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ARTICLE IN PRESSG ModelFOOT-1311; No. of Pages 3

The Foot xxx (2014) xxx–xxx

Contents lists available at ScienceDirect

The Foot

journa l h om epage: www.elsev ier .com/ locate / foot

ase report

acrodystrophia lipomatosa of foot involving great toe

.K. Gaur ∗, A.S. Mhambre, H. Popalwar, R. Sharmaepartment of Physical Medicine and Rehabilitation, All India Institute of Physical Medicine and Rehabilitation, Haji Ali, Mahalaxmi, Mumbai 400034, India

r t i c l e i n f o

rticle history:eceived 19 December 2013eceived in revised form 4 March 2014ccepted 6 March 2014

eywords:

a b s t r a c t

Macrodystrophia lipomatosa is a rare form of congenital disorder in which there is localized gigan-tism characterized by progressive overgrowth of all mesenchymal elements with a disproportionateincrease in the fibroadipose tissues. The adipose tissue infiltration involves subcutaneous tissue, perios-teum, nerves and bone marrow. Most of the cases reported have hand or foot involvement. Patient seeksmedical help for improving cosmesis or to get the size of the involved part reduced in order to reduce

acrodystrophia lipomatosaesenchymal

ongenital disorderibroadipose tissue

mechanical problems. We report a case of macrodystrophia lipomatosa involving medial side of foot withsignificant enlargement of great toe causing concern for cosmesis and inconvenience due to mechanicalproblems. The X-rays showed increased soft tissue with more of adipose tissue and increased size ofinvolved digits with widening of ends. Since the patient’s mother did not want any surgical interventionhe was educated about foot care and proper footwear design was suggested.

© 2014 Elsevier Ltd. All rights reserved.

. Introduction

Macrodystrophia lipomatosa is a rare congenital anomaly inhich there is overgrowth of mesenchymal elements [1,2]. The

ondition usually involves hand or foot but may involve entire limbnd is identified in neonatal period. In lower extremity, enlarge-ent is usually seen in plantar nerve distribution and in upper

xtremity in median nerve distribution [2]. The typical presenta-ion is painless enlargement of 2nd or 3rd digits of the hand oroot [3]. The recognized associations are syndactyly, clinodactylyr polydactyly [2]. The etiopathogenesis of the condition is notlear. Various hypothesis related to the development of the condi-ion are damage of extremity bud, segmentation defect, lipomatousegeneration, foetal circulation anomaly and hypertrophy of theoncerned nerve. There is increase in adipose tissue that maynvolve subcutaneous tissue, muscles, periosteum, nerve sheathnd bone marrow [4,5]. The periosteum has multiple small nodulesaving chondroblasts, osteoblasts and osteoclasts [5]. The nodulesre bigger and more in number towards the end of the phalanges.he involved bones are enlarged and may show splaying of ends.

Please cite this article in press as: Gaur AK, et al. Macrodystrhttp://dx.doi.org/10.1016/j.foot.2014.03.003

ypertrophy of the cortex, if present, may give rise to exostosis. Therowth of involved tissue is more on the volar aspect than dorsal [4].

∗ Corresponding author at: Department of Physical Medicine and Rehabilitation,ll India Institute of Physical Medicine and Rehabilitation, K.K. Marg, Haji Ali, Maha-

axmi, Mumbai 400034, India. Tel.: +91 9969114253; fax: +91 2223532737.E-mail addresses: dranilgdranil@yahoo.co.in (A.K. Gaur),

arshanand.popalwar@gmail.com (H. Popalwar).

ttp://dx.doi.org/10.1016/j.foot.2014.03.003958-2592/© 2014 Elsevier Ltd. All rights reserved.

2. Case report

A 19-year-old boy reported with his mother to get the deformityof his right foot managed in order to reduce the inconvenience hehad been facing during walking because of his right foot. The boyhad a large foot with predominant enlargement of big toe that wasso big that the other normal part of the foot looked very small incomparison. Clefts were visible on the plantar aspect demarcatingthe enlarged ray from rest of the foot. The big toe was long andthick with distal end of the toe rounded like a small ball. The naillooked small in comparison to the size of the toe. There was a bigseparation of proximal and distal creases of the toe on the plantaraspect (Figs. 1–4).

The patient did not have any associated pain or sensory deficit.The skin was smoother towards end of the toe and thickened andmildly keratotic proximally. The part of the limb proximal to midfoot was almost normal in shape and size.

The X-rays showed increased soft tissue in the form of increasedtranslucent area due to presence of fat. There was enlargement ofphalanges and the metatarsal along with widening of the distalend of the metatarsal. Both the ends of proximal as well as distalphalanges were widened giving mushroom like appearance. Thearticular surfaces were irregular. Other toes were deviated later-ally at metatarsophalangeal joints. The navicular was also enlargedslightly.

ophia lipomatosa of foot involving great toe. Foot (2014),

Patient’s mother had brought him for management of hismechanical problems due to enlargement of the foot. Since themother did not want any surgical intervention, the boy was edu-cated about foot care and proper footwear design was suggested.

ARTICLE IN PRESSG ModelYFOOT-1311; No. of Pages 3

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3

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Fig. 1. Dorsal view of the affected foot.

. Discussion

Macrodystrophia lipomatosa is a rare non-familial disease inhich there is localized gigantism of a digit or part or whole

f an extremity accompanied by an overgrowth of the associ-ted mesenchymal elements, particularly fat. The condition is alsonown as macrodactyly, megalodactyly, macromalia and digitaligantism [5]. The characteristic feature of this condition is thenatomical location of the abnormality corresponding closely withhe zone of innervation by sclerotome [2]. The differential diag-oses of Macrodystrophia lipomatosa and macrodactyly include

Please cite this article in press as: Gaur AK, et al. Macrodystrhttp://dx.doi.org/10.1016/j.foot.2014.03.003

eurofibromatosis, hemangiomatosis, lymphangiomatosis, Proteusyndrome, and fibrolipomatous hamartomas [2]. The conditionost commonly involves hand or foot. Since the enlargement usu-

lly affects the volar aspect, the affected part gets deviated dorsally.

Fig. 2. Lateral view of the affected foot.

Fig. 3. Medial view of the patient’s feet.

The size and deviation predisposes the part to trauma. Slanting ofthe articular surfaces can occur and this leads to secondary degen-erative joint disease. The growth usually stops at puberty. Later inlife, because of repeated trauma and changed loading pattern of footthe chances of development of osteoarthritic changes are more as

ophia lipomatosa of foot involving great toe. Foot (2014),

compared to non involved population. The enlargement of toes orfingers usually is big enough to cause mechanical problems alongwith cosmetic. The increased in size of hand or part of hand affectsthe prehensile activities.

Fig. 4. X-rays – Medial and dorsal views of the affected foot.

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ARTICLEFOOT-1311; No. of Pages 3

A.K. Gaur et al. / The

The common complaints of a patient of macrodystrophia lipo-atosa are usually associated with cosmetic and mechanical

roblems. Both these problems can be managed by surgical means.he debulking of the part or amputation of the part may be theight way of managing the case. Sometimes removal of a rayay be needed. Functional and aesthetic improvements achieved

hrough reconstructive treatment provide a desirable alternativeo amputation [6]. Large anomalies may require multiple debulk-ng surgeries, osteotomies, arthrodesis or epiphysiodesis [5]. Carehould be taken to avoid nerve injuries during debulking. Thehances of recurrence are high to the tune of 33–66% [5]. Kotwal andarooq [7] operated 23 patients of macrodactyly performing first-tage defatting in all 23, second-stage defatting in 18 and foundhat treatment is not entirely satisfactory: the digits remain thick,eavy and somewhat ugly even after defatting.

. Conclusion

Please cite this article in press as: Gaur AK, et al. Macrodystrhttp://dx.doi.org/10.1016/j.foot.2014.03.003

Macrodystrophia lipomatosa is the progressive enlargement ofoft as well as bony tissues leading to cosmetic and mechani-al problems. The management for both the problems is surgicalebulking, the results of which may not be always satisfying.

[

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Funding

None.

Conflict of interest

None.

References

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3] Turkington JRA, Grey AC. Case report: MR imaging of macrodystrophia lipo-matosa. Ulster Med J 2005;74(May (1)):47–50.

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5] Khan RA, Wahab S, Ahmad I, Chana RS. Macrodystrophia lipomatosa: four case

ophia lipomatosa of foot involving great toe. Foot (2014),

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7] Kotwal PP, Farooque M, Macrodactyly J. Bone Joint Surg [Br] 1998;80-B:651–3.