Resection of 4th-5th Metacarpal Synostosis and Fascial Interposition for Creation of a Functional Grip /Pinch in the Apert Hand.

INTRODUCTION: The 4th-5th metacarpal synostosis, present in over 80% of Apert hands, flattens the metacarpal arch, restricts metacarpal descent, may prevent opposition of border rays, and combined with symphalangism, negates any functional flexion. Ironically, the fifth ray including the digit is the most intact finger within the hand. Restoration of both position and mobility with arthroplasty changes the cardinal plane of flexion and enables both pinch and grip in these compromised hands. This report summarizes the evolution of our technique over five decades. METHODS: In a cohort of 184 Apert patients (368 hands) the presence, anatomy, and level of the metacarpal synostosis with a classification was determined. The present technique consists of incision along ulnar border of hand, wide excision of the skeletal coalition, release of dorsal structures, soft tissue interposition (with cadaveric fascia lata graft) with the fifth metacarpal flexed and supinated. During the past two decades the fascia was also wrapped around the fifth metacarpal in a subperiosteal plane. No fixation is needed. The arthroplasty was commonly combined with a thumb lengthening procedure, such as opening wedge osteotomy plus autogenous bone graft at 2-6 years or distraction lengthening and bone graft at 11-13 years old. Silicone blocks, silicone sheeting, and autogenous tendon were also used as interpositions early in our experience were not included. Data was generated over a 46 period and consisted of clinical and operative records, serial molds, serial X-rays, and OT records. Follow-up ranged from 3 to 44 years. RESULTS: 80% of the hands (N=147 patients) had bilateral 4-5th metacarpal synostoses, the extent of which correlated with the Apert hand classification3. In 72 patients (144 hands) the synostosis was resected and cadaveric fascia interposed. The 7 hands that had silicone blocks, silicone sheets, or tendon interposition were not included in the final results. Synostosis refusion occurred in 38 hands, all of which were performed early in the series and under the age of 6 years. Despite refusion, the position of the 5th digit was improved and the flat transverse arch tin a more curved or cupped posture. Eight of refused synostoses were re-released, usually in conjunction with thumb distraction lengthening. Distance between the opposing border rays was always improved and a new grip and pinch mechanism created. CONCLUSION: Aggressive ostectomy of synostosis and fascial interposition places the ulnar side of the hand in a much more functional position. In conjunction with thumb lengthening, opposition between the thumb and fifth finger becomes a clinical reality in Apert children who are born with diminutive thumbs and minimal interphalangeal joint motion.

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.

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.

Microsurgical Resection of Vascular Malformations of the Upper Extremity.

Vascular malformations that circumferentially surround end or near-end arteries are challenging to manage. Minimally invasive treatment options such as sclerotherapy can directly damage these vessels and cause ischemia. Surgical resection is desired without sacrificing or injuring a patent artery, especially in end organs like the upper limb. Microsurgical resection of these lesions provides a viable option for treatment. Methods: The records of nine patients who presented with vascular malformations that circumferentially surrounded an artery in the upper limb were reviewed. The main indications for surgical intervention were pain or persistent growth. In each case, microsurgical technique using a microscope and microsurgical instruments was used to dissect the lesions free from the affected end arteries. Four digital arteries, three radial arteries, one brachial artery and one palmar arch were involved. Results: There were six venous malformations, two fibro-adipose vascular anomalies, and one lymphatic malformation. There were no cases of distal ischemia, bleeding, or functional compromise. Two patients experienced delayed wound healing. After a minimum follow-up of 1 year, only one patient experienced a small area of recurrence but had no pain. Conclusions: Microsurgical dissection using a microscope and microsurgical instruments is a viable technique for resection of difficult vascular malformations that surround major arterial channels in the upper limb. This technique allows preservation of maximum blood supply while treating problematic lesions.

Distraction Lengthening of the Apert Thumb.

BACKGROUND: The thumbs of patients with Apert syndrome are characteristically short and radially deviated, contributing to functional hand impairment. The authors report a two-staged technique for distraction lengthening of the Apert thumb using a robust cohort of pediatric patients. METHODS: The authors retrospectively reviewed medical records of pediatric patients with Apert syndrome who underwent thumb distraction lengthening between 1999 and 2019. The technique was two-staged: (1) application of uniplanar distractor and phalangeal osteotomy, followed by (2) distractor removal, bone grafting, and fixation. Clinical records, preoperative and postoperative radiographs, and photographs were reviewed. RESULTS: Twenty-two patients (41 thumbs) with Apert syndrome were identified and treated (mean age at initial distraction, 11.5 years). A mean distraction gap of 31.3 mm was achieved over a median time of 40.0 days. The mean healing index was 26.3 days per centimeter. The thumbnail complex was lengthened a median length of 3.0 mm. The median follow-up time was 5.0 years, with complications occurring in 36.4 percent (eight out of 22) of patients. A delayed bone union occurred in one patient, and rotational malunion occurred in one patient. CONCLUSION: Although long-term outcomes data are needed, thumb distraction lengthening following syndactyly release in patients with Apert syndrome is safe and should be considered to augment the overall appearance and functionality of the hand. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Flowthrough Omental Flap for Vascularized Lymph Node Transplant of the Lower Extremity.

SUMMARY: Vascularized lymph node transplantation is a surgical approach for the treatment of chronic lymphedema. However, there is no clinical standard for flap placement nor vascular anastomoses. The authors propose a novel flowthrough configuration for an omental vascularized lymph node transplant in the popliteal space. To prepare the popliteal space for an omental free flap, the medial popliteal fat pad and medial head of the gastrocnemius muscle were debulked. Venous anastomoses were completed with vein couplers, joining the right gastroepiploic vein to the medial sural venae comitantes and the left gastroepiploic vein to the lesser saphenous vein. Arterial anastomoses were hand sewn, joining the right gastroepiploic artery to the proximal medial sural artery and the left gastroepiploic artery to the distal medial sural artery, to create the flowthrough configuration. A retrospective review of patients who underwent this procedure at a single institution was performed. Six patients with chronic lymphedema of the lower extremity underwent vascularized lymph node transplantation from June of 2019 to November of 2020. Five patients underwent at least 3 months of postoperative surveillance, with no postoperative complications reported. In this technique contribution, the authors describe a novel flowthrough configuration for an omental free flap to the popliteal space. The popliteal space offers an aesthetically favorable recipient location when appropriately prepared. The medial sural vessels are ideal recipient vessels for the flowthrough omental flap. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Bockenheimer disease is associated with a TEK variant.

Bockenheimer disease is a venous malformation involving all tissues of an extremity. Patients have significant morbidity, and treatment is palliative. The purpose of this study was to identify the cause of Bockenheimer disease to develop pharmacotherapy for the condition. Paraffin-embedded tissue from nine individuals with Bockenheimer disease obtained during a clinically indicated operation underwent DNA extraction. Droplet digital polymerase chain reaction (ddPCR) was used to screen for variants most commonly associated with sporadic venous malformations (TEK [NM_000459.5:c.2740C > T; p.Leu914Phe], PIK3CA [NM_006218.4:c.1624G > A; p.Glu542Lys and NM_006218.4:c.3140A > G; p.His1047Arg]). ddPCR detected a TEK L914F variant in all nine patients (variant allele fraction 2%-13%). PIK3CA E542K and H1047R variants were not identified in the specimens. Sanger sequencing and restriction enzyme digestion confirmed variants identified by ddPCR. A pathogenic variant in the endothelial cell tyrosine kinase receptor TEK is associated with Bockenheimer disease. Pharmacotherapy targeting the TEK signaling pathway might benefit patients with the condition.

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).

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.

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.

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.

Index Finger Pollicization for Hypoplastic Thumb: Surgical Technique.

SUMMARY: Pollicization can be performed for secondary thumb reconstruction after traumatic injury or for primary thumb construction in cases of congenital thumb hypoplasia. Given the complexity of this operation, intimate familiarity with the involved anatomy and surgical principles is key to successful surgical outcomes. In this Video Plus article, the authors present a step-by-step approach to pollicization in case of Blauth type IIIB thumb hypoplasia.

Diffuse Venous Malformations of the Upper Extremity (Bockenheimer Disease): Diagnosis and Management.

BACKGROUND: Diffuse venous malformations that involve all tissues in the upper limb and ipsilateral chest wall are known as "phlebectasia of Bockenheimer." The authors describe their experience with management of this uncommon vascular anomaly. METHODS: The authors' Vascular Anomalies Center registry comprised 18,766 patients over a 40-year period. This review identified 2036 patients with venous malformations of the extremities (10.8 percent), of whom only 80 (0.43 percent) had Bockenheimer disease. The authors retrospectively analyzed patient characteristics, diagnostics, treatments, and complications. RESULTS: The venous malformation was first noted at birth or within the first few years of life with slow and gradual progression. Pain was related to engorgement of the limb. Thromboses and phleboliths were common, but diffuse intravascular coagulopathy occurred in only 12 patients (15 percent). Skeletal involvement was demonstrated as lytic lesions, cortical scalloping, osteopenia, and pathologic fractures. Management included compression garments (100 percent), sclerotherapy (27.5 percent), and resection of symptomatic areas in 35 percent of patients. Adjunctive pharmacologic medication was given in 7.5 percent. Following resection, 17 patients (60 percent) had one or more complications: hematoma, wound dehiscence, flap loss, contracture, and psychosis. There were no deaths. Symptoms improved in all patients with useful functional outcomes. CONCLUSIONS: The decision to pursue compression, sclerotherapy, pharmacologic treatment, or resection alone or in combination was made by an interdisciplinary team. Although extensive venous malformations cannot be completely ablated, debulking of symptomatic regions, resection of neuromas, and noninvasive treatments improve the quality of life. Despite the bulk and weight of the arm, forearm, and hand, and the ominous appearance on magnetic resonance imaging, these patients remain functional. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, V.

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.

Supercharged Jejunal Interposition: A Reliable Esophageal Replacement in Pediatric Patients.

BACKGROUND: There is no consensus for esophageal reconstruction in the pediatric population. Long defects are commonly repaired with gastric pull-up or colonic interposition; however, jejunal interposition offers several potential advantages in children. One historical concern with jejunal interposition has been the risk of flap infarction following transposition. The use of neck and intrathoracic vessels to "supercharge" the jejunum has been reported in adults. This study reports outcomes of supercharged jejunal interposition in pediatric and young adult patients with long esophageal defects. METHODS: The authors reviewed the medical records of patients who underwent supercharged jejunal interposition for esophageal reconstruction at their institution from 2013 to 2017. The authors collected data pertaining to patient characteristics, operative technique, and postoperative outcomes. RESULTS: Twenty patients, 10 female and 10 male, aged 1.4 to 23.8 years, underwent esophageal reconstruction with supercharged jejunal interposition and were followed for a median of 1.4 years. Seventeen patients had a primary diagnosis of long-gap esophageal atresia, and three required reconstruction following caustic ingestion. Eighty percent of patients had undergone prior attempts at surgical reconstruction. Postoperatively, all conduits demonstrated coordinated peristalsis, and no flap losses were noted. Major complications occurred in seven patients, stricture dilation was performed in four patients, and there was no mortality. CONCLUSIONS: Jejunal interposition with supercharging can be safely performed for management of long esophageal gaps in the pediatric setting; it is useful where the stomach or colon has been used previously or is unavailable. Long-term outcome studies are required to determine whether jejunal interposition provides a more durable and safe conduit than gastric pull-up or colonic interposition over time. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Verrucous venous malformations of the hand.

Verrucous venous malformation is a rare vascular anomaly that presents as a deep purple skin stain and evolves into a larger scaly, keratotic lesion that can bleed and cause pain. Because of its similarity to other vascular lesions, it is often misdiagnosed and treated incorrectly. Ten patients with hand verrucous venous malformations evaluated between 1990 and 2017 were reviewed. Diagnosis was confirmed with histopathology. Six patients were initially misdiagnosed and two patients were incorrectly treated. Eight patients had excision procedures. Immunostaining for glucose transporter 1 protein was positive in all specimens that underwent staining. Most (three of four) of the patients with isolated small lesions remained disease free postoperatively, but those with larger lesions experienced recurrence or continued growth. Early recognition of verrucous venous malformation is important because nonsurgical ablative techniques are ineffective; the optimal treatment is surgery. Level of evidence: IV.

Long-Term Functional Upper-Extremity Outcomes in Adults with Apert Syndrome.

BACKGROUND: The goal of this study was to determine upper-extremity function and health-related quality of life in a cohort of adults with Apert syndrome. METHODS: Twenty-two adults with Apert syndrome completed the Disabilities of the Arm, Shoulder, and Hand survey; the 36-Item Short-Form Health Survey; and a semistructured interview. One surgeon administered the Jebsen Hand Function Test and measured sensation, joint motion, and strength. RESULTS: Median Disabilities of the Arm, Shoulder, and Hand score was 16.9, which indicated slightly greater disability than the population norm of 10.1. Median 36-Item Short-Form Health Survey scores were 54.5 for mental health and 57.0 for physical health-both more favorable than population norms. Total Jebsen Hand Function Test scores for dominant hand were 69.2 seconds for men and 64.7 seconds for women versus 37.8 seconds for population norms of both sexes. More complex syndactyly resulted in worse metacarpophalangeal joint motion but no significant difference in Disabilities of the Arm, Shoulder, and Hand; 36-Item Short-Form Health Survey; or other functional results. There was no difference in self-reported outcomes between patients with four (n = 8) versus five digits (n = 14) in each hand. CONCLUSIONS: In this cohort of adults with Apert syndrome, self-reported assessment of disability was more favorable than measured functional data would suggest. Despite significant functional deficits, the participants in this study had adapted remarkably well.