Orthopaedics & Traumatology: Surgery & Research 100 (2014) 251–254

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Case report

Soft-tissue necrosis complicating tibial osteotomy in a child with

Proteus syndrome

∗

T. Raboudi , S. Bouchoucha , B. Hamdi , R. Boussetta , W. Saied , C. Jalel , M. Smida

Service d’Orthopédie de l’Enfant et l’Adolescent, hôpital d’Enfants Béchir-Hamza de Tunis, Bab Saadoun, Tunis 1007, Tunisia

a r t i c l e i n f o

a b s t r a c t

Article history: Introduction: Proteus syndrome is a rare congenital hamartomatous disease frequently responsible for

Accepted 3 October 2013

musculoskeletal deformities. The results and complications of surgical treatment are not well docu-

mented owing to the scarcity of reported cases.

Keywords: Case report: The authors report a case of poor evolution of valgus proximal tibial osteotomy in a 6-year-

Hemi-hypertrophy

old girl with Proteus syndrome. The surgery was complicated by extensive deep wound necrosis exposing

Macrodactyly

the tibial bone, necessitating surgical excision, antibiotherapy and controlled wound healing. At 1 year

Genu varum

postoperatively, the deformity recurred.

Proteus syndrome

Discussion: The possibility of serious wound complications and of recurrence must be kept in mind when

operating on a limb deformity in patients with Proteus syndrome. Potential complications should be

taken into account in selecting the surgical correction technique: epiphysiodesis may be preferable to

osteotomy.

© 2014 Elsevier Masson SAS. All rights reserved.

1. Introduction supraorbital protuberance (Fig. 1). Orthopedically, there was trun-

cal imbalance toward the left. There was also macrodactyly of the

Proteus syndrome (PS) is a very rare congenital hamartomatous second and third fingers of the left hand and clinodactyly inducing

pathology featuring continuing excessive development of various a forked aspect (Fig. 2). The second and third fingers of the right

body parts [1], including severe musculoskeletal deformities and hand also showed slight macrodactyly.

progressive deterioration in the limbs and axial skeleton [2,3]. Examination of the knees found left genu varum and moderate

Surgery is frequently recommended to correct musculoskeletal genu recurvatum (Fig. 3), without soft-tissue trophic disorder or

deformities, and may consist in epiphysiodesis or osteotomy [4]; vascular abnormality.

however, due to the rarity of PS, results and complications are There were 3 angiomatous blemishes with long axes of a few

poorly known. centimeters on the back and abdomen.

We report a case of poor evolution of valgus tibial osteotomy in Plain spinal X-ray found asymmetric enlargement of the verte-

a 6-year-old girl with Proteus syndrome. bral bodies and pedicles (Fig. 4), predominating on the 12th lumbar

vertebra and inducing dorsolumbar scoliosis with severe thoracic

2. Case report left-convexity curvature (Fig. 4). There was also hypertrophy of the

cervical vertebral spinous processes.

A 6-year-old girl with no particular familial history was referred Lower-limb X-ray showed a dystrophic left proximal tibial

with progressively worsening left genu varum. Interview revealed growth plate (Fig. 5).

that a small left fronto-orbital protuberance and a skin blemish on Exploration was completed by CT, which found frontal bone

the back had been observed at birth. Her parents further reported hypertrophy corresponding to the facial protuberances. Given the

onset, at around 1 year of age, of a deformity of the left knee, an association of general and specific criteria as defined by Bieseker

increase in the volume of the facial protuberance, onset of truncal et al. [5], PS was diagnosed.

deformity and digital deformity of slow evolution. Left proximal tibial valgus osteotomy was indicated and per-

Clinical examination found craniofacial dysmorphism with formed under pneumatic tourniquet. The superior tibial approach

dolichocephaly, lengthened neck, protruding ears and bilateral was anterolateral. While performing the approach, we were

astonished by the poorly vascularized aspect of the soft tissue

and bone. The lateral closing-wedge valgus osteotomy was stabi-

∗ lized using 2 K-wires. Soft-tissue closure was performed without

Corresponding author. Tel.: +0021625435679.

E-mail address: raboudi [email protected] (T. Raboudi). tension and the lower limb was immobilized in a long-leg cast.

1877-0568/$ – see front matter © 2014 Elsevier Masson SAS. All rights reserved. http://dx.doi.org/10.1016/j.otsr.2013.10.016

252 T. Raboudi et al. / Orthopaedics & Traumatology: Surgery & Research 100 (2014) 251–254

Fig. 1. Frontal photograph showing supraorbital osseous protuberances, more pro- Fig. 3. Left genu varum.

nounced on the left side (hunched skull), and dolichocephaly.

Postoperative anticoagulation therapy was initiated due to the

risk of thromboembolitic complications in PS [6]. Immediate

postoperative course was simple and the patient was discharged at

2 days. Three weeks later, she came to emergency with sharp pain

in the operative site and a sweating aspect in the cast. The cast was

removed, to reveal extensive soft-tissue necrosis in the anterior

side of the limb, exposing the bone (Fig. 6). Emergency surgical

resection of the necrotic tissue and infected bone was associated

to stabilization of the osteotomy site by a circular external fixator

with general route antibiotics. The wound received local treatment

without soft-tissue closure. Healing was controlled by iterative

flat dressing. Evolution toward osteotomy site cover was very

gradual, over a period of 3 months, leaving stiff, adherent, umbil-

icated skin and persistent cutaneous fistula. The tibial osteotomy

consolidated, with recurrence of tibial deformity at 1 year.

Fig. 4. Asymmetric aspect of pedicles and vertebral bodies, especially on the

twelfth dorsal vertebra, causing thoracolumbar scoliosis with leftward convexity.

3. Discussion

PS involves deformity by excessive asymmetric growth of vari-

ous tissues: osseous, conjunctive and adipose [1]. The most famous

case of PS was John Merrick, also known as the Elephant Man, who

was long mistakenly thought to have had neurofibromatosis [7].

Temtamy and Rogers first described PS in 1976 [8], and Wiedman

et al. [9] coined the name “Proteus syndrome”, for the Greek god

able to change shape to escape his enemies.

PS is due to a somatic mosaic induced by mutation of the onco-

gene AKT1 that controls cell proliferation [10], activating growth in

cells including the mutation, resulting in tissue proliferation.

It is a rare condition. Turner et al. [1], in a systematic review

in 2004, retrieved 205 cases in the international literature, only

97 of which were true PS on the diagnostic criteria of Bieseker.

Fig. 2. Macrodactyly of the forefinger and the middle finger (forked aspect).

This highlights the rarity and diagnostic difficulty of PS. Diagnosis

T. Raboudi et al. / Orthopaedics & Traumatology: Surgery & Research 100 (2014) 251–254 253

Table 1

Bieseker’s diagnostic criteria for PS [5].

General criteria

Sporadic occurrence

Mosaic distribution in several anatomic regions

Slow, ineluctable evolution, with progressive onset in new locations

Specific criteria

Category A

Cerebriform connective tissue nevus

Category B

Linear epidermal nevus

Asymmetric disproportionate overgrowth of two of Limbs

Skull

External auditory canal Vertebrae

Viscera

Specific tumors in the first decade of life

Bilateral ovarian cystadenoma

Monomorphic parotid adenoma

Category C

Dysregulated adipose tissue (lipoma or adipose tissue hypotrophy)

Vascular malformations (capillary, venous and/or lymphatic)

Fig. 5. Dysplasia of the medial side of the epiphyseal growth plate of the proximal Lung bullae

tibia. Facial phenotype

Dolichocephaly

Down-slanted palpebral fissures

is founded on the association of general and specific criteria [5], Long face

Open mouth at rest

shown in Table 1. Differential diagnoses are numerous: patholo-

Low nasal bridge

gies involving hypertrophy, such as hemihyperplasia-multiple

lipomatosis syndrome, encephalocraniocutaneous lipomatosis or Proteus syndrome is diagnosed on all 3 general criteria plus: the specific category A

criterion; or 2 category B criteria; or 3 category C criteria.

Klippel-Trenaunay syndrome [11].

Characteristic of PS is excess growth in the limbs and digits

[1]. Hypertrophy is asymmetric between left and right sides and,

following hallux amputation for macrodactyly in a 7-year-old girl

above all, disproportionate within a given bone, gradually worsen-

with PS; necrosis of the foot ensued and required forefoot ampu-

ing and distorting the limb. Deformity frequently results, usually

tation; persistent infection finally required amputation above the

in the form of genu valgum [2,3]; genu varum, as in the present

knee several years later.

case, is rarer [12,13]. Limb-length discrepancy and macrodactyly

As well as healing disorder, recurrence of limb deformity and

are frequent. In the spine, asymmetric vertebral growth, known as

limb-length discrepancy after corrective surgery have more often

megaspondylodysplasia, induces severe kyphoscoliosis [14].

been reported [3,12,13]. Continuing aggravation in the under- and

Epiphysiodesis is often recommended for correcting muscu-

over-lying vertebrae after scoliosis surgery has also been reported

loskeletal deformities [4]; osteotomy may also be performed [2,3],

[1,2]. Recurrence may also follow surgical resection of soft-tissue

although results and complications are poorly known due to the

lesions [17] and craniofacial hyperostosis, especially in prepuberty

rarity of PS [2]. [18].

We were therefore very surprised by the extent and depth of

the cutaneous necrosis, a highly unusual complication after tibial

4. Conclusion

osteotomy in children [15,16]: nothing had foreshadowed it. Heal-

ing problems following limb surgery in PS patients have, however,

The risk of severe complications in the surgical approach in

been reported: Clark et al. [12] reported unfavourable evolution

orthopedic surgery in PS patients needs to be borne in mind. Epi-

physiodesis may therefore be preferred to correct limb deformity,

often requiring a less extensive approach than osteotomy and

avoiding postoperative cast immobilization, thus allowing control

of the surgical site.

Disclosure of interest

The authors declare that they have no conflicts of interest con-

cerning this article.

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