Patient at two years of age, showing right hand radial side macrodactyly with index finger clinodactyly.

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Arch Plast Surg Arch Plast Surg APS Archives of Plastic Surgery 2234-6163 2234-6171 The Korean Society of Plastic and Reconstructive Surgeons 26430647 4579187 10.5999/aps.2015.42.5.655 Images Segmental Hemihyperplasia-Related Macrodactyly with Congenital Renal Agenesis: A Hand Surgeon's Point of View da Costa João Nunes Matias Júlio Department of Plastic, Reconstructive and Maxillofacial Surgery, Hospital de Egas Moniz, Lisbon, Portugal. Correspondence: João Nunes da Costa. Department of Plastic, Reconstructive and Maxillofacial Surgery, Hospital de Egas Moniz, Rua Diogo de Silves, 35, 5.o Esq - 1400-107 Lisbon, Portugal. Tel: +35-1919828668, Fax: +35-1210432050, jlncost@gmail.com 9 2015 15 9 2015 42 5 655 658 17 2 2015 13 5 2015 01 6 2015 Copyright © 2015 The Korean Society of Plastic and Reconstructive Surgeons 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Hemihyperplasia is a clinical condition defined as an asymmetric enlargement of one side of the body, usually in the upper and lower extremities, head, trunk, and internal organs. It may affect the entire hemibody or be segmental, and can present in a unilateral or crossed manner. Hemihyperplasia has a calculated incidence of 1:86,000 newborns [1] and is usually sporadic, but some familial occurrences have been described. It can be associated with a syndrome or be isolated, the latter usually being a diagnosis of exclusion. When affecting the hand, hemihyperplasia may be accompanied with macrodactyly. Although there are authors that reserve the term "macrodactyly" solely for nonsyndromic, isolated digital overgrowth, it can also be used when associated with other pathologies, the most important to acknowledge being the Proteus syndrome, neurofibromatosis type 1, Klippel-Trénaunay-Weber syndrome, polyostotic fibrous dysplasia, Ollier disease, hemihyperplasia, hemangioma, Milroy disease, and Maffucci syndrome.

Macrodactyly is a rare disease affecting the hand and less frequently, the foot, with a calculated prevalence of 0.08 per 10,000 newborns. Macrodactyly is usually unilateral, with more than one finger affected, usually the second or the third [2]. Syndactyly may also be present.

Treatment options for macrodactyly include vigilance (in mild cases), soft tissue debulking, nerve stripping, epiphysiodesis, osteotomies and bone shortening procedures, and phalangectomy, and in selected cases, digital transposition, toe transfer, or amputation. The results of surgery are often unsatisfactory, particularly if the disease is progressive and recurrent deformity is frequent, with the need for multiple interventions. Nevertheless, surgery is required in many cases on functional and aesthetic grounds.

Renal involvement is known to be associated with overgrowth conditions including tumors [3] and some genitourinary anomalies, but very rarely with unilateral renal agenesis. We found only one case in our literature review, and it was associated with complete hemihyperplasia in a patient with a probably atypical form of the Klippel-Trénaunay-Weber syndrome [4]. Unilateral renal agenesis is defined as the one-sided congenital absence of renal tissue resulting from the failure of embryonic kidney formation. It has a calculated incidence of around 1:2,000 and is associated with musculoskeletal anomalies in 13% of cases [5]. To the best of our knowledge, no other cause of macrodactyly has been reported along with unilateral renal agenesis. Although a statistical possibility, it is extremely improbable that the association of both conditions (hemihypertrophy and unilateral renal agenesis) is coincidental.

Fig. 1 shows the right hand of a male child with segmental hemihyperplasia of the right forearm and hand, associated thenar muscular hyperplasia, and thumb and index finger macrodactyly, the latter with ulnar clinodactyly. The soft tissue volume of the right forearm is increased, although the radius and ulna length and diameter are similar on both sides, with no relevant loss of function. Congenital right renal agenesis was identified with echography and confirmed with a computed tomography (CT) scan (Fig. 2); right congenital dacryocystitis was also diagnosed. Genetic counseling could not establish a definite diagnosis, and the criteria for the Proteus syndrome were not met. No other members of the family were affected by similar or related symptoms. Throughout the years, the patient's left renal function and morphology have remained normal. A delay in language development was also identified as the child grew; the patient was referred to a speech therapist and showed improvement.

When the patient was less than two years of age, due to the rapid growth of the affected fingers, we opted for volume reduction of the thenar region and the index finger (with perineural dissection of the radial side), and epiphysiodesis with an associated closing wedge resection of the middle phalanx to correct the clinodactyly. The result was satisfactory during the first year, but then, again, there was overgrowth of the index finger with ulnar deviation, conditioning the obvious functional limitation. With time, the inability of the extension and flexion of the finger also worsened. At 4 years of age, the patient was recommended further surgery because of the extent of clinodactyly and hypertrophy. Again, we performed dermoadipose volume reduction with perineural dissection of the index finger and the thenar region, volumetric reduction of the muscle groups of the thenar region, correction of the index finger's clinodactyly with wedge osteotomy of the proximal phalanx (including the growth plate), and distal interphalangeal arthrodesis. The affected digital nerves (DI and DII) had a significantly larger caliber, and the musculature of the thenar region showed considerable hypertrophy, in contrast with a less marked adipose component (Fig. 3).

The patient is now 6 years old, and the longitudinal growth of the index finger seems to be under control (Figs. 4, 5). Clinodactyly correction was satisfactory, but ligament and tendon imbalance led to an impingement of the index finger over the third to the fifth fingers when the hand closed. The patient is left-handed but is able to perform a gross pinch with the right hand and uses this hand to perform some bimanual activities.

The literature shows that recurrence is very frequent in macrodactyly, and although there are many surgical options available, none have shown consistently good and reproducible results. Some authors defend that early amputation, particularly in the second digital ray, may lead to better functional results. Since our patient was only 6 years of age, and the finger size progression was moderate, we decided to wait for the growth of the remaining hand before embarking on more radical measures.

The question that remains is whether the carrying out of the epiphysiodesis of the proximal and middle phalanges was the reason that the index finger growth rate was not extreme, or whether it was independent of surgery. Nevertheless, we believe that an early approach can be recommended if any other problem exists, since it can justify surgery for reasons other than epiphysiodesis. In our case, it was the pronounced clinodactyly and thenar bulkiness, and the limited index finger function at the time of the second operation, which led us to perform distal interphalangeal arthrodesis. Some degree of success was attained two years after the last procedure. Thus far, the thumb function has been reasonable, although with a limitation of flexion; therefore, we have decided to continue with the regular follow-ups.

Symptomatic congenital nasolacrimal duct obstruction affects approximately 6% of otherwise healthy infants. Dacryocystitis may be uncommon, but given its incidence, we cannot honestly state that it is linked to the other problems reported and is not a coincidence. The same can be said about the delay in speech development.

We conclude that macrodactyly is a rare and difficult condition to treat, where the actual results often fall short of the desired ones. This is the second published case where hemihyperplasia is accompanied with unilateral renal agenesis and the first case where no other syndrome-related physical anomalies were found.

No potential conflict of interest relevant to this article was reported.

Parker DA Skalko RG Congenital asymmetry: report of 10 cases with associated developmental abnormalities Pediatrics 1969 44 584 589 5346637 Hardwicke J Khan MA Richards H Macrodactyly-options and outcomes J Hand Surg Eur Vol 2013 38 297 303 22736742 Hoyme HE Seaver LH Jones KL Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review Am J Med Genet 1998 79 274 278 9781907 Oren NC Vurucu S Karaman B Renal agenesis in a child with ipsilateral hemihypertrophy Pediatr Nephrol 2010 25 1751 1754 20407912 Westland R Schreuder MF Ket JC Unilateral renal agenesis: a systematic review on associated anomalies and renal injury Nephrol Dial Transplant 2013 28 1844 1855 23449343

Patient at two years of age, showing right hand radial side macrodactyly with index finger clinodactyly.

Volume rendering of a computed tomography scan showing the absence of the right kidney.

Perioperative view of the thenar musculature hyperplasia and digital nerve enlargement during the second surgery.

Patient at six years of age, showing right forearm and hand segmental hemihyperplasia.

X-ray at age six, with correction of clinodactyly and epiphysiodesis allowing the control of index finger overgrowth.