Tag Archives: congenital deformity

A case of recurrent hyperostotic macrodactyly

by Milad Motalebi Kashani DPM1*, Melinda A. Bowlby DPM2

The Foot and Ankle Online Journal 13 (4): 6

Macrodactyly and its variation hyperostotic macrodactyly are some of the rarest deformities encountered by foot and ankle specialists. Changing the natural aesthetic shape of the foot, limiting the functionality of the lower extremity, and causing pain are some ways that this condition can affect patients’ everyday life and mental health. This study presents a case of recurrent hyperostotic macrodactyly that was managed with surgical intervention in order to debulk the soft tissue and excise excess osseous elements with successful results.

Keywords: congenital deformity, forefoot, lower extremity, foot and ankle surgery

ISSN 1941-6806
doi: 10.3827/faoj.2020.1304.0006

1 – Swedish Medical Center- Cherry Hill Campus, Seattle, WA PGY-1
2 – Assistant Research Director, Swedish Medical Center-Cherry Hill Campus, Seattle, WA
* – Corresponding author- miladm14@vt.edu

Macrodactyly is a non-hereditary and congenital deformation pathology of the upper and lower extremities which can be bilateral or unilateral [1-5]. In this deformity both osseous and soft tissue components of the digit can be enlarged in size which can cause functional and esthetic problems for the patient. Two types of this condition that were described by Barsky are static, in which deformity is present at birth and increases in size proportionally to other digits, and progressive, in which a digit grows disproportionately to other digits and is most commonly encountered in the lower extremity [1].

Macrodactyly is believed to be originally described by Von Klein in 1824 in the upper extremity and later in 1925 by Feriz in the lower extremity [6-8]. This disorder is thought to be a rare condition and because of that there is no accurate estimate of the prevalence of this disorder. According to some estimates, macrodactyly accounts for 0.9% of all congenital deformities and it is more prevalent in males [9, 10]. The etiology of macrodactyly has been debated over the years, but no clear conclusion has emerged yet. Some cases of macrodactyly present in patients with other disorders such as Proteus syndrome, Neurofibromatosis type 1, Klippel–Trenaunay syndrome, lymphangioma and fibrous dysplasia [8,11,12]. However, in many of the case reports published regarding macrodactyly, this condition is observed as an isolated condition with no other associated disorders [2,3,9,13,14].

Throughout the years, different terms such as macrodystrophia lipomatosa progresia, macrodystrophia lipomatosa, megalodactyly, and localized gigantism have been used in the literature to describe macrodactyly or other variations of this deformity [7]. A unique and less discussed type of progressive macrodactyly is hyperostotic macrodactyly which usually has a later onset than typical macrodactyly and is associated with osteo-cartilaginous mass formation in peri-articular areas of the upper and lower extremity [15].

Figure 1 Preoperative medial oblique X-ray image (on the left) and clinical photo (on the right), prior to second surgery.

Figure 2 Postoperative medial oblique X-ray image, following the second surgery.

The rare presentation of hyperostotic macrodactyly and a lack of literature regarding this topic have provided practitioners with no clear guidelines regarding the management of this disorder. This case report presents a case of a mild recurrent hyperostotic macrodactyly in a patient with previous surgical interventions to address this deformity.

Case Report

A 53-year-old female with no past medical history other than asthma presented to the clinic with a painful recurrent mass on her left hallux. She related that she has had two prior surgeries. The patient reported that she was originally seen regarding this problem when she was 14 years old and was diagnosed with localized gigantism. She had a surgery at that time to fix her deformity which had satisfying results and resolved her problem for about 35 years.

The second surgery was performed four years ago when the patient was seen by another podiatrist regarding this problem. She had noticed an increase in size of her left hallux and denied any trauma to the area. She had pain both on the plantar and medial side of her left hallux and first metatarsal head with noticeable bony prominences. She changed her shoe gear, using slippers or open sandals to accommodate the prominences (Figure 1). In the second surgery, osteophytes from the left first metatarsophalangeal joint and hallux were excised and a soft tissue mass from the plantar aspect of the left hallux was removed as well (Figure 2). During the postoperative period, the patient stubbed her hallux on a heavy plastic bin which was very painful for her, however no fractures were noted, and the rest of her postoperative course was uneventful.

The patient presented to our clinic two years ago due to noticing the recurrence of her deformity after the second surgery. Physical exam revealed approximately a 4 cm x 3 cm firm soft tissue mass overlying the left first tarsometatarsal joint. There was also tenderness with palpation of a prominent exostosis along the medial aspect of the left hallux Interphalangeal joint. Joint motion at first metatarsophalangeal and tarsometatarsal joints were severely limited as well, but not painful (Figure 3). Magnetic resonance imaging report indicated an ovoid, subcutaneous lipoma measuring 5.2 x 2.8 x 1.1 cm. Mild to severe arthritis of the first tarsometatarsal and metatarsophalangeal joints with ossified bodies in addition to fatty infiltration of abductor and flexor hallucis muscles was also noted.

Figure 3 Preoperative clinical photos (in the left and the middle) and dorsoplantar X-ray image (on the right), prior to the third surgery.

After discussing the possible adverse effects, benefits and alternative therapies to the surgery with the patient, the patient wished to proceed with exostectomy and removal of the soft tissue mass. During the third surgery, osseous masses from the left hallux were removed and the soft tissue mass from the dorsal and medial aspect of first metatarsal of the left foot were excised and both specimens were submitted for pathology evaluation (Figure 4). The osseous masses were clinically equivalent with osteophytes measuring 0.8×0.6×0.5cm and 1.2×

Figure 4 Intraoperative image of the excised fibro-fatty mass, during the third surgery.

Figure 5 Postoperative clinical photo, following the third surgery.

The soft tissue mass revealed mature adipose tissue with features of a lipoma measuring 4.5×2.5×1.3cm. The patient was kept non-weight bearing in a splint for 2 weeks and then she was allowed to weight-bear as tolerated for 2 weeks in a surgical boot. Postoperative course was uneventful, and the patient made good progress, had no complaints, and was satisfied with the results more than 18 months after the third surgery (Figure 5).


Hyperostotic macrodactyly is a distinctive type of macrodactyly in which massive osteo cartilaginous deposits are observed around the joints [2,15]. Early in the formation process of these osteo-cartilaginous bodies around the joints, they are mostly cartilaginous and later they are substituted with osseous elements which leads to motion restriction across the affected joint [2]. As a progressive macrodactyly, it is not uncommon to observe fatty growths or lipomas and fatty infiltrations in this condition. In many reported cases this fatty hypertrophy and infiltration can be observed in both plantar and dorsal aspect of the foot [3,14]. The case presented in this article demonstrated both osseous and fatty enlargement across the first ray of the patient’s left foot.

The main goals of treatment for macrodactyly should be providing the patients with a pain free, functional foot that can fit into their shoes [4]. Unfortunately, there are very few reported cases of hyperostotic macrodactyly in the foot, however it appears that the removal and debulking of the excess fibro-fatty tissue and osseous bodies is the best method of management of this disorder which was the way the patient in this case was treated [2,9,13]. In a case report by Katz, the patient presented with lipomas across his right foot and ankle and osteo-cartilaginous growths across his fourth and fifth toes and metatarsals [9]. An surgery was performed on the patient in which the lipomas and osteo-cartilaginous bodies were excised and the fifth toe and half of the fifth metatarsal were resected. The patient had excellent results after the surgery. In another case by Matsuzaki, et al., the patient was suffering from painful and limiting osteo-cartilaginous masses around his left first metatarsal head and ankle [2]. Patient had a previous left second toe and hallux amputation surgery to address his macrodactyly. After removal of these osseous bodies from the patient’s left foot, his pain was relieved and the motion across his ankle joint increased and no recurrence was reported.

One curious aspect of the case presented in this article that requires attention is the recurrence of osteo-cartilaginous bodies almost two years after their resection in the second operation. This seems to be too early for a recurrence to happen considering that it took almost 35 years after the first surgery for her to have problems with her left foot again. A possible explanation for this can be the traumatic event to the area in the postoperative course in which the patient stubbed her big toe straight into a heavy plastic bin. Some studies have suggested that trauma can be the trigger for the osteo-cartilaginous hypertrophy observed in hyperostotic macrodactyly deformity which would explain the recurrence in this case [2,15].

In conclusion, hyperostotic macrodactyly is a rare progressive form of macrodactyly in which massive and limiting periarticular osteo-cartilaginous bodies in addition to fatty tissue hypertrophy can form. Surgical intervention to remove these osseous and fatty masses in cases that they cause pain and functional disability due to blocking joints appears to be the best method to treat this condition. It is also very important to educate patients to avoid trauma to the areas affected by hyperostotic macrodactyly since trauma appears to be one of the causes of this disorder or its recurrence.


  1. Barsky AJ. Macrodactyly. The Journal of Bone & Joint Surgery. 1967 Oct;49(7):1255-66.
  2. Matsuzaki T, MD, Hitora T, MD, Akisue T, MD, Imaizumi Y, MD, Yamagami Y, MD, Yamamoto T, MD. Massive Heterotopic Ossification around the Ankle in a Patient with Macrodactyly of the Foot: A Case Report. Journal of Foot and Ankle Surgery, The. 2012;51(5):648-51.
  3. Zhang X, Liu Y, Xiao B, Li Y. Two cases of macrodactyly of the foot: relevance in pediatric orthopedics. Journal of Pediatric Orthopaedics B. 2016 Mar;25(2):142-7.
  4. Hop MJ, MD, van der Biezen, Jan Jaap, MD, PhD. Ray Reduction of the Foot in the Treatment of Macrodactyly and Review of the Literature. Journal of Foot and Ankle Surgery, The. 2011;50(4):434-8.
  5. Kalb JP, Suarez DA, Herrera AM. Bilateral Macrodactyly of the Halluces in an Adolescent Girl Corrected with Shortening Osteotomies of the First Metatarsal and the Phalangeal Bones: A Case Report. JBJS case connector. 2018 Jul;8(3):e58.
  6. Klein W, Germann G, Bosse A, Müller KM, Steinau HU. Clinical aspects, morphology and therapy of an unusual case of bilateral macrodactyly. Handchirurgie, Mikrochirurgie, plastische Chirurgie. 1993 Jan;25(1):12.
  7. Tatu RF, Anuşca DN, Dema ALC, Jiga LP, Hurmuz M, Tatu CS, et al. Surgical treatment in a case of giant macrodystrophia lipomatosa of the forefoot. Romanian journal of morphology and embryology. 2017;58(3):1115.
  8. Natividad D, Ellise, Patel D, Kinna. A Literature Review of Pedal Macrodactyly. Foot & ankle journal (Online). 2010 May.
  9. Katz JB. Progressive macrodactyly. The Journal of Foot and Ankle Surgery. 1999;38(2):143-6.
  10. Wang S, Han Z, Liu X. Hyperhidrotic Macrodactylism Caused by Osteoid Osteoma: A Case Report and Review of the Literature. The Journal of Foot and Ankle Surgery. 2019 May;58(3):586-90.
  11. Bulut M, Karakurt L, Belhan O, Serbest S. Ray amputation for the treatment of macrodactyly in the foot: report of three cases. Acta orthopaedica et traumatologica turcica. 2011;45(6):458- 62.
  12. Rampal V, Giuliano F. Forefoot malformations, deformities and other congenital defects in children. Orthopaedics & Traumatology: Surgery & Research. 2020 Feb;106(1):S115-23.
  13. Mullins AM. Multiple Lower Limb Osteophytosis with Macrodactyly: A Case Report. Foot & Ankle International. 1996 May;17(5):283-5.
  14. Yushan M, Alike Y, Keremu A, Abulaiti A, Ren P, Yusufu A. Precise Resection of Macrodactyly Under Assistance of Three-Dimensional Reconstruction Technology: A Case Report. The Journal of Foot and Ankle Surgery. 2020 Jan;59(1):125-7.
  15. Schuind F, Merle M, Bour C, Michon J. Hyperostotic macrodactyly. Journal of Hand Surgery. 1988 Jul;13(4):544-8.


A Literature Review of Pedal Macrodactyly

by Ellise Natividad, DPM Candidate1 , Kinna Patel, DPM Candidate2

The Foot and Ankle Online Journal 3 (5): 2

Macrodactyly is a congenital disease where the digits affected increase in size faster than can be attributed to normal growth of unaffected digits. Its etiology is ambiguous and hereditary patterns do not play a role. The abnormality develops in one or more toes and involves thickening of soft tissues, bone and accumulation of fat. The accepted treatment is reduction of the fibro-fatty bulk via dissection and ablation; the major aim being reconstruction of a pain-free functioning foot. Complications with surgery include delayed wound healing and inadequate initial de-fatting which could require a more proximal amputation.

Keywords: Macrodactyly, congenital deformity, thickened digit.

Accepted: April, 2010
Published: May, 2010

ISSN 1941-6806
doi: 10.3827/faoj.2010.0305.0002

Macrodactyly was first loosely coined by Feriz when he described lymphomatous degenerative lesions and called them “macrodystrophia lymphometosa progresiva.” [1] In the foot, the most common presentation of this pathology consists of excessive fibro-fatty tissue on the plantar aspect which causes dorsal curling of the toes. [2] However, due to the rarity of this condition, there is scarce literature which discusses its incidence, prevalence and treatments. [3] The purpose of this article is to discuss the etiology of macrodactyly and treatment options by the review of previous case reports.

Macrodactyly is a rare congenital disease that can be divided into two types – static and progressive. Static macrodactyly is present at birth and the digit appears to have increased in size and grows proportionately with the rest of the body. Progressive macrodactyly is characterized by disproportionate growth – the digit affected increases in size faster than can be attributed to normal growth patterns of unaffected digits. [4] Pedal macrodactyly tends to be of the progressive type. Most reported cases indicate a slight male preponderance [5,6] and the condition can occur unilaterally, bilaterally, symmetrically, or asymmetrically. [7] One study showed that macrodactyly may be associated with syndactyly of the adjacent digit in as much as 10% of cases reported. [7]

The etiology of macrodactyly is ambiguous. Heredity does not seem to play a factor and no other congenital abnormalities occur in combination with the disease since chromosomal studies performed were negative. [4] Streeter hypothesizes that the condition might be a “consequence of germ plasm abnormality or pathology; by accident during cell cleavage or organogenisis, certain areas become supersensitive to growth stimulus.” [8] During fetal development, some disturbance of growth limiting factor occurs in areas affected and because of this lack of inhibitor the part affected continues to increase in size and accounts for progressive overgrowth in later years. Barsky also states that the “condition might be caused by interaction of genetic and environmental factors and may be the result of interaction of two or more extrinsic agents each incapable of producing teratological effects by themselves.” [4]

Enlargements may also be due to hemangiomas where soft tissues, skin and x-rays do not show any increased size of the digits affected. [4] Some propose that the development of neuorfibromatomas in the periosteal nerves due to bony destruction and regeneration may be the cause of rapid localized overgrowth. [5]

Macrodactyly seems to occur in isolated findings without other evidence of systemic involvement though it may constitute one of the many features of a number of syndromes such as Proteus syndrome, Banayan-Riley-Ruvalcabe, Maffuccin, Ollier’s disease, and Milroy’s disease. [9]

The abnormality develops in one or more toes and involves thickening of both soft tissue and bone of the affected digit. (Fig. 1) It is further characterized by increased size of all elements – tendons, nerves, vessels, subcutaneous fat, nails, skin and phalanges – all but the metatarsals. The increase of nerve size is noticeable and the digit appears to be infiltrated with fatty tissue. [4] In pedal macrodactyly, accumulation of fat appears to be the most striking feature [5,15] and histopathological findings suggest that excessive proliferation of adipose tissue is the basis of etiology for this abnormality whereas macrodactyly of the hand involves hypertrophied and tortuous digital nerves. [9]

Figure 1 Macrodactyly affecting the second digit of a child.

The fatty tissues in pedal macrodactyly found in children resemble adult subcutaneous fat – dark lobules fixed by many fine vessels which traverse the tissue – rather than the fat of the normal child’s age. [4,6] Most of the abnormal bulk is due to excessive fibro-fatty tissues and is abundant on the sides and plantar aspects of the toe. The fibro-fatty tissue extends from the toe in the forefoot and causes the bulk to expand laterally. The skin is markedly thickened and the digits involved have a soft and rubbery consistency. [5] The bone age, as denoted by epiphyseal centers in the phalanges of affected digits, is increased when compared to unaffected bone. [10] There is also an increased length and breadth of phalanges [5] with proliferation of fibroblastic tissue between the cortex and periosteum and accounted for cortical thickening and gigantism of phalanges in affected digits. [10]

As previously stated, macrodactyly may be related to several neurogenic disorders. Abnormalities of peripheral nerves are uncommon in the pedal form though there are nerves more prominent with much proliferation of epineural and perineural tissues. [5]

Macrodactyly may also result in reduced function owing to the secondary degenerative joint disorders and may cause compressions of adjacent nerves and vessels as well as disfigurement.9

Treatment for macrodactyly is on a case by case basis and the major aim is the reconstruction of a pain-free functioning foot. [11] The growth of affected digit in children may be retarded by destroying, stapling, or wiring the epiphyseal plate. [12] The accepted treatment for pedal macrodactyly is reduction of the fibro-fatty bulk via dissection and ablation combined with removal of as much fat as possible. [5] De-fatting occurs in a two step procedure where the first step involves only the convex side of the digit and reducing its thickness by 10% to 20% while taking care to preserve its vascularity. The second procedure involves de-fatting the remaining side and performing a phalangectomy – shortening of the bone and resectioning and suturing of the excess skin. However there are new one-step procedures which greatly reduce compromising vascularity. Amputation is also an option, though it is reserved as a last option in most cases. [11] Complications with surgery include delayed wound healing and inadequate initial de-fatting could cause subsequent re-growth of the fibro-fatty tissue and may require a second and more proximal amputation. [5]

Case Review One

Since the treatment for macrodactyly is on a case by case basis, there will be a review of two different treatment options-one at an earlier stage in life and one at the adult stage. In a case study by Lagoutaris, early treatment of macrodactyly is discussed and could be viewed as a better option. Most patients that came in for treatment for macrodactyly were found to be in their late teens or adults; [13] although the condition is rare, an earlier treatment would benefit the patient in the future. A pediatric patient will not only benefit from an aesthetically pleasing foot, which will allow him or her to avoid any emotional distress, but will also be privileged to be fitted with normal footwear.

It is probable that the pediatric patient would have to return in the future for additional treatment as hypertrophy cannot be halted; however, any adult patient would require the same post-operative treatments. [13]

In this particular case study, a three year old girl presented with a hypertrophic fourth toe with flexion contracture; all neurovascular findings were normal. [13] In effort to make the foot more accommodating of footwear, more aesthetically pleasing, and more functional, removal of a large piece of full-thickness skin and subcutaneous tissue via an elliptical incision over the midline of the fourth toe and osteotomy of two-thirds of the proximal phalanx was performed. [13] A K-wire was placed to help stabilize the osteotomy and the patient was placed in a short-leg walking cast for 6 weeks. [13] The pediatric patient had no post surgery complications but will most likely require a simple epiphysiodesis as age progresses. [13] Amputations, of course, were suggested only after surgical options were exhausted. It has been noted that when pathology is in the lesser toes, ray resections produce a more cosmetic and functional outcome. However, when the hallux is involved, ray amputation is coupled with repeated soft-tissue debulking. [14]

Case Review Two

Another case study performed by Uemura discussed a twenty-four year old patient’s yearn for a cosmetically pleasing second toe. The patient’s parents had noticed a large degree of growth difference in the toe when she was about three years old but had not sought any treatment. [11] The patient’s chief complaint was that of cosmesis, as she was able to run and walk without experiencing any difficulties and had a normal range of motion and sensation. [11] Furthermore, she complained about the need to purchase two differently sized shoes for her right and left foot in order to be well fitted and her inability to wear sandals during warmer months for aesthetic reasons. [11] Upon evaluation, it was found that the affected toe was 15mm longer and 15mm thicker around the nail than the unaffected toe on the opposite foot and only the metatarsal and phalanges were enlarged. [11]

Since the patient’s primary concern was to aesthetically preserve the toe, a nail graft was used in an osteotomy as well as debulking of subcutaneous tissue, instead of a simple amputation. [11] Pho, et al., stated that although shortening of the toe via a simple amputation could have improved the overall morphology of the toe, without a nail, the toe would have looked abnormal. [16] In this case, the need for a grafting procedure outweighed the simplicity of an amputation due to the patient’s needs and concerns for an aesthetically beautiful toe.

Both cases were performed with minimal post-operative complications. Consequently, it is difficult to decipher whether treatment at an earlier age would be any more beneficial than treatment as an adult. While treatment at a younger age would save years of emotional distress and provide earlier comfort and relief of symptoms, a child may need to return for additional surgeries later in life. Furthermore, Uemura, et al., [11] stated that it would be difficult to apply that type of procedure to progressive macrodactyly in children. If aesthetics is not of primary concern and if there are no related complications, then electing surgery at the adult stage when the patient is capable of making his or her own decision would seem ideal. Regardless, each case should be treated individually, based on the patient’s symptoms, needs and concerns.


Macrodactyly is a congenital disease in which the soft tissue, bone, or fat of the digits affected is enlarged. Due to the rarity of the condition, the prevalence is unknown but predominantly associated with males more than females. Although there has been research conducted on macrodactyly, there is not much known about this deformity, including the etiology. Surgical options vary, and include but are not limited to debulking of the soft tissue and fat, partial osteotomies, and amputations. However, each deformity must be treated on a case by case basis.


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11. Uemura T, Kazuki K, Okada M, Egi T, Takaoka K. A case of toe macrodactyly treated by application of vascularized nail graft. Br J Plast Surg 2005 58: 1020-1024.
12. Tsuge K. Treatment of macrodactyly. Plast Reconstr Surg 1967 39: 590-599.
13. Lagoutaris E, DiDomenico L, Haber L. Early surgical repair of macrodactyly. JAPMA 2004 94: 499-501.
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15. Fengdong Z, Rongrong Z, Peihua S, Shunwu F. Macrodactyly of the great toe for thirty-five years. J Plas Recon Aes Surg 2009 62: e520-e522.
16. Pho RW, Patterson M, Lee YS. Reconstruction and pathology in macrodactyly. J Hand Surg Am 1988 13:78-83.

Address correspondence to: Temple University School of Podiatric Medicine

Ellise Natividad 10104 Rodeo Drive, Waco, TX 76712. (254) 495-9891.
Kinna Patel 8654 Marlamoor Lane, West Palm Beach, FL 33412. (646) 279-8657.

© The Foot and Ankle Online Journal, 2010