functional improvement could not be obtained in this specific case due to aplastic and irregular shaped interphalangeal joints.

Silicone provides an excellent stability and adjustment due to its elasticity and adhesion properties.

Furthermore type IIb finger-prostheses provide a high functionality and an optimal transfer of the grip strength.

Although promising research in tissue engineering demonstrates the suitability of nanofibrous polylactide scaffolds for engineering of patient-specific, anatomically shaped digits [15], exoskelatal finger-prosthesis represent a useful option to improve the aesthetical and functional outcome as well quality of life in patients with amputations and congenital anomalies of the fingers.


Conclusion

Although a functional improvement after prosthesis fitting could not be obtained in this specific case of a female box champion with congenital finger anomalies we could improve the aesthetical aspect of the fingers and hereby quality of life.

Future studies will therefore have to investigate and prove the functional benefit by exoskeletal prostheses in patients with various finger amputation levels and congenital finger deformities not only to assure the meeting of costs but also to gain acceptance for finger prosthesis as part of a complex rehabilitation process in which the social reintegration and integrity of the body are further matters of concern.


Notes

Competing interests

All authors disclose any financial and personal relationships with other people or organisations that could inappropriately influence (bias) the work. Examples of potential conflicts of interest include employment, consultancies, stock ownership, honoraria, paid expert testimony, patent applications/registrations, and grants or other funding.

Protection of patients’ rights to privacy

The patient agrees with the publication in the present form and has given her consent.

Authorship

Andreas Jokuszies and Christine Radtke contributed equally to this work.


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