Verrucous Venous Malformation-Subcutaneous Variant.

BACKGROUND: Verrucous venous malformation (VVM), previously called "verrucous hemangioma," typically involves the dermis and the subcutaneous fat. We have encountered patients with VVM confined to the hypodermis. MATERIALS AND METHODS: During a nearly 20-year period, 13 patients, aged 2-17 years, presented with a subcutaneous mass in the limb without clinically obvious epidermal alterations. Consequently, operative excisions did not include the skin. RESULTS: Histopathologically, the specimens were composed of blood-filled channels with morphologic characteristics of capillaries and veins that infiltrated adipose tissue. Aggregates often formed nodules with variable fibrosis and a component of large and radially oriented vessels. A diagnosis of VVM was supported by endothelial immunopositivity for GLUT-1 (25%-75% immunopositive channels in 16/16 specimens); D2-40 (1%-25% channels in 14/15 specimens); and Prox-1 (1%-50% of channels in 14/16 specimens). A MAP3K3 mutation was identified by droplet digital PCR in 3 of the 6 specimens. CONCLUSIONS: Diagnosis of VVM in this uncommon location is challenging because of absence of epidermal changes and lack of dermal involvement. Imaging is not pathognomonic, and mimickers are many. Appropriate immunohistochemical stains and molecular analysis contribute to the correct diagnosis.

Quantification of popliteal artery narrowing with QISS MRA during active ankle plantarflexion in healthy, asymptomatic volunteers and its potential application in the diagnosis of popliteal artery entrapment syndrome (PAES).

OBJECTIVE: To assess the degree of narrowing of the popliteal artery during active ankle plantar flexion in healthy volunteers using a non-contrast quiescent-interval single-shot (QISS) magnetic resonance angiography (MRA) technique. MATERIALS AND METHODS: Following IRB approval, 10 healthy volunteers were recruited and following informed consent underwent QISS MRA of the lower extremity at rest and during ankle plantarflexion. Two pediatric musculoskeletal radiologists independently reviewed MR images in random order and recorded a number of subjective and objective anatomic variables including branch pattern, proximity of vessel to bony structures, gastrocnemius bulk, and presence of accessory muscle. Arterial narrowing with plantarflexion was recorded by a subjective assessment of 3D reconstructions (negligible or non-negligible) and objectively by measuring the narrowest diameter during plantarflexion and at rest. Agreement between reader scores was assessed using the concordance correlation coefficient (CCC) for continuous variables, and kappa and the proportion of agreement for categorical variables. RESULTS: Mean reduction in arterial diameter during plantar flexion was 17.1% (min 1.9%, max 64.1%, SD 16.7%) for reader 1 and 17.2% (min 1.7%, max 50.0%, SD 14.3%.) for reader 2 with high agreement between readers: CCC = 0.92 and CI = 0.82, 0.96. Arterial narrowing was described subjectively as "non-negligible" in 7/20 legs by reader 1 and 5/20 legs by reader 2 with proportion of agreement = 0.90, CI (0.77, 1.00). CONCLUSION: We observed a wide range of popliteal arterial narrowing with plantarflexion in asymptomatic volunteers. Larger studies, for which QISS is well suited, may be invaluable for distinguishing physiologic from pathologic arterial narrowing in patients with suspected popliteal artery entrapment syndrome (PAES).

Cleft Lip and Palate in Ectodermal Dysplasia.

OBJECTIVE: Ectodermal dysplasia (ED) comprises multiple syndromes that affect skin, hair, nails, and teeth, and sometimes are associated with orofacial clefting. The purpose of this study is to (1) identify the prevalence and characteristics of cleft lip and/or palate (CL/P) in patients with ED and (2) describe the management and outcomes. DESIGN: Retrospective review from 1990 to 2019. PATIENTS: All patients with ED treated at Boston Children's Hospital. MAIN OUTCOMES MEASURES: Prevalence of CL/P was calculated and clinical details recorded: phenotypic anomalies, cleft type, operative treatment, and results of repair. RESULTS: Of 170 patients with a purported diagnosis of ED, 24 (14%) had CL/P. Anatomic categories were bilateral CL/P (67%), unilateral CL/P (8%), and cleft palate only (25%). The most common ED syndrome (37%) was ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC). Pathogenic variants in TP63 were the most frequent finding in the 11 patients who had genetic testing. Aberrations from a typical clinical course included failure of presurgical dentofacial orthopedics, dehiscence of nasolabial adhesion, and total palatal absence requiring free-flap construction. Two patients had prolonged postoperative admission for respiratory infection. High fistula (8%) and velopharyngeal insufficiency (33%) rates reflected the predominance of bilateral complete forms. CONCLUSIONS: As in other types of syndromic CL/P, cleft phenotypic expression in ED is more severe than the general cleft population. Further studies are needed to correlate genotype and phenotype for the distinct syndromes included in the ED spectrum.

Digital Transfer for Hand Reconstruction in Cleft Hand and Foot Differences.

BACKGROUND: Digital transfer for hand reconstruction in children with cleft hand and foot differences present unique challenges with anomalous anatomy and rare opportunities to dramatically improve function of one- or two-digit hands. METHODS: Medical records were reviewed for patients with cleft hand and foot treated at two pediatric institutions between 1996 and 2018. Hospital records, clinical photographs, radiographs, and alginate molds were available on all patients. Patient characteristics, indications for transfer, associated syndromes, donor and recipient anatomy, and complications were examined. RESULTS: Twenty digital transfers were identified in 16 patients. The mean age at time of transfer was 6 years (range: 3-18 years). Associated syndromes in this study included ectrodactyly ectodermal dysplasia clefting (EEC) syndrome and Goltz's syndrome. Recipient sites included the thumb (n = 17) and index ray (n = 3) in 10 hands with monodactyly, 6 hands with a two-digit ulnar syndactyly, and 3 hands with central deficiency and associated polydactyly or other anomalies. Donor sites included the great toe (n = 7), fifth toe (n = 9), great toe polydactyly (n = 2), thumb polydactyly (n = 1), and second toe (n = 1). All transfers survived. Revisions included tenolysis (n = 2), repeat fixation for nonunion or malunion (n = 2), and fusion for instability (n = 3). CONCLUSION: Digital transfer in cleft hand and foot patients is a functional endeavor. The transferred digits provide sensation, mobility, and stability for opposition. Technically challenging due to small structures and atypical anatomy, these rare cases represent unique opportunities to improve function and appearance in the pediatric hand. This is a therapeutic study and reflects level of evidence IV.

Fibroadipose Vascular Anomaly in the Upper Extremity: A Distinct Entity With Characteristic Clinical, Radiological, and Histopathological Findings.

PURPOSE: Fibroadipose vascular anomaly (FAVA) is an intramuscular vascular malformation that has been recently described as a distinct clinical entity. The clinical, radiological, and histopathological characteristics of FAVA in the upper extremity are reviewed. METHODS: This was a retrospective case series of upper-extremity FAVA lesions. RESULTS: We reviewed 19 patients with FAVA of the upper limb. Pain, stiffness, swelling, and flexion contractures were the most common presentations. Except for one lesion confined to the hand, all lesions either presented with or developed a contracture within 10 years. Ten patients underwent surgical debulking. Six required tendon transfer reconstruction and 3 necessitated a free functional muscle transfer. CONCLUSIONS: Fibroadipose vascular anomaly in the upper extremity requires an accurate diagnosis and may benefit from early referral to a multidisciplinary vascular anomaly center with experienced hand surgeons. Compression garments, propranolol, and sclerotherapy seem to be ineffective. Surgical resection focused on symptomatic regions with appropriate reconstruction may have benefit in salvage of limbs with compromised function. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Preputial Grafts: The Forgotten Donor Site.

BACKGROUND: The prepuce is an excellent donor site for skin grafts with minimal donor site morbidity. Full-thickness grafts are often required for correction of congenital syndactyly and in burn contractures. METHODS: Preputial skin was used for grafting in 18 children: 5 with burn contractures and 13 with congenital syndactyly. RESULTS: Excellent graft take was achieved with appropriate postoperative care. Postoperatively, there were occasional milia (42%) and hyperpigmentation. These grafts were noted to have superior mobility and elasticity. There was no donor site morbidity. CONCLUSIONS: Preputial skin is accessible, easy to harvest, and hairless and has minimal donor site morbidity. It is especially well suited for the hands and fingers when elasticity of the graft is beneficial.

Long-term Outcomes After Flap Reconstruction in Pediatric Pressure Ulcers.

BACKGROUND: Pressure ulcers refractory to nonoperative management may undergo flap reconstruction. This study aims to evaluate the long-term outcomes and recurrence rates of flap reconstruction for pediatric pressure ulcers. METHODS: We reviewed the records of patients who underwent flap reconstruction for pressure ulcer(s) from 1995 to 2013. RESULTS: Twenty-four patients with 30 pressure ulcers, requiring 52 flaps were included. Ulcers were stages III and IV and mostly involved either the ischia (15/30) or sacrum (8/30). Flaps were followed for a median of 4.9 years. Twenty-three patients were wheelchair dependent, and 20 had sensory impairment at their ulcer site(s). Ten patients had a history of noncompliance with preoperative management, 8 of whom experienced ulcer recurrence. Twenty-one ulcers had underlying osteomyelitis, associated with increased admissions (P = 0.019) and cumulative length of stay (P = 0.031). Overall, there was a 42% recurrence rate in ulceration after flap reconstruction. Recurrence was associated with a preoperative history of noncompliance with nonoperative therapy (P = 0.030), but not with flap type or location, age, sex, body mass index, osteomyelitis, or urinary/fecal incontinence (P > 0.05, all). CONCLUSIONS: Flap reconstruction can be beneficial in the management of pediatric pressure ulcers. Although high rates of long-term success with this intervention have been reported in children, we found rates of ulcer recurrence similar to that seen in adults. Poor compliance with nonoperative care and failure to modify the biopsychosocial perpetuators of pressure ulcers will likely eventuate in postoperative recurrence. Despite the many comorbidities observed in our patient sample, compliance was the best indicator of long-term skin integrity and flap success.

Double Supercharged Jejunal Interposition for Late Salvage of Long-gap Esophageal Atresia.

BACKGROUND: A variety of surgical techniques exist to manage long-gap esophageal atresia (LGEA), including gastric pull-up (GPU), colonic interposition (CI), jejunal interposition (JI), and distraction lengthening. Salvage reconstruction for late failure of any conduit type is a complex surgical problem fraught with technical difficulty and significant risk. Jejunal interposition can be used as a salvage procedure in the management of LGEA. However, the opposing requirements of conduit length and adequate perfusion make the procedure technically challenging. Chronic comorbidities and abdominal and thoracic adhesions may further complicate these cases. METHODS: We report a technique for the management of 3 late treatment failures of LGEA using pedicled JI in conjunction with 2 additional arterial and venous anastomoses, or double supercharging. For 2 patients who presented with failed CI, pedicled JI was performed and supercharged to internal mammary vessels as well as vasculature preserved from the prior colonic flap mesentery. The third patient presented with failed GPU and underwent pedicled JI that was supercharged caudally to the gastroepiploic vessels and cranially to the left common carotid artery. RESULTS: No flaps were lost in any patients. Median operation time was 16.5 hours. Patients were monitored postoperatively in the intensive care unit for a median of 23 days, extubated after 14 days, and discharged at 41 days. Postoperatively, all patients tolerated an oral diet by discharge and continue to enjoy oral intake of all food consistencies without dysphagia or aspiration. Follow-up time spanned 2 to 4 years (average, 3.3 years). One patient required dilatations and temporary stent for stricture, and another required removal of prominent sternal wires; otherwise, no additional procedures were performed. CONCLUSIONS: Although technically difficult, double supercharged JI should be considered as a salvage operation to restore esophageal continuity after CI or GPU failure for LGEA, when there are otherwise limited reconstructive options.

Vascular Anomalies.

Vascular anomalies encompass a wide variety of clinical conditions involving the vasculature. Over the past several decades, the terminology has changed as our understanding of these conditions has improved. A well-accepted classification scheme has evolved with constant additions, updates, and revisions. Imaging techniques have also advanced with greater resolution and a better understanding of the correlation between imaging, clinical behavior, and natural history. Meanwhile, the treatment of these conditions has also changed, with greater focus on minimally invasive techniques as opposed to radical surgery. Despite these changes, surgical intervention remains a high-value option for select patients. With greater understanding of the molecular basis of these diseases, medical treatment has improved especially in severe cases where options remain limited. A multidisciplinary approach to comprehensive patient care usually yields the best outcome and is strongly encouraged.

Central Coalition Osteotomy of Phalangeal Synostoses in the Management of the Type III Apert Hand.

PURPOSE: We report a technique in the management of the type III Apert hand. The proposed approach facilitates the creation of a 5-fingered hand in 3 stages. METHODS: We reviewed records of patients with Apert syndrome and type III hands surgically treated at our institution from 1995 through 2014. In all cases, syndactyly release was performed in 3 stages with prioritization of the border digits. In addition, limited retrograde, axial osteotomies between the phalangeal segments of the conjoined index, middle, and ring fingers were performed during the first stage. Medical records were reviewed for demographics, clinical presentation, operative findings, and postoperative outcomes. RESULTS: Twelve pediatric patients with type III hands underwent syndactyly release. Median patient age was 10.0, 15.8, and 29.6 months at operative stages 1, 2, and 3, respectively. A thumb and 4 fingers were achieved for all but 1 hand. The median duration of hospital stay was 2 days for each stage. No infections or major complications were observed. CONCLUSIONS: We demonstrate this method as a safe and effective means of creating 5 digits in the Apert patient with type III hands. Our opinion is that the additional aesthetic and functional gains offset the requirement of a 3-stage approach. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis.

BackgroundFacial infiltrating lipomatosis (FIL) is a congenital disorder that causes overgrowth of one side of the face. The purpose of this study was to determine whether PIK3CA mutations are present in tissues outside of the subcutaneous adipose.MethodsFIL tissues from three patients were dissected to enrich for cells from skin, subcutaneous tissue, orbicularis oris muscle, buccal fat, zygomatic bone, and mucosal neuroma. Endothelial cells within the affected tissue also were enriched using CD31 microbeads. Laser capture microdissection on formalin-fixed paraffin-embedded histologic sections was performed to collect specific cell types. DNA was extracted from each tissue and cell type, and measured for the abundance of mutant PIK3CA alleles using droplet digital PCR.ResultsWe detected mutant PIK3CA alleles in every tissue and cell type tested from each overgrown face; frequencies ranged from 1.5 to 53%. There were fewer mutant endothelial cells compared with nonendothelial cells, and the stromal cell compartment had the highest frequency of mutant cells in each tissue.ConclusionsPIK3CA mutations are not restricted to a single tissue or cell type in FIL. Overgrowth in this condition is likely due to the mutation arising in a cell that contributes to several different facial structures during embryogenesis.

Overgrowth of the Hand and Upper Extremity and Associated Syndromes.

The family of overgrowth disorders affecting the hand and upper extremity constitutes a wide spectrum of clinical phenotypes. These conditions and malformations may be isolated to the upper limb or part of an underlying syndrome. When present, these conditions will challenge even the most experienced hand surgeon. Overlapping clinical presentations and a lack of insight into the fundamental pathogenesis that drives overgrowth in these conditions have created confusion in diagnosis and classification, and have also hampered treatment outcome research. In recent years, advances in molecular biology have identified genetic mutations within the affected tissues of overgrowth patients that appear to mediate these disorders. This may elucidate further understanding, classification, and treatment of these conditions. The purpose of this article is to discuss a range of overgrowth conditions, review some of the newer biological insights, and delineate the general treatment principles.

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.

OBJECTIVES: To test the hypothesis that somatic phosphatidylinositol-4,5-bisphospate 3-kinase, catalytic subunit alpha (PIK3CA) mutations would be found in patients with more common disorders including isolated lymphatic malformation (LM) and Klippel-Trenaunay syndrome (KTS). STUDY DESIGN: We used next generation sequencing, droplet digital polymerase chain reaction, and single molecule molecular inversion probes to search for somatic PIK3CA mutations in affected tissue from patients seen at Boston Children's Hospital who had an isolated LM (n = 17), KTS (n = 21), fibro-adipose vascular anomaly (n = 8), or congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies syndrome (n = 33), the disorder for which we first identified somatic PIK3CA mutations. We also screened 5 of the more common PIK3CA mutations in a second cohort of patients with LM (n = 31) from Seattle Children's Hospital. RESULTS: Most individuals from Boston Children's Hospital who had isolated LM (16/17) or LM as part of a syndrome, such as KTS (19/21), fibro-adipose vascular anomaly (5/8), and congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies syndrome (31/33) were somatic mosaic for PIK3CA mutations, with 5 specific PIK3CA mutations accounting for ∼ 80% of cases. Seventy-four percent of patients with LM from Seattle Children's Hospital also were somatic mosaic for 1 of 5 specific PIK3CA mutations. Many affected tissue specimens from both cohorts contained fewer than 10% mutant cells. CONCLUSIONS: Somatic PIK3CA mutations are the most common cause of isolated LMs and disorders in which LM is a component feature. Five PIK3CA mutations account for most cases. The search for causal mutations requires sampling of affected tissues and techniques that are capable of detecting low-level somatic mosaicism because the abundance of mutant cells in a malformed tissue can be low.

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

BACKGROUND: The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the nonmosaic state. METHODS: We performed exome sequencing of DNA from biopsy samples obtained from patients with the Proteus syndrome and compared the resultant DNA sequences with those of unaffected tissues obtained from the same patients. We confirmed and extended an observed association, using a custom restriction-enzyme assay to analyze the DNA in 158 samples from 29 patients with the Proteus syndrome. We then assayed activation of the AKT protein in affected tissues, using phosphorylation-specific antibodies on Western blots. RESULTS: Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis. Tissues and cell lines from patients with the Proteus syndrome harbored admixtures of mutant alleles that ranged from 1% to approximately 50%. Mutant cell lines showed greater AKT phosphorylation than did control cell lines. A pair of single-cell clones that were established from the same starting culture and differed with respect to their mutation status had different levels of AKT phosphorylation. CONCLUSIONS: The Proteus syndrome is caused by a somatic activating mutation in AKT1, proving the hypothesis of somatic mosaicism and implicating activation of the PI3K-AKT pathway in the characteristic clinical findings of overgrowth and tumor susceptibility in this disorder. (Funded by the Intramural Research Program of the National Human Genome Research Institute.).

Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity.

BACKGROUND: The diagnosis and management of vascular anomalies of the extremities can be challenging as these disorders are uncommon and may clinically overlap. The aim of this paper is to describe the clinical, radiologic, and histopathologic features of fibro-adipose vascular anomaly (FAVA), a previously unrecognized disorder of the limb. METHODS: The clinical, imaging, operative, and histopathologic data from patients with a unique intramuscular lesion of the extremities comprising dense fibrofatty tissue and slow-flow vascular malformations were retrospectively reviewed. RESULTS: Sixteen patients diagnosed with FAVA of the extremity (3 male and 13 female individuals) met the clinical, radiologic, and histopathologic inclusion criteria. The age at presentation ranged from the time of birth to 28 years. The locations of the lesions were: calf (n=10), forearm/wrist (n=3), and thigh (n=3). Fourteen patients presented with severe pain. Seven of the patients with calf lesions had limited ankle dorsiflexion. On imaging, the complex intramuscular lesions replaced muscle fibers with fibrofatty overgrowth and phlebectasia (dilation of the veins). The extrafascial component comprised fatty overgrowth, phlebectasia, and an occasional lymphatic malformation. The histopathologic features comprised dense fibrous tissue, fat, and lymphoplasmacytic aggregates within atrophied skeletal muscle. Adipose tissue also infiltrated skeletal muscle at the periphery of the lesion. There were large, irregular, and sometimes excessively muscularized venous channels and smaller, clustered channels. Other findings include organizing thrombi, a lymphatic component, and dense fibrous tissue-encircled nerves. CONCLUSIONS: The constellation of clinical, radiologic, and histopathologic features constitutes a distinct entity comprising fibrofatty infiltration of muscle, unusual phlebectasia with pain, and contracture of the affected extremity. The clinical and radiologic findings permit the diagnosis of FAVA with major therapeutic implications. LEVEL OF EVIDENCE: Level III.

The whole is more than the sum of its parts: Aristotle, metaphysical.

This phrase, a favorite of Dr. Joseph E. Murray, can be interpreted in many ways. Mathematically, the whole is equal to the sum of its parts, neither more nor less. Psychological Gestalt theory would maintain that the whole is something else or something different than the sum of its parts. Merely adding up the component parts is meaningless compared with the "part-whole" relationship (SYNERGETICS: Explorations of Thinking. MacMillan Publishing Co, Inc; 1975). Organizational pundits maintain that this principle describes the synergy, which exists between individuals working together in a cooperative effort. Collectively, they are able to achieve an outcome superior to that of 1 or 2 people working alone. This concept is vintage Joseph E. Murray. He was an integral part of the Peter Bent Brigham team, which transformed the dream of organ transplantation into clinical reality over 50 years ago. Although many advances in medicine are made by the serendipity of a prepared mind making a critical observation (Alexander Fleming and penicillin), individual brilliance (Judah Folkman and angiogenesis), or by technology (magnetic resonance imaging), most are achieved by groups of physicians and scientists working together. All have prepared minds. When the Peter Bent Brigham Hospital physicians and researchers at the Harvard Medical School dedicated all of their energy on solving the problems of end-stage renal disease, their effort was concentrated and primarily regional. Today, this cooperation is global, as communication has been facilitated by the Internet, iPhone, iPad, video conferencing, electronic libraries, and the like.

Surgical management of popliteal artery entrapment syndrome.

Introduction: Popliteal artery entrapment syndrome (PAES) is a rare condition in which the popliteal artery becomes compressed by adjacent soft tissue structures causing progressive claudication. Due to its low incidence, this disorder and its surgical management is poorly described in the literature. This study presents our institutional data surrounding PAES management to further optimize care of this syndrome. Methods: This retrospective study gathered demographic, surgical, and outcome data of all patients with PAES who underwent surgical decompression at our institution from 2015 to 2022. Patients were identified using CPT and ICD-9/10 codes. Summary statistics were calculated, with Chi-squared and T-test used for subgroup analysis. Results: 50 surgical patients with PAES were identified. On average, they were young (mean age: 20.7 years), mostly female (78 %), and predominately white (68 %). The vast majority were physically active, with 13 of the 50 patients being runners (26 %). Medically, the cohort was otherwise healthy, with 74 % reporting no comorbidities. Diagnosis was often delayed, with patients on average seeing 4.5 physicians over 2.0 years prior to arriving at our institution for care. In addition to popliteal artery release, the second most performed procedure was fasciotomy (82 %). Postoperatively, there was significant long-term subjective improvement, with 91 % of patients reporting they would repeat the operation and 65 % reporting improved activity. Conclusion: PAES is a rare condition affecting the lower limb that requires a nuanced surgical approach. From diagnosis to outcome, we hope to better inform surgeons of PAES so that these patients may receive the highest quality care.

Partial hand replantation using free microsurgical replantation with staged heterotopic banking of amputated parts: towards improving long term outcomes.

In hand trauma, the uninjured forearm has been touted as the ideal site for ectopic banking in digit/hand amputations. Here, we describe the temporary ectopic implantation and subsequent replantation of a partially amputated hand and highlight the "Three R's" - Recovery, Rehabilitation, and Revision over the first year of recovery.

CLOVES syndrome.

A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes.

Presentation and treatment of macrodactyly in children.

PURPOSE: To characterize the presentation, treatment, and early outcomes of children with isolated congenital macrodactyly of the hand. METHODS: We performed a retrospective chart review of isolated hand macrodactyly cases treated at our institution over a 15-year period. Data on clinical presentation, procedure details, and outcomes were collected. RESULTS: A total of 21 patients, 8 boys and 13 girls, were identified. Patients had a mean of 1.8 affected digits (median, 2; range, 1-3); most (n = 12; 57%) presented with multiple affected digits. The middle finger was most commonly affected (67%). Most patients had progressive overgrowth (n = 13; 67%). Twelve patients (57%) had nerve territory-oriented macrodactyly, whereas 9 (43%) presented with lipomatous type. There were no differences between the types of macrodactyly in sex, affected side, rate of growth, digits affected, or number of procedures. Patients underwent a mean of 3.2 staged corrective operations (median, 2; range, 1-12), including soft tissue debulking (n = 19 patients; 90%), ostectomy for volume reduction or partial amputation (n = 9; 43%), closing wedge osteotomy (n = 11; 52%), epiphysiodesis (n = 7; 33%), digit transfer (n = 3; 14%), toe transfer (n = 1; 5%), and ray amputation (n = 6; 29%). Patients with progressive growth underwent more procedures than patients with static growth. No major complications were reported. CONCLUSIONS: The diagnosis of macrodactyly should be reserved for patients with isolated congenital digit overgrowth affecting all tissue types, but clinical presentation and natural history of macrodactyly can vary greatly among patients. A variety of surgical techniques exist to reconstruct rather than amputate affected digits primarily. Although reconstruction will not result in a normal digit and requires multiple operations, our observations suggest that they are well tolerated and may offer some restored function and aesthetics. More long-term outcomes and insight into the biological basis of this disorder are needed to make better-informed treatment decisions. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.