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Background: Macrodactyly is a rare congenital disorder of overgrowth affecting the digits of the upper or lower extremity. Mostly, patients are surgically treated during childhood to reduce the digit or to stop growth. There are no standardized guidelines for the treatment and follow-up of macrodactyly. Consequently, follow-up may not be regularly scheduled into adulthood. Methods: A retrospective, descriptive analysis of patients with the long-term progression of macrodactyly who presented at our tertiary referral hospital between July 2018 and March 2020 was performed. All patients from our local macrodactyly database were screened for progression of macrodactyly since adulthood; this resulted in four patients. The aim of these case series is to highlight the clinical features and disease course at long-term follow-up. Results: All patients were surgically treated during childhood and showed progression of tissue overgrowth during adult life. All patients developed severe secondary degenerative bone changes in macrodactyly affected digits, such as ankyloses of joints, new bone formation, and bony spurs. Subsequently, tissue overgrowth and degenerative bone changes led to functional problems. Conclusion: Patients with macrodactyly may experience growth during adult life, which may progress to deforming changes. Consequently, patients should be informed about the possible growth, and the progressive growth should be monitored.

This article explores different pediatric forefoot deformities including syndactyly, polydactyly, macrodactyly, curly toe, and congenital hallux varus. The epidemiology and genetic background are reviewed for each condition. Preferred treatment options and recommended surgical techniques are discussed with review of the current literature.

Klippel-Trenaunay syndrome is a rare congenital malformation which may be associated with macrodactyly. The main problem is the need for custom-made shoes. We describe the case of a female newborn affected by Klippel-Trenaunay syndrome, with a larger and longer right foot; the difference increased progressively and, at 5 years of age, the right foot was 50% larger and 38% longer than the left one. Due to the progression of the deformity, reduction surgery was advised to reduce the foot’s width. Resection of the second ray and 2nd cuneiform was performed. The result was excellent and there were no complications during a 10-year follow-up period with a decrease of width and length difference to 10% and 4%, respectively, in comparison to the contralateral foot. There were no gait anomalies. Abnormal foot width and length represented the main problems and guided the surgical strategy. Second ray resection was effective, without complications and with a good long-term functional outcome. Possibility of wearing fashionable conventional shoes without insoles was achieved to the patient’s satisfaction

Isolated macrodactyly in adults caused by mosaic pattern PIK3CA mutation can result in significant functional impairment and psychological burden. Due to the rarity of this condition there are no clear treatment guidelines, and those few available are focused on paediatric cases. Reports on surgical management of isolated macrodactyly in adults are lacking. We present here the surgical management through partial amputation of enlarged rays of the right hand in an individual affected by low-grade mosaic PIK3CA mutation.

Acrodysostosis is a rare syndrome of peripheral dysostosis, neurodevelopment delay, and skeletal abnormalities. The most common bone changes are peripheral dysostosis with severe brachydactyly of the lesser toes. The first ray of the feet is often not affected or may present hyperplasia resulting in an unbalanced transverse arch of the forefoot, with potential negative effects on function. Additionally, the insufficiency of the lesser toes may be associated with complex congenital hallux valgus deformities. Surgical approaches include growth plate epiphysiodesis, bulk reduction procedures, bone shortening, osteotomies, or amputation. Here, we report a case of a 14-year-old girl with acrodysostosis and severe discrepancy of the first ray and hallux valgus deformity simultaneously treated by a modified scarf osteotomy. Levels of Evidence Level V: Case report

A patient with macrodactyly of the hallux, returned 2 years after amputation of the distal phalanx, complaining of pain and swelling in the plantar foot. The Tinel, Moulder, and Gauthier signs were all present. Diagnostic hypotheses were: neuroma of the amputation stump, compressive neuroma, neurofibroma, or schwannoma. Histopathological diagnosis demonstrated that the tumor was a neuroma. This is a rare and unique case associated with macrodactyly, in which nerves tend to be hypertrophic. The location in the first intermetatarsal space is uncommon. The treatment proposed was resection of the entire involved nerve; symptoms improved and there was no relapse. Level of Evidence V, Therapeutic Studies; Expert Opinion.

In patients with tuberous sclerosis, we can today distinguish between two different categories of segmental mosaicism. The well-known simple segmental mosaicism is characterized by a unilateral or otherwise localized arrangement of the ordinary lesions of the disorder, reflecting heterozygosity for an early postzygotic new mutation. By contrast, superimposed mosaicism is defined by a pronounced segmental involvement in a patient with ordinary non-segmental lesions of the same disorder, resulting in a heterozygous embryo from loss of the corresponding wild-type allele that occurred at a very early developmental stage. So far, the second category has been called 'type 2 segmental mosaicism', but here we propose the short and unambiguous term 'superimposed mosaicism'. In order to render physicians familiar with the manifold manifestations of this category as noted in tuberous sclerosis, we review the following clinical designations under which cases suggesting superimposed mosaicism have been published: forehead plaque; shagreen patch; fibrous cephalic plaque; fibromatous lesion of the scalp; folliculocystic and collagen hamartoma; segmental hypomelanosis; congenital segmental lymphedema; and segmental 'diffuse' lipomatosis. Molecular corroboration of this genetic concept has been provided in a case of forehead plaque and in a child with shagreen patch. - Extracutaneous manifestations suggesting superimposed mosaicism include columnar tuberous brain defects; 'radial migration lines' or 'cerebral white matter migration lines' as noted by brain imaging; linear hamartomatous lesions of the tongue; fibrous dysplasia of bones including macrodactyly; and unilateral overgrowth of an arm or leg. - Remarkably, superimposed mosaicism appears to occur in tuberous sclerosis far more frequently than simple segmental mosaicism.

Macrodystrophia lipomatosa (MDL) is a rare congenital non-hereditary condition characterised by an abnormal overgrowth of mesenchymal tissue of a digit or an extremity. Although MDL is interchangeably described by terms such as macrodactyly and macrosomia, the entity has to be differentiated from other acquired and hereditary causes of macrodactyly. Rare association with osteochondromas and lipomas in other parts of the body has also been reported. We present a case with gradual progressive swellings of the right great toe and right thigh, which was diagnosed to be a case of MDL of the great toe with fibrolipomatous hamartoma of medial plantar nerve and lipomatosis of the thigh based on characteristic imaging findings.

Highlights • Proteus Syndrome is an extremely rare case where only 200 cases has been reported. • Macrodactyly is a striking feature. • Biesker’s criteria is a diagnostic tool, which assist in reaching the diagnosis. • Confirmation is by finding genetic variation in AKT1 and/or PTEN gene. • Our case had multiple intestinal lipomatosis which caused him small bowel volvulus., Introduction Proteus Syndrome is a very rare syndrome, where only 200 cases has been reported so far. Presentation of case We were presented with a 45 year male with features of chronic Intestinal Obstruction. On Examination he had a giant right middle finger (Fig. 1), giant left forearm, with amputated left hand, and massive abdominal distension with tenderness in upper abdomen. Discussion Proteus Syndrome (PS) is a very rare syndrome, diagnosis of which is based on Biescker’s criteria, either one finding from Criteria A, or two from B, or three from C. Confirmation of the disease is by finding genetic variation in the AKT1 gene. In addition to the presence to some of the criteria in our patient, he also had numerous intestinal lipomatosis, involving almost most of his small intestine. This in addition to high riding caecum and a narrow long mesentery which contributed to the development of small Bowel volvulus. Conclusion PS should be suspected whenever we encounter patients with macrodactyly and this should alert us to the possibility of other congenital anomalies.

Abnormal huge progressive enlargement and fusion of digits with limitation of joint movements (macrodactyly, syndactyly, and arthrogryposis) are usually part of a syndromic manifestation. When associated with mosaic skeletal overgrowths, vascular malformations and internal organ cysts it could be a part of the very rare Proteus syndrome. Here we are presenting a case with macrodactyly, syndactyly, arthrogyrposis and bilateral ovarian cysts. When clinical criteria remain inconclusive the diagnosis of Proteus syndrome (PS) is established by identification of a heterozygous pathogenic variant in AKT1 gene, which here could not be done because of economical constraints.

Cavernous lymphangioma is a congenital malformation of lymphatic system causing dilated lymphatic sinuses that involve the skin and subcutaneous tissues. This was an interesting case of dystrophic macrodactyly of the left ring and little finger in a 18-month-old girl who presented with swollen and sausage like fingers deformity which turned out to be an isolated cavernous lymphangioma. This tumor, although rare to occur in the extremeties, must be differentiated from other congenital vascular lesions of the hand that include arteriovenous malformations and hemangiomas. Diagnosis should be solely based on histopathological analysis of the excised tissue mass. Surgical excision is usually necessary for satisfactory functional and cosmetic outcome.

La macrodactilia es una anormalidad congénita rara que se presenta en el 0.9% de malformaciones en miembro superior. Se caracteriza por un crecimiento excesivo de los tejidos blandos, de los huesos y de los dedos. El principal objetivo del tratamiento es obtener una mano funcional y estéticamente aceptable que permita un desarrollo psicomotor adecuado. Se reporta el caso de paciente con macrodactilia junto con sindactilia compleja por fusión de la falange distal u sinoniquia asociada en dedos medio y anular de mano izquierda en donde a los 3 meses posteriores a la cirugía, hubo mejoría funcional y estética.

Lipofibromatous hamartoma (LFH) is a benign tumor that causes nerve enlargement due to fatty adipose tissue infiltration around bundles of peripheral nerves. It most commonly occurs at the median nerve with associated macrodactyly. We present an uncommon case of LFH that affected a digital branch of the median nerve without macrodactyly.

Lipofibromatous hamartoma is an uncommon tumor that causes nerve enlargement due to fatty adipose tissue infiltration in peripheral nerves being the median nerve at the carpal tunnel the most commonly affected site, typically associated with macrodactyly. Here we present a case which affected a digital branch of the median nerve

Introduction Macrodystrophia Lipomatosa is a rare congenital non-hereditary disorder, characterized by the presence of gigantism of a small part of the limb or the whole limb due to an overgrowth and disproportionate growth of fibroadipose tissue, causing macrodactyly. Case presentation One case of the 14-year-old girl presented with an enlarged middle finger of her left hand since birth, discomfort during the last 6 months, and resistance to flex, was underwent surgery by performing debulking procedure and a yellow cord-like mass was obtained from the digital nerve covered and enlarged by fibrofatty tissue to the palm area, could be cut off completely. Imaging and histopathological examination revealed to macrodystrophia lipomatosa. We follow up the patient for the finger's range of motion, the neurological disturbance and re-enlargement of the tumor. Discussion Since there were compression of the nerves, functional impairment due to enlarge fingers and cosmesis problems, the surgery was indicated. Types of surgery may include debulking of soft tissue, especially adipose tissue. The mass size was decrease, motor function and movement of the middle finger were normal post operatively, but sensory deficits persisted according to the distribution of the digital nerves. Three months and six years after surgery, no enlargement of the middle finger, normal motor function, normal finger movements but sensory deficit still persisted according to the distribution of the digital nerves. Conclusion Surgical management in macrodactyly due to macrodystrophia lipomatosa of the finger give the satisfactory result., Highlights • Macrodystrophia Lipomatosa of the finger causing macrodactyly. • The complaints related to neurovascular compression due to swelling, pain or not, and degenerative changes. • The enlargement make the joint relatively stiffer, limiting the movement. • Surgical management give the satisfactory result.

Fibrolipomatous hamartoma (FLH) is a rare, benign neoplasm that affects the median nerve predominantly and can present with compressive symptoms. MRI can be used to diagnose this condition without the need for a nerve biopsy. While no definitive treatment has been described, open carpal tunnel release for nerve decompression is currently the standard of care to alleviate compressive neuropathies of the median nerve. In this report, we describe a case of FLH diagnosed via MRI in which the patient's symptoms responded to open carpal tunnel release.

Macrodactylism or macrodactyly is referred to as congenital deformity of fingers or toes, and the corresponding incidence rate is relatively low. In this article, we describe a young male with macrodactylism of the second toe of his right foot. He was suffering from persistent pain, overgrowth, and hyperhidrosis ofthe involved toe. Radiographic examination of the right foot showed a small translucent area surrounded by hyperplasia and sclerotic bone in the second distal phalanx, in addition to increased soft tissue density and volume. Surgical resection of the bone lesion and reduction of the soft tissue bulk were performed. Pathological findings showed osteoblast hyperplasia, which was diagnosed as osteoid osteoma, and noabnormal findings were seen in the skin. Symptoms of pain and hyperhidrosis disappeared postsurgery and did not recur over the subsequent 2-year follow-up. As far as we know, this was a rare case of osteoid osteoma occurring in the toe that resulted in macrodactylism, which was also associated with localized hyperhidrosis.

Background Macrodactyly is a rare congenital deformity characterized by gigantism of all structures of the digits. Previous reports showed that the mosaic PIK3CA variants were associated with overgrowth syndromes including macrodactyly. Objectives To determine the genetic alteration in a Thai patient with enlarged soft tissue of the left middle and left fourth fingers with abnormal enlarged phalanges. Method A nerve and a skin piece were separated from a therapeutically surgically removed part of the enlarged digit. Skin fibroblasts were cultured from the removed skin piece. DNA was isolated from the nerve tissue, cultured skin fibroblasts, and peripheral blood leukocytes. Polymerase chain reaction (PCR) followed by Sanger sequencing of PIK3CA was performed. Results Mutation analysis revealed the c.3140A>T (p.(H1047L)) variant of PIK3CA in the nerve tissue and the cultured dermal fibroblasts but not in leukocytes from the peripheral blood. Conclusion The somatic c.3140A>T (p.(H1047L)) variant of PIK3CA was found in a Thai patient with isolated macrodactyly, the same as those previously identified in other populations.

We present a case of middle finger macrodactyly reconstructed in a single stage using multiple techniques. We elevated a pedicled osteo-onychocutaneous island flap, excised the remnant distal phalanx with a segment of 1 digital nerve and skin over the dorsum of the middle phalanx, performed epiphysiodesis and reduction of the middle phalanx as well as soft-tissue debulking, and inset the flap over the dorsum of the middle phalanx. Follow-up at 12 months revealed a satisfactory aesthetic and functional outcome.

Macrodactyly is a rare congenital disorder affecting the digits of hands and feet. It is often distressing for both parents and children. Surgical options range from soft tissue debulking with or without osteotomy and physeal arrest to simple or ray amputation. Although amputation is generally reserved for the severe progressive variant of macrodactyly and revision surgery, there is controversy regarding whether initial amputation or debulking is the best approach. We present a case of isolated macrodactyly of a minor toe, where debulking showed superior results.

Case A 37-year-old man presented with pain and macrodactyly of a toe. Imaging and histology demonstrated findings consistent with macrodystrophia lipomatosa (MDL). We compared our findings with control tissue obtained from an identical site of a fresh-frozen cadaveric foot from the same anatomical site. Pacinian corpuscles (PCs) in the MDL tissue were increased in number, size, and shape compared with the control tissue and demonstrated edematous interstitial lamellae and vacuolar degenerative change. We also document the magnetic resonance imaging findings of the PCs. Conclusion Peculiar abnormalities of PCs in MDL underline nerve damage and may be a contributing factor in the pain associated with this unusual condition.

Background The purpose of this study was to describe the clinical characteristics of macrodactyly of the foot through a large cohort of cases to further understand this rare entity. Methods Medical records, clinical photographs, plain radiographs, pathological findings, and intraoperative photographs of 95 feet of 93 patients were reviewed. Data including age; sex; laterality; ethnicity; birthplace; family history; and history of gestation, environment, whether smoking, or drinking during pregnancy were collected and analyzed. Results Female patients (60%), left foot (56%), and static overgrowth (63%) were more prominent in the study cohort. Southern provinces (74%) and Han Chinese ethnicity (95%) predominated in terms of geographical region and demographic distribution, respectively. Multiple-toe involvement was 2.01-times more frequent than single-toe involvement. All five toes were involved with midline toes being most frequently affected overall and a medial distribution being more common than a lateral one. The forefoot was affected in 90 feet. The affected areas (toes and forefeet) were mostly located in the innervation of the affected medial plantar nerve (91%). The nerves showed enlargement in 49 feet, fatty infiltration in 25, a tortuous course in one, and were normal in 10 feet. Only six feet involved the musculature. Enlargement of phalanges and metatarsals were observed in 92 and 57 feet, respectively, and advanced bone maturation was seen in 63 feet. Twenty-two cases had syndactyly. Conclusions Macrodactyly of the foot is a rare congenital malformation with diverse clinical manifestations and multiple elements’ involvement. It also presents the characteristics of nerve-mediated overgrowth and “nerve territory-oriented” deformity similar to that of macrodactyly of the hand.

This is a rare case of a 42-year-old Hispanic male with macrodactyly who presented with recurrent carpal tunnel syndrome (CTS) due to Lipofibromatous Hamartoma (LFH). A slowly growing mass in his right palm with pain and numbness, along with motor and sensory deficits in the median nerve distribution, was reported since the past year prior to visit. Previous open carpal tunnel release was performed at 16 years of age due to CTS without complications. The diagnosis of LFH was made based on ultrasound, electromyography test and physical examination. An extended open carpal tunnel release with transection of transverse ligament was performed. The 24-month postoperative evaluation showed complete resolution of symptoms. This report illustrates the management of a recurrent CTS due to LFH in a Hispanic adult patient with macrodactyly that was successfully treated with a carpal tunnel decompression.

Background Amputation of the abnormal segment seems to be the reference standard treatment for the surgical management of macrodactyly of the foot in children. Our objectives here were to detail the surgical strategies according to the cause, anatomical characteristics, and static or progressive nature of the macrodactyly and to evaluate the long-term clinical outcomes. Hypothesis Conservative treatment can be an option in the management of static macrodactyly of the foot in children. Material and methods We retrospectively included 24 feet in 19 patients seen consecutively. There were 12 primary and 12 secondary types. The macrodactyly was static in 9 cases and progressive in 15 cases. The treatment consisted in either conservative procedures or amputation of the segment. All patients completed the Oxford Ankle Foot Questionnaire for Children (OxAFQ-C) to evaluate their quality of life, shoe wear issues, and satisfaction with their treatment. Results Mean age at first surgery was 5.8 years (range, 0.5–11.5) and the mean interval between two procedures was 2.3 years (range, 0.3–5.5). Mean number of procedures per foot was 2.2 par pied (range, 0–7). All 9 static forms were managed conservatively. Amputation was performed in 11 of the 15 progressive forms. The mean number of procedures was significantly higher in the progressive forms (4.1 vs. 1.5/pied; p = 0.006). Two patients died during follow-up. The remaining 17 patients, with 22 affected feet (primary and secondary in 11 cases; progressive in 14 cases and static in 8 cases) were re-evaluated. Mean follow-up was 9.4 years (range, 2.7–20.6). The final OxAFQ-C score was 46/60 (range, 18–58). Of the 17 patients, 86% would be willing to repeat the same surgical procedures and 77% were satisfied with their treatment at last follow-up. We found no differences between the groups managed with amputation and with conservative treatment regarding quality of life, satisfaction, or shoe size difference. Conclusions Conservative treatment deserves a place in the treatment of static macrodactyly of the foot in children. Regarding amputation of the segment in progressive forms, it is important to reassure the patients and parents about the expected results but also to inform them about the risk of requiring repeat surgical procedures. Level of evidence IV, retrospective study.

The PI3K/AKT/mTOR signaling pathway is significantly activated in rheumatoid arthritis. In addition, somatic activating mutations of the PI3K/AKT/mTOR pathway may result in PIK3CA-related overgrowth spectrum diseases, including CLOVES (Congenital Lipomatous Overgrowth, Vascular malformation, Epidermal nevi, Skeletal abnormalities/Scoliosis) syndrome. We describe the case of a young female patient, with anti-citrullinated peptide antibodies-positive rheumatoid arthritis, referred for persistent finger pain and stiffness. Examination revealed discrete macrodactyly involving two fingers, scoliosis, asymmetrical calves, venectasias, a shoulder nevus and triangular feet with a “sandal gap” between two toes. These mild dysmorphic features with early-onset and the history of surgeries for thoracic lipoma and venous malformation were strongly suggestive of CLOVES syndrome. Confirmatory mutation analysis was not performed, as blood or saliva testing is not contributive for tissue-specific localized effects in the PIK3CA-related overgrowth spectrum. Nevertheless, lack of detection of a PIK3CA mutation does not exclude the diagnosis in patients fulfilling clinical criteria. Due to the patient’s wish to plan a pregnancy, therapy consisted in sulfasalazine and hydroxychloroquine, along with orthotic correction of leg length discrepancy. Overgrowth syndromes and arthritis may share common pathways. Mild macrodactyly should be differentiated from dactylitis. Diagnosing patients with minimal dysmorphic features within the PI3K-related overgrowth spectrum may help design better care strategies, in the quest for personalized medicine.

The role of the plantar nerve in the pathogenesis of macrodactyly of the foot is unknown. We investigated the distribution of affected toes and forefoot in 27 feet of 26 patients with pedal macrodactyly, and how this relates to innervation of the affected plantar nerve. A preoperative ultrasound examination was performed to determine the diameter and structure of the plantar nerve. Histologic findings were recorded during surgery. The microstructure of affected plantar nerves was evaluated by hematoxylin-eosin staining, while S100 expression was assessed by immunofluorescence analysis. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene mutation in the affected nerve tissue was detected by Sanger DNA sequencing. The affected toes and forefoot involved innervation of the medial plantar nerve in 25/27 feet, the lateral plantar nerve in one foot, and both medial and lateral plantar nerves in one foot. All affected plantar nerves, which were accompanied by a fatty strip, were surrounded by or infiltrated with fat. The affected plantar nerves showed enlargement, a tortuous course, fatty infiltration, or a combination of these. Pathologic changes in affected plantar nerves involved only the epineurium and not the perineurium or endoneurium. Expression of the Schwann cell marker S100 was absent in some areas of affected nerves. Sequencing of PIK3CA exons identified a gain-of-function mutation (p.His1047Arg) in affected plantar nerves. These results indicate that pathologic impairment of the plantar nerve can lead to macrodactyly of the foot, which may be considered as a nerve trunk disease.

We describe a case of an adult patient presenting with cubital tunnel syndrome in the setting of previously undiagnosed macrodactyly. Early diagnosis and management of macrodactyly is important to help prevent symptoms associated with compromised peripheral nerves and reduce the likelihood of the permanent motor and sensory sequelae of prolonged nerve compression.

Objective Lipomatosis of nerve (LN) is a rare tumor-like condition with epineural and perineural infiltration by adipose and fibrous tissue. The purpose was to analyze the ultrasonographic findings of LN involving upper limb peripheral nerves. Methods This was a retrospective analysis of a series of 8 patients with LN involving upper-limb peripheral nerves between 2013 and 2019. All patients underwent preoperative ultrasonography for the upper-extremity nerves and were diagnosed as LN by surgery. The clinical manifestations, ultrasonography characteristics, and accuracy were analyzed. Results In this series, LN was involved in 10 peripheral nerves from 8 patients. The median nerve was the most commonly affected nerve (60%). Four cases presented macrodactyly combined with masses from distal forearm and extending to wrist and palm areas. Among 8 patients, 5 cases were diagnosed with LN by preoperative ultrasonography, an accuracy of 62.5%. Axial ultrasonic imaging showed the punctate hypoechoic fascicles was embedded in hyperechoic adipose tissue in the “lotus root–like” appearance; longitudinal ultrasonic imaging showed the strip hypoechoic fascicles alternates with hyperechoic adipose tissue in the “cable-like” appearance. Meanwhile, ultrasonic imaging showed the thickened of adipose tissue around the affected nerve and the enlargement of flexor tendons in some patients. Conclusions Ultrasonography has the potential to be a useful tool for the noninvasive examination of LN. The possibility of LN should be considered in patients with a mass in wrist and palm, macrodactyly, or syndactyly. Our finding may benefit the preoperative differential diagnosis with common nerve tumors.

This case report presents a lipofibromatous hamartoma of the median nerve in a 31-year-old man who presents local deformity and a sensory deficit in the nerve territory. The tumor was evaluated with magnetic resonance, computed tomography, and plain film radiography, studying the pathognomonic findings of this tumor. The patient did not want surgical treatment because of prior surgical sequelae. A prior surgical biopsy was reported as a peripheral nerve with normal axonal fascicles surrounded by abundant fibroadipose tissue. This tumor has a low incidence with less than 180 cases reported in the literature., {"references":["Al-Jabri T, Garg S, Mani GV. Lipofibromatous hamartoma of the median nerve. J Orthop Surg Res. 2010;5:71. doi: 10.1186/1749-799X-5-71.","Toms AP, Anastakis D, Bleakney RR, Marshall TJ. Lipofibromatous hamartoma of the upper extremity: a review of the radiologic findings for 15 patients. AJR Am J Roentgenol. 2006;186: 805-11. doi: 10.2214/AJR.04.1717.","Tahiri Y, Xu L, Kanevsky J, Luc M. Lipofibromatous hamartoma of the median nerve: a comprehensive review and systematic approach to evaluation, diagnosis, and treatment. J Hand Surg Am. 2013;38:2055-67. doi: 10.1016/j.jhsa.2013.03.022.","Nilsson J, Sandberg K, Søe Nielsen N, Dahlin LB. Magnetic resonance imaging of peripheral nerve tumours in the upper extremity. Scand J Plast Reconstr Surg Hand Surg. 2009;43:153-9. doi: 10.1080/02844310902734572.","Nardella D, Sohawon S, Carlier A. Lipofibromatous hamartoma of the median nerve. Three case reports. J Plast Reconstr Aesthet Surg. 2009;62 :e314-7. doi: 10.1016/j.bjps.2007.11.061.","Cavallaro MC, Taylor JA, Gorman JD, Haghighi P, Resnick D. Imaging findings in a patient with fibrolipomatous hamartoma of the median nerve. AJR Am J Roentgenol. 1993;161:837-8. doi: 10.2214/ajr.161.4.8372770.","Kara M, Ozcakar L, Ekiz T, Yalçın E, Tiftik T, Akyüz M. Fibrolipomatous hamartoma of the median nerve: comparison of magnetic resonance imaging and ultrasound. PM R 2013;5:805-6. doi: 10.1016/j.pmrj.2013.03.026.","Okechi H, Dimostheni A, Kerscher SR, Gugel I, Bevot A, Schaefer JF, et al. Fibrolipomatous hamartomas of the median nerve in infancy and early childhood-imaging hallmarks, symptomatology, and treatment. Eur J Pediatr. 2018; 177 :567-73. doi: 10.1007/s00431-018-3100-7.","Giuliano V, Outwater EK, Mitchell DG, Burke MA. Median nerve hamartoma: MR imaging using chemical shift techniques. Magn Reson Imaging. 1997;15:1091-4. doi: 10.1016/s0730-725x(97)00155-0."]}

Congenital pathologies of the forefoot encompass two broad entities with vastly different treatments and prognosis: malformations, which occur during the embryonic period and cause anatomical defects, and deformations, which occur during the fetal period on a foot that is configured normally. These deformities are more easily cured when they occur later during the fetal period. When the anomaly is bilateral, a genetic origin must be considered. There are two main entities under the term "deformity": metatarsus adductus and skewfoot (aka "Z"-foot or serpentine foot). Within malformations are brachydactyly (transverse defects), longitudinal defects, syndactyly, polydactyly, clinodactyly and macrodactyly. Among other forefoot abnormalities are hallux valgus, which rarely presents in congenital form, and for which conservative treatment is sometimes sufficient. Also in this group are sequelae of amniotic band constriction, forefoot anomalies secondary to the treatment of congenital pathologies (talipes equinovarus and congenital vertical talus) and nail-related pathologies (ingrown toe nail and incorrect nail position).

Congenital lipomatous overgrowth with vascular malformations, epidermal nevi, and skeletal anomalies (CLOVES) syndrome 1 belongs to the spectrum of overgrowth syndromes caused by postzygotic mosaic activating mutations in PIK3CA.2 CLOVES syndrome is rare. The diagnosis of CLOVES syndrome relies on clinical presentation and imaging studies, and can be proven by molecular genetics. This article is protected by copyright. All rights reserved.

Background. At present, there are multiple approaches to the treatment of macrodactylia in children. Additionally, there are no comparative data on the cosmetic and functional aspects of corrective surgery versus microsurgical transplantations performed in children with a marked disproportion of the segment, making this study particularly relevant. Aim. The aim of this study was to determine the role of microsurgical transplantation of the toes in the treatment of children with isolated macrodactylia, based on a comparative analysis of various surgical interventions. Materials and methods. Twenty-five children with congenital macrodactylia of the hand were examined and surgically treated in the department of reconstructive microsurgery from 2013 to 2017. Of these, 13 (52%) had macrodactyly of the 2nd and/or 3rd fingers, and of the total number of hyperplastic hand segments (n = 45), 17 rays had hyperplasia greater than 25%. Results and discussion. Stage-by-stage modeling resections of enlarged segments were performed in all children with ray hyperplasia that was about 25% of the size of intact fingers. In 4 cases, excision of soft tissues was combined with marginal resection of phalanges. When hyperplasia of the segment reached up to 10% of macrodactylia, single isolated modeling resection of soft tissues and bones was performed. Repeated modeling plasties in 16% (n = 4) of the children were accompanied by gross postoperative scars with the development of secondary angular deformities and loss of function of interphalangeal joints. Nine children (n = 14) underwent amputation of hyperplastic fingers followed by microsurgical reconstruction of rays by autografting of toes. In 4 cases, the first finger was reconstructed, and in the other 5 cases, toes of both feet were transplanted to the positions 2 and 3 (n = 4) or 3 and 4 of fingers (n = 1). It was found that in cases of significant hyperplasia of the affected segments of the hand (hyperplastic segment is 1.5–2 times greater compared to normal ones), microsurgical autografting of toes is more effective and acceptable compared to bone and soft tissue resections. Conclusions. In cases of segment hyperplasia less than 1.25-times the normal size, the optimal surgical interventions are stage-by-stage modeling resections. An alternative surgical treatment for children with hyperplasia of more than 1.25-times the normal size is microsurgical transplantation of the toes in the position of the involved rays of the hand, which results in good cosmetic and functional outcomes in these patients.

Congenital digital deformities of the foot represent a diverse group of malformations. Most of them are noted at birth and can become symptomatic later in life. While some of the deformities are a source of purely cosmetic concerns to the patient, others may be associated with significant pain and gait abnormalities. Many of these deformities are recalcitrant to conservative treatment and may require surgical correction if symptomatic. Timing of surgery and procedure selection should be determined on a case-by-case basis. Risks of anesthesia should be discussed. As with any pediatric condition, it is essential to educate caretakers on the etiology and treatment modalities to minimize anxiety and enhance compliance. It is also important to educate families on available conservative methods to decrease recurrence if such exists. This chapter will review the pathophysiology, classification, evaluation, and treatment options for some of the most common digital deformities, polydactyly, syndactyly, macrodactyly, and underlapping and overlapping toes, as well as some of the various syndromes associated with digital deformities.

Somatic PIK3CA mutations may relate to pathogenesis of isolated macrodactyly. We set up to test the association between PIK3CA mutations with isolated macrodactyly in order to establish a more accurate and molecular mechanism-based diagnosis and classification. DNA extracted from affected tissues in 12 individuals with isolated macrodactyly was tested for PIK3CA mutation using targeted Sanger DNA sequencing. Ten patients had macrodactyly in the foot and two in the hand. Nine of the 12 patients were found to carry a low-level, mosaic PIK3CA mutation. The mutations identified, p.His1047Arg, p.His1047Leu, p.Glu545Lys, and p.Glu542Lys, are codons frequently mutated in cancers. Among all tissues tested, adipose had the highest mutation detection rate, followed by nerve and skin. Our results indicate that a high proportion of isolated macrodactyly patients carry a pathogenic PIK3CA mutation. Affected adipose, nerve and skin tissues are ideal for PIK3CA mutation analysis.

The aim of this study was to describe the strategies adopted in this institution to diagnose and treat patients with benign tumors affecting the median nerve.A retrospective chart review study of all patients operated on between 2010 and 2015. Histology, symptoms, complementary exams, surgical techniques performed, and demographic characteristics were analyzed.Fifty-four patients were included in the study. There were three neurofibromas, six schwannomas, 15 lipofibromatous hamartomas, three hemangiomas, 12 lipomas, one benign fibrohistiocytoma, and 14 synovial cysts. Complete tumoral resection was performed in 32 cases, partial resection in five, segmented nerve resection in one, nerve decompression in eight, and amputation for macrodactyly in eight.The most important recommendations on treating benign tumors of the median nerve are related to the clinical symptoms, tumoral growth, and tumoral nature. The surgical approach resulted in good function for 60% of the patients. However, lipofibromatous hamartomas, hemangiomas, and neurofibromas were associated with preoperative functional deficit. It may be inferred that the diagnosis and treatment of these tumors should be performed earlier.O objetivo deste estudo foi descrever as estratégias adotadas nesta instituição para o diagnóstico e tratamento de pacientes com tumores benignos que afetam o nervo mediano.Um estudo de revisão retrospectivo foi realizado com todos os pacientes operados entre 2010 e 2015. Foram analisados histologia, sintomas, exames complementares, técnicas cirúrgicas realizadas e características demográficas.O estudo incluiu 54 pacientes. Observou-se três casos de neurofibromas, seis schwannomas, 15 hamartomas lipofibromatosos, três hemangiomas, 12 lipomas, um fibrohistiocitoma benigno e 14 cistos sinoviais. Em 33 casos, foi feita ressecção tumoral completa; em cinco, ressecção parcial; em um, ressecção segmentar de nervo; em oito, descompressão de nervo; e em oito, amputação de macrodactilia.As recomendações mais importantes no que diz respeito ao tratamento de tumores benignos do nervo mediano estão relacionadas aos sintomas clínicos, crescimento tumoral e natureza tumoral. A abordagem cirúrgica levou a bons resultados funcionais em 60% dos pacientes. No entanto, hamartomas lipofibromatosos, hemangiomas e neurofibromas foram associados ao déficit funcional pré-operatório. Pode-se inferir que o diagnóstico e o tratamento destes tumores devem ser realizados de forma precoce.

A fibrolipomatous hamartoma (FLH) is a rare lesion leading to an enlargement of the affected nerve and commonly manifests at the median nerve. Symptomatic patients are mostly adolescents or adults. In children below 10 years, this entity is rather unknown and likely to be misdiagnosed. We report three children with FLH, two severely and one mildly symptomatic, all below 4 years of age at the time of first presentation. Two of three children were initially misdiagnosed. We provide a review of the pertinent clinical and radiological findings of the entity. Two patients had a characteristic macrodactyly. The two symptomatic children underwent surgical carpal tunnel decompression. The intervention relived their symptoms with a long-lasting effect. Surgical reduction of the hamartoma mass is not indicated and medical treatment non-existent.A symptomatic FLH of the median nerve is rare in children below the age of 5 years but has to be kept in mind as differential diagnosis in case of wrist and/or palm swelling, macrodactyly, and pain in hand or forearm. MRI is diagnostic, with very characteristic features, which can also be identified in high-resolution nerve ultrasound. This article aims to increase the knowledge about the entity including the diagnostic features and the management options. What is Known: • Fibrolipomatous hamartomas (FLHs) of the median nerve are rare, possibly associated with macrodactyly and tissue growth at the wrist and thenar side of the palm. • An associated carpal tunnel syndrome typically occurs, if at all, in adulthood. What is New: • We describe two children below 4 years with symptomatic carpal tunnel syndrome, experiencing a long-lasting favorable outcome after carpal tunnel decompression. In this age group, only one other child undergoing surgery has been published so far. • MRI and high-resolution ultrasound demonstrate the characteristic features of FLHs and are the diagnostic modalities of choice. Biopsy is not recommended.

Lipofibromatous hamartoma is a rare tumour-like condition involving the peripheral nerves, particularly the median nerve. It commonly affects the volar aspect of the hands, wrists and forearms of young adults. Most patients present either early with macrodactyly or later with a forearm mass lesion or symptoms consistent with compressive neuropathy of the involved nerve. The clinical and histomorphological findings of five patients with lipofibromatous hamartoma of the median nerve are analysed. The presentation, pathological features and differential diagnosis of neural lipofibromas are discussed along with a brief review of the literature. Of the five cases of lipofibromatous hamartoma, all were seen to involve the median nerve, occurring in four women and one man. Three of these cases had associated macrodactyly which was congenital in two and was seen from childhood in one. Microscopic examination showed fibrofatty tissue surrounding and infiltrating along the epineurium and perineurium. The nerve bundles were splayed apart by the infiltrating adipose tissue. Neural fibrolipomatous hamartoma is a benign condition. Most respond to conservative management with surgical exploration, biopsy and carpal tunnel release to decompress the nerve. Correct diagnosis of this uncommon lesion is important as surgical excision of the lesion may lead to loss of neurological function.

Tuberous sclerosis complex is a genetic disease that results in abnormal cellular proliferation and hamartoma growths in multiple organ systems. However, macrodactyly and subcutaneous fibrous harmatomas are very uncommon associations with this disease. We see these rare manifestations in our case report of a 16-year-old female with tuberous sclerosis complex and discuss the imaging findings and pathogenetics of these manifestations. Through this, our report aims to expand the known clinical spectrum of features seen in tuberous sclerosis and aid in its diagnosis.

Dysplasia of the main veins is one of the little-studied problems of childhood, which often leads to the erroneous diagnosis and the wrong treatment tactics of this defect. In the angiomyrosurgical department of the Federal State Sanitary and Epidemiological Service, there were 270 children with dysplasia of the main veins in the SPbGPMU of the Russian Ministry of Health. The appearance of children with dysplasia of the main veins, in the "classical" version, is very characteristic. The extremity is disproportionately increased in volume and elongated. Smooth or bulging vascular spots are observed on the skin (often outside) as a geographical map, cyanotic (purple, "port wine") color. The pathognomonic sign is the presence of an embryonic vein, the trunk of which is of different length and caliber (from 3 to 25 mm) passes along the outer or anterior-external surface of the limb. Sometimes there is gigantism of feet, macrodactyly, syndactyly. However, the above classic clinical picture, which allows confidently diagnose dysplasia of the main veins, is not always revealed. In this regard, we examined the general, characteristic for the majority of patients factors, and those that are most important in determining the severity of the lesion in the preoperative period are identified. We propose a scheme of rational approach to the examination and treatment of sick children (270 patients), which should help optimize the treatment of patients with this malformation. It is established that the volume and type of surgical interventions depend on the type of defect and severity of the lesion.

Supplemental Digital Content is available in the text., Summary: Macrodactyly is a rare and debilitating pediatric hand anomaly that has historically been treated with amputation. Recent advances in our understanding of macrodactyly have increasingly implicated the digital nerve as the underlying cause of the condition. In addition, much progress has been made toward digital salvage in treating macrodactyly. Modern techniques often advocate for digital nerve resection to prevent recurrence and treat the underlying etiology. However, little if any emphasis has been given to sensory reconstruction for purposes of protective sensation and acceptable 2-point discrimination at the volar digital pulp. We report 2 cases of macrodactyly treated with digital nerve resection and nerve allograft reconstruction of large sensory nerve gaps which show early promising sensory outcomes. There remain little if any data on the use of nerve allograft in pediatric populations, and its application in the treatment of macrodactyly. This technique permits digit salvage with the potential for improved sensory outcomes without the donor morbidity of autologous nerve harvest.

Proteus syndrome (PS) is an extremely rare and sporadic disorder characterized by asymmetric and/or disproportionate overgrowth of limbs, hamartomas, and vascular malformations. The onset of overgrowth usually involves the skin, bone, fat, and other connective tissues in a patchy or mosaic pattern. Partial gigantism of the affected limb or digit is a pathognomonic sign of PS. Thus far, only a few cases of PS have been recorded in the literature. In the present report, a case of PS in a 35-year old woman with classic cerebriform plantar hyperplasia and macrodactyly of the left foot was documented. The clinical and molecular characteristics and differential diagnosis of PS are also discussed in this report.

Lipofibromatous Hamartoma (LFH) is a rare tumour affecting the peripheral nerves, mostly the median nerve. It is benign and slowly growing. Less than 100 cases have been reported in the literature, about one quarter of them are associated with macrodactyly in the field of the affected nerve. We reported a case of a 13 years old female with LFH of the median nerve at the level of the wrist associated Macrodactyly of the ipsilateral middle finger treated surgically by decompression only.

Macrodactyly in the context of tuberous sclerosis complex (TSC) is a known but rare manifestation. We report the case of a boy diagnosed with TSC at 2 years and 4 months of age, presenting with bilateral macrodactyly of the first three fingers of both hands, with underlying radiographic changes, in whom molecular analysis identified a frameshift mutation on the TSC1 gene (encoding hamartin), leading to a premature stop codon. We reviewed the literature for reported cases of TSC patients with the same manifestation. In four of 14 patients, including ours, macrodactyly caused some type of joint limitation or flexion deformity, thus contradicting the established idea that this is a finding without clinical significance. Our patient is, to our knowledge, the first reported to have clear bilateral involvement. We briefly discuss the underlying mechanism for this phenomenon, which has yet to be fully elucidated, although somatic mosaicism for loss of heterozygosity at TSC loci is a plausible explanation. © 2016 Wiley Periodicals, Inc.

Made available in DSpace on 2018-12-11T16:59:38Z (GMT). No. of bitstreams: 0 Previous issue date: 2015-10-01. Added 1 bitstream(s) on 2019-10-09T18:30:05Z : No. of bitstreams: 1 S1677-54492015000400346.pdf: 1096369 bytes, checksum: e7aa7d5fde0921748c91b8a930800c14 (MD5) Proteus syndrome is a rare combination of malformations that can affect several tissues and organs. It is characterized by bilateral macrodactyly, cranial hypertrophy, bone anomalies, scoliosis, soft-tissue hamartomas, verrucous pigmented nevus, visceral abnormalities and other forms of hypertrophy. Just over 200 cases have been reported worldwide. This article reports on the clinical course of a pediatric patient with this syndrome. The child had severe malnutrition associated with extreme gigantism of the lower limbs and also psychosocial problems related to social exclusion. As the disease progressed it exacerbated and evolved into a wasting syndrome. After several years, the parents agreed to amputation of the hypertrophic lower limbs. One year after the amputations the child had been rehabilitated and had adapted to prostheses, with nutritional improvement and notable psychological recovery and social reintegration, which represented a significant improvement in his quality of life. Universidade Estadual Paulista – UNESP Department of Surgery and Orthopedics Universidade Estadual Paulista – UNESP Department of Pediatrics Universidade Estadual Paulista – UNESP Department of Surgery and Orthopedics Universidade Estadual Paulista – UNESP Department of Pediatrics