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What is This?
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- associated with hemihypertrophy. It can also be
growth affecting the digits of the upper or lower limb associated with Beckwith-Wiedemann and Proteus
(Barsky, 1967). The condition represents 0.9% of all syndromes (Wagreich, 2001). Although not true
congenital anomalies of the upper limb (Flatt, 1994), macrodactyly, arteriovenous malformations (AVM)
and macrodactyly of the foot has an incidence of may present as enlargement of elements of the
1/18 000 (Kowtharapu et al., 2009). Worldwide there fingers and toes, and can be treated in a similar
have been only a few reports of large series of mac- manner to macrodactyly (Kasser, 2006).
rodactyly (Barsky, 1967; Chen et al., 1997; Ishida and Surgical management often involves a form of
Ikuta, 1998; Kotwal and Farooque, 1998; Minguella debulking of bone and/or soft tissue, but due to the
and Cusi, 1992; Wu et al., 2008) (Table 1), and UK variety of presentation, paediatric hand surgeons
reports are limited to single cases (Greiss and need a wide range of techniques at their disposal. The
Williams, 1991; Norman-Taylor and Mayou, 1994). goals of surgery are to reduce distress by control or
The aetiology is largely unknown, although it is reduction of size, whilst maintaining sensibility and
hypothesized that it is a nerve-stimulated pathology function. Such techniques include skin and subcuta-
with abnormal neural control in the sensory distri- neous resection, neurolysis and nerve resection, epi-
bution of a peripheral nerve (Inglis, 1950; Kelikian, physiodesis, arthrodesis, osteotomy, and amputation
1974; Turra et al., 1998). True macrodactyly is a (Flatt, 1994).
hamartomatous enlargement of all mesenchymal Psychological distress can be severe, and school-
elements of the fingers or toes (Figures 1 and 2). aged ridicule is likely because macrodactyly of the
The observed natural history distinguishes two types fingers may be difficult to conceal (Ghavami, 2007).
of macrodactyly, either static, growing commensu- Large series highlighting the surgical management of
rately with the hand/foot, or progressive, growing macrodactyly are few, and there is limited informa-
faster than the rest of the limb (Barsky, 1967). Upton tion on the surgical and psychosocial outcome of
(2005) described four types of macrodactyly: Type I
is macrodactyly with lipofibromatosis of a nerve,
Corresponding author:
either of a static or progressive subtype; Type II is Dr Joseph Hardwicke, The Old School House, 6 Church Street,
macrodactyly associated with neurofibromatosis; Netherseal, Derbyshire, DE12 8DF, UK
Type III has associated hyperostosis; and type IV is Email: hardwickej@doctors.co.uk
Table 1. Published reports of macrodactyly affecting the upper and lower limbs with case numbers of 10 or more.
macrodactyly and its treatment. Our Children’s Hand criteria were: patients diagnosed with macrodactyly
and Upper Limb Service, based at a regional children’s who were less 2 years of age or greater than 18 years
hospital, treats patients diagnosed with macrodactyly of age on 1 January 2011; enlarged digits secondary
of the upper and lower limb. We present a series of 32 to AVMs; unavailable medical records.
cases of true macrodactyly. Outcomes were analyzed using a postal question-
naire and clinical assessment. Due to the wide
age-range of patients affected, age-specific outcome
Methods questionnaires were selected to assess function,
A retrospective audit of patients diagnosed with mac- as well as patient satisfaction, expectations, and
rodactyly was carried out. Patients were identified attitudes. Macrodactyly affecting the upper limb was
from clinical coding and operating theatre records, assessed using the Disability of the Arm, Shoulder
and medical case notes were examined. Exclusion and Hand (DASH) questionnaire (Institute for Work
Figure 4. Clinical distribution of macrodactyly in the (a) lower and (b) upper limb.
*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.
distribution. Due to the small numbers involved, outcomes: the better outcomes were related to func-
significant data are limited in this study. The distri- tion and activity participation, which could be assessed
bution of macrodactyly of the foot is in keeping with by the senior surgeon, whilst the poorer outcomes
that previously described (Kalen et al., 1988; were related to happiness and satisfaction, which
Minguella and Cusi, 1992; Temtamy and Rogers, were only revealed with self-reporting. The single
1976): the second ray is most commonly involved, case of poor outcome was related to progressive
then the third, followed by the first, fourth, and fifth. macrodactyly of the toes requiring multiple surgical
Although macrodactyly has been described to be more procedures, complicated by skin necrosis. The psy-
common in the territory of the median nerve (Wu chological well-being of these patients must be
et al., 2008), this study has shown it to be more considered on a par with the clinical outcome and
common in the anatomically medial aspect of the may not be easy to elicit in the clinic.
limb, and in the case of the upper limb, midline with In summary, for the surgeon treating patients with
a slight preponderancy to the ulnar border. macrodactyly, the development of an ongoing good
This condition demonstrates the need for consid- relationship with the parents/carers and child is as
erable flexibility from a surgeon who has to consider vital as being able to use a wide range of surgical
the use of a wide variety of procedures and tech- techniques. The need for repeated procedures must
niques. The various operative interventions outlined be highlighted in cases of progressive macrodactyly.
in this study are similar to those described in other The eventual decision to carry out a ray amputation
series (Chen et al., 1997; Ishida and Ikuta, 1998; should not be considered a failure in management, as
Minguella and Cusi, 1992; Upton, 2005). In terms of it may take many years and several operations to
principles, the senior author (RL) currently always arrive jointly at this decision, which can transform the
uses a lateral approach to each individual digit, tack- quality of life for these patients. In cases of progres-
ling one side at a time with an interval of a few sive macrodactyly, the option for amputation may be
months between each operative procedure. Using raised early on in the treatment of the disease, espe-
this approach, bone and soft tissues surgery can be cially if numerous operations and hospital admissions
combined. Palmar or plantar soft tissue debulking are anticipated, thus allowing both patient and family
can be carried out using a variety of incisions. In par- to make an informed decision based upon the surgi-
ticular, there does not seem to be any problem with cal options available. In the vast majority of cases of
the scar when using a longitudinal plantar incision. surgically treated macrodactyly, the functional and
The surgeons’ role in the management of this con- cosmetic outcome will be acceptable to the patient.
dition is to review and support the child through the
growing years and alleviate some of the distress Conflict of interests
caused by this incurable condition. This requires the None declared.
development of a close relationship, initially with the
parents/carers of the child, and gradual involvement of
Funding
the child in the decision-making process with regards
to the surgical technique and timing of interventions. This research received no specific grant from any funding
The patient-reported outcome from the postal agency in the public, commercial, or not-for-profit sectors.
questionnaire was from a diverse cohort, with different
age-adjusted measures, and thus, strong conclusions References
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