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Macrodactyly - options and outcomes

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Journal of Hand Surgery (European Volume)
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Macrodactyly −− options and outcomes

J. Hardwicke, M. A. A. Khan, H. Richards, R. M. Warner and R. Lester
J Hand Surg Eur Vol published online 26 June 2012
DOI: 10.1177/1753193412451232

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451232
2012
JHS0010.1177/1753193412451232Hardwicke et al.Journal of Hand Surgery (European Volume)

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The Journal of Hand Surgery

Macrodactyly — options and outcomes (European Volume)

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J. Hardwicke, M. A. A. Khan, H. Richards, DOI: 10.1177/1753193412451232
jhs.sagepub.com
R. M. Warner and R. Lester
Children’s Hand and Upper Limb Service, Department of Plastic Surgery,
Birmingham Children’s Hospital NHS Foundation Trust, Birmingham, UK

Abstract
We report the outcomes of 32 patients diagnosed with macrodactyly. The average age at presentation was 46
months and there was an equal distribution across the sexes, although there was a male predominance in the
upper limb and female predominance in the lower limb. There were 20 cases of upper limb macrodactyly and
13 cases affecting the lower limb. Multiple digits were more commonly affected than isolated digits, with an
average of 2.5 digits affected. Static disease required significantly fewer operations than progressive disease.
The need for repeated procedures must be highlighted in cases of progressive macrodactyly. In the vast
majority of cases the functional and cosmetic outcome is good, with good patient acceptance.

Keywords
Congenital, hand, macrodactyly, surgery, outcomes, complications

Date received: 30th July 2011; revised: 23rd February 2012; accepted: 21st May 2012

Introduction
Macrodactyly is a rare congenital disorder of over-
growth affecting the digits of the upper or lower limb
(Barsky, 1967). The condition represents 0.9% of all
congenital anomalies of the upper limb (Flatt, 1994),
and macrodactyly of the foot has an incidence of
1/18 000 (Kowtharapu et al., 2009). Worldwide there
have been only a few reports of large series of mac-
rodactyly (Barsky, 1967; Chen et al., 1997; Ishida and
Ikuta, 1998; Kotwal and Farooque, 1998; Minguella
and Cusi, 1992; Wu et al., 2008) (Table 1), and UK
reports are limited to single cases (Greiss and
Williams, 1991; Norman-Taylor and Mayou, 1994).
The aetiology is largely unknown, although it is
hypothesized that it is a nerve-stimulated pathology
with abnormal neural control in the sensory distri-
bution of a peripheral nerve (Inglis, 1950; Kelikian,
1974; Turra et al., 1998). True macrodactyly is a
hamartomatous enlargement of all mesenchymal
elements of the fingers or toes (Figures 1 and 2).
The observed natural history distinguishes two types
of macrodactyly, either static, growing commensu-
rately with the hand/foot, or progressive, growing
faster than the rest of the limb (Barsky, 1967). Upton
(2005) described four types of macrodactyly: Type I
is macrodactyly with lipofibromatosis of a nerve,
either of a static or progressive subtype; Type II is
macrodactyly associated with neurofibromatosis;
Type III has associated hyperostosis; and type IV is
associated with hemihypertrophy. It can also be
associated with Beckwith-Wiedemann and Proteus
syndromes (Wagreich, 2001). Although not true
macrodactyly, arteriovenous malformations (AVM)
may present as enlargement of elements of the
fingers and toes, and can be treated in a similar
manner to macrodactyly (Kasser, 2006).
Surgical management often involves a form of
debulking of bone and/or soft tissue, but due to the
variety of presentation, paediatric hand surgeons
need a wide range of techniques at their disposal. The
goals of surgery are to reduce distress by control or
reduction of size, whilst maintaining sensibility and
function. Such techniques include skin and subcuta-
neous resection, neurolysis and nerve resection, epi-
physiodesis, arthrodesis, osteotomy, and amputation
(Flatt, 1994).
Psychological distress can be severe, and school-
aged ridicule is likely because macrodactyly of the
fingers may be difficult to conceal (Ghavami, 2007).
Large series highlighting the surgical management of
macrodactyly are few, and there is limited informa-
tion on the surgical and psychosocial outcome of
Corresponding author:
Dr Joseph Hardwicke, The Old School House, 6 Church Street,
Netherseal, Derbyshire, DE12 8DF, UK
Email: hardwickej@doctors.co.uk

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2 The Journal of Hand Surgery (Eur) 0(0)

Table 1.  Published reports of macrodactyly affecting the upper and lower limbs with case numbers of 10 or more.

Author Year of publication Country Number of patients, n Patients included in

follow-up, n
Our series 2012 UK 41 32
Wu et al. 2008 China 73 28
Ishida and Ikuta 1998 Japan 23 23
Kotwal and Farooque 1998 India 23 23
Chen et al. 1997 Taipei 16 16
Minguella and Cusi 1992 Spain 16 16
Barsky 1967 Worldwide 64 N/A

N/A = not applicable.

Figure 2.  Surgical debulking of macrodactyly of the lower

Figure 1.  Macrodactyly of the upper limb, affecting the left limb, affecting the right third toe. (a) Pre-operative image.
ring finger. (a) Pre-operative image. (b) Post-debulking Note the previous surgical scar from debulking procedure.
procedure. (b) Post-operative image after amputation of the third ray.

macrodactyly and its treatment. Our Children’s Hand
and Upper Limb Service, based at a regional children’s
hospital, treats patients diagnosed with macrodactyly
of the upper and lower limb. We present a series of 32
cases of true macrodactyly.
Methods
A retrospective audit of patients diagnosed with mac-
rodactyly was carried out. Patients were identified
from clinical coding and operating theatre records,
and medical case notes were examined. Exclusion
criteria were: patients diagnosed with macrodactyly
who were less 2 years of age or greater than 18 years
of age on 1 January 2011; enlarged digits secondary
to AVMs; unavailable medical records.
Outcomes were analyzed using a postal question-
naire and clinical assessment. Due to the wide
age-range of patients affected, age-specific outcome
questionnaires were selected to assess function,
as well as patient satisfaction, expectations, and
attitudes. Macrodactyly affecting the upper limb was
assessed using the Disability of the Arm, Shoulder
and Hand (DASH) questionnaire (Institute for Work

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Hardwicke et al. 3
and Health, 2012) (for patients 16–18 years of age to
complete) and our own experimental Reach Out ques-
tionnaire. Questionnaires were age-adjusted: they
were completed by parents or guardians of children
aged 2–4 years or 5–9 years; young people aged 10–15
years completed the questionnaires themselves.
Macrodactyly affecting the lower limb was
assessed using the Pediatric Outcomes Data Collec-
tion Instrument (PODCI; American Academy of
Orthopaedic Surgeons/Pediatric Orthopedic Society
of North America, 2012). Parents or guardians of
children aged 2–9 years completed this instrument;
young people aged 10–18 years completed it in addi-
tion to a parent/carer-reported questionnaire. As a
supplement to the PODCI, shoe sizes and difficulty in
purchasing shoes that fitted well were also investi-
gated. Questionnaires were sent by post. After 4
weeks, nonresponders were contacted by telephone
and a questionnaire re-sent, if requested. If contact
details were not available or correct, the patient was
excluded from the questionnaire analysis. Clinical
assessment was done within the first post-operative
year, with gross assessment of function, sensibility,
and cosmesis, in conjunction with discussion with
the parents/carers and child.
Averages are expressed as mean values unless
otherwise stated. Parametric data were compared
using a two-tailed unpaired Student’s t-test, and
nonparametric data with a Mann–Whitney U-test.
Contingency tables were examined using Fisher’s
exact test. Statistical significance was considered at
a probability of p < 0.05.
Results
In total, 41 patients diagnosed with macrodactyly
were identified between 1993 and 2010. Medical case
notes were unavailable for four patients and two
patients were over 18 years of age at the time of audit.
Of the remaining 36 patients, four patients were diag-
nosed with macrodactyly secondary to AVMs and were
subsequently excluded, resulting in 32 patients being
carried forward in to the final analysis. Other patholo-
gies included neurolipomatous macrodactyly (n = 27),
syndromic associations (tuberous sclerosis, gigan-
tism, Proteus syndrome) (n = 4), and macrodactyly
secondary to neurofibromatosis (n = 1) (Figure 3).
Thirty-two patients were included in the final audit,
including one patient with macrodactyly of the upper
and lower limbs (total of 33 affected limbs).
The average age at presentation was 46 months,
and there was an equal distribution across the sexes,
although there was a male predominance in the
upper limb (male:female = 1:0.66), and female
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Figure 3.  Clinical subtype of digital enlargement.
predominance in the lower limb (male:female = 1:1.6).
There were 20 cases of upper limb macrodactyly and
13 cases affecting the lower limb. The right side was
affected in 17 cases, the left in 16 cases. There was no
significant difference in the distribution of macrodac-
tyly with respect to laterality or limb affected (p >
0.05). The midline digit was affected most commonly
overall, with the medial distribution being more com-
mon in both the upper and lower limb than the lateral
(Figure 4). Multiple digits were more commonly
affected than isolated digits, with an average of 2.5
digits affected. Only five cases involved isolated digits.
Multiple digits were more common on the foot than
the hand. If multiple digits were involved they were
usually adjacent.
Surgical management was selected for 26 cases,
with the remainder managed conservatively. Eleven
cases of lower limb macrodactyly were operated
upon, whilst 16 cases of upper limb disease were
treated surgically. All of those treated conservatively
had the static form of the disease. Progressive dis-
ease was noted in 14 cases and was more common in
the lower limb than the upper limb, but did not reach
significance. Eight of 13 cases of lower limb macro-
dactyly were progressive compared with six of 20
cases in the upper limb. The average age at the first
operation was 62 months. Those operated upon had
an average 2.5 operations in total (range 1–6; Figure 5).
Static disease required significantly fewer operations
(p < 0.01) than progressive disease (a mean of 1.8 and
3.1 operations, respectively). Eighty-eight procedures
were done in 66 operative episodes. The range of pro-
cedures is shown in Figure 6. There was no significant
difference in the number of operations in relation to
4 The Journal of Hand Surgery (Eur) 0(0)
Figure 4.  Clinical distribution of macrodactyly in the (a) lower and (b) upper limb.
Figure 5. Number of procedures in cases with surgical
management of macrodactyly.
upper or lower limb distribution. Mean follow-up was
64 (range 6–158) months.
There was a response rate to the postal question-
naires of 16 cases after initial distribution and tele-
phone reminder. There was no significant difference
in outcomes (functional, cosmetic, psychosocial)
between those treated surgically or conservatively.
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The results are normalized and summarized in Table 2.
Although the mean shoe size difference was less
than one size (median 0.5 of a shoe size), four out of
seven responders stated that they always had dif-
ficulty finding shoes that fit, with the remainder
sometimes having difficulty.
The clinical outcome, as judged by the operating
surgeon after discussion with both patient and
family, was classed as “better” in 30 cases, “same”
in one case, and “worse” in one case. Sixteen com-
plications were recorded from the 66 operations.
The most common post-operative complication was
superficial wound infection in nine cases, followed
by skin necrosis (two cases), wound breakdown (two
cases), hypertrophic scarring (two cases), and one
case of locking of a joint.
Discussion
This is the largest single-surgeon cohort of macro-
dactyly patients with recorded follow-up to date. It is
also the first to consider patients’ views of the
outcomes of surgery. Although other authors have
recorded range of movements and digital circumfer-
ence as outcome measures (Ishida and Ikuta, 1998)
we feel that the patient’s views of function and
appearance are as important, if not more so.
A male preponderance has been reported (Barsky,
1967), but in this study we found an equal sex
Hardwicke et al. 5

Figure 6.  Surgical techniques used in the management of macrodactyly.

Table 2.  Summary of data collected using postal questionnaires.

Questionnaire Source Target group Age group Parameters Mean limitation§

examined
DASH Institute for Work Macrodactyly of 16–18 years† 1) Functional 20
and Health; Toronto, the upper limb disability
Canada
Reach Out Birmingham Children’s Macrodactyly of 2–4 years* 1) Body functions 17
  Hospital Hand and the upper limb 5–9 years* 2) Activity limitations  4
Upper Limb Service; 10–15 years†
  Birmingham, UK 3) Activity  1
participations
  4) Environment and 15
attitudes
  5) Satisfaction 35
  6) Future 11
expectations
PODCI Pediatric Orthopedic Macrodactyly of 2–9 years* 1) Transfer and basic  2
Society of North the lower limb 10–18 years† mobility
  America; Rosemont, 2) Sports and 14
USA physical function
  3) Pain/comfort 14
  4) Happiness 21
  5) Global functioning  8
scale
  6) Shoe size‡ N/A

*Parents/guardian completed.
†Patient completed.
‡Additional nonstandard question.
§Normalized value, where 0 represents no limitation/best outcome, and 100 represents total limitation/worst outcome.
DASH = Disability of the Arm, Shoulder and Hand; N/A = not applicable; PODCI = Pediatric Outcomes Data Collection Instrument.

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6 The Journal of Hand Surgery (Eur) 0(0)
distribution. Due to the small numbers involved,
significant data are limited in this study. The distri-
bution of macrodactyly of the foot is in keeping with
that previously described (Kalen et al., 1988;
Minguella and Cusi, 1992; Temtamy and Rogers,
1976): the second ray is most commonly involved,
then the third, followed by the first, fourth, and fifth.
Although macrodactyly has been described to be more
common in the territory of the median nerve (Wu
et al., 2008), this study has shown it to be more
common in the anatomically medial aspect of the
limb, and in the case of the upper limb, midline with
a slight preponderancy to the ulnar border.
This condition demonstrates the need for consid-
erable flexibility from a surgeon who has to consider
the use of a wide variety of procedures and tech-
niques. The various operative interventions outlined
in this study are similar to those described in other
series (Chen et al., 1997; Ishida and Ikuta, 1998;
Minguella and Cusi, 1992; Upton, 2005). In terms of
principles, the senior author (RL) currently always
uses a lateral approach to each individual digit, tack-
ling one side at a time with an interval of a few
months between each operative procedure. Using
this approach, bone and soft tissues surgery can be
combined. Palmar or plantar soft tissue debulking
can be carried out using a variety of incisions. In par-
ticular, there does not seem to be any problem with
the scar when using a longitudinal plantar incision.
The surgeons’ role in the management of this con-
dition is to review and support the child through the
growing years and alleviate some of the distress
caused by this incurable condition. This requires the
development of a close relationship, initially with the
parents/carers of the child, and gradual involvement of
the child in the decision-making process with regards
to the surgical technique and timing of interventions.
The patient-reported outcome from the postal
questionnaire was from a diverse cohort, with different
age-adjusted measures, and thus, strong conclusions
should not and have not been made.
The senior surgeon’s outcome verdict was based
on an overall combination of function, sensibility,
growth arrest, and cosmesis, after discussion with
the parents/carers and child. It was interesting to
note that the difficulty in finding adequately fitting
shoes in the cases of lower limb macrodactyly seemed
disproportionate to the actual reported difference in
shoe size. This is because the length of the toes is
only a part of the overall increase in the size of the
foot, in that there is nearly always an associated
increase in the depth and width of the foot due to the
proximal enlargement of the bone and soft tissues of
the forefoot. There was a wide range in self-reported
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outcomes: the better outcomes were related to func-
tion and activity participation, which could be assessed
by the senior surgeon, whilst the poorer outcomes
were related to happiness and satisfaction, which
were only revealed with self-reporting. The single
case of poor outcome was related to progressive
macrodactyly of the toes requiring multiple surgical
procedures, complicated by skin necrosis. The psy-
chological well-being of these patients must be
considered on a par with the clinical outcome and
may not be easy to elicit in the clinic.
In summary, for the surgeon treating patients with
macrodactyly, the development of an ongoing good
relationship with the parents/carers and child is as
vital as being able to use a wide range of surgical
techniques. The need for repeated procedures must
be highlighted in cases of progressive macrodactyly.
The eventual decision to carry out a ray amputation
should not be considered a failure in management, as
it may take many years and several operations to
arrive jointly at this decision, which can transform the
quality of life for these patients. In cases of progres-
sive macrodactyly, the option for amputation may be
raised early on in the treatment of the disease, espe-
cially if numerous operations and hospital admissions
are anticipated, thus allowing both patient and family
to make an informed decision based upon the surgi-
cal options available. In the vast majority of cases of
surgically treated macrodactyly, the functional and
cosmetic outcome will be acceptable to the patient.
Conflict of interests
None declared.
Funding
This research received no specific grant from any funding
agency in the public, commercial, or not-for-profit sectors.
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