Severe Contracture Research Articles

Walking Ability After Microsurgical Reconstruction of Pediatric Popliteal Pterygium Syndrome—A Case Report

Background: Popliteal pterygium syndrome (PPS) is a rare congenital disorder characterized by orofacial, cutaneous, musculoskeletal, and genital anomalies. Surgical interventions are necessary to address the severe knee flexion contracture and equinovarus deformity, but there are no established treatment guidelines. Methods: We present the case of a one-year-old patient with PPS and discuss the challenges in managing the knee deformity. The surgical option chosen for the unilateral knee contracture of 80° consisted of skin management by a large Z-plasty, lengthening of popliteal vessels by grafts, lengthening of the tibial and peroneal nerves by autografts and allografts, capsular releases, and tendon releases to improve mobility and preserve foot sensibility. Results: With a three-year follow-up, the surgical interventions resulted in proper ability to walk freely. Wearing of a foot orthesis was necessary to balance the leg length differences and support the midfoot deformity. Furthermore, sensation of the foot could be restored in terms of touch sensibility and perfusion was always stable during growth. Discussion: The treatment of PPS requires a multidisciplinary approach, considering the rarity and complexity of the syndrome. Surgical interventions aim to release contractures, correct deformities, and preserve foot sensibility. Each treatment option has its advantages and disadvantages, highlighting the need for individualized care.

Neoadjuvant Immunotherapy and De-Escalation of Surgery in Locally Advanced Breast Implant-Associated Anaplastic Large Cell Lymphoma (BIA-ALCL)

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare form of non-Hodgkin T cell lymphoma diagnosed in patients with a history of breast implants. Most patients develop a periprosthetic effusion at early stages of disease while less common presentations include a palpable mass, severe capsular contracture, lymphadenopathy, or cutaneous erythema. Due to the complex nature of this disease, a multidisciplinary approach is necessary for optimal management, particularly in locally advanced disease or inoperable patients. We present the successful use of neoadjuvant therapeutic protocols in two cases of locally advanced BIA-ALCL. The first case, a 52-year-old patient with a left breast mass-like stage III disease who underwent combined targeted immunotherapy and chemotherapy (BV-CHP). Following a complete radiological and metabolic response, the patient underwent bilateral implant removal, right total intact capsulectomy, left en bloc capsulectomy and skin resection from the left inframammary fold in continuity with the capsule. The second case, a 65-year-old patient with a right breast swelling and mass-like stage IIA disease who received targeted immunotherapy, Brentuximab vedotin (BV). Following a complete metabolic response, she underwent bilateral implant removal and en bloc capsulectomy. A literature review and the reported cases suggest the effectiveness of targeted immunotherapy as monotherapy or in combination with chemotherapy in locally advanced BIA-ALCL in disease downstaging, surgical de-escalation, reduction of significant post-operative complications and an acceptable tolerance profile. Although surgery is an essential part of treatment, timing and type of intervention should be carefully planned, especially when primary, radical resection is uncertain.

Individual Joint Distractions Using Ilizarov Mini-Fixator Device for Chronic Simultaneous Dislocation of the Distal and Proximal Interphalangeal Joints in the Same Finger.

Simultaneous dislocation of the distal and proximal interphalangeal joints is an uncommon injury. Treating chronic cases proves challenging due to severe contractures affecting both joints and surrounding soft tissues. Here, we report an unusual chronic contracture case in a 46-year-old man who suffered a dorsal dislocation of the distal and proximal interphalangeal joints of the little finger. The patient underwent primary joint distraction followed by open reduction, leading to stable radiographic restoration and a functional range of motion in the affected finger 6 months postoperatively. Joint distraction was a reliable approach for the treatment of chronic joint dislocation with severe soft tissue contracture, especially for multiple joint contractures. In addition, the Ilizarov mini-fixator device was effective in enabling individualized traction on both the distal and proximal interphalangeal joints.

Airway management for patients with tracheal stenosis and severe scar contracture of the face and neck via bronchoscopy: a case report

Both anaesthesiologists and surgeons experience challenges in managing airway stenosis and scar contracture in the face and neck. Herein, we report the case of a 38-year-old woman (BMI 23.1 kg/m2, third-degree burns covering 40% of her body, an American Society of Anaesthesiologists physical status III) with an unusual case of airway constriction. This patient had a predictable difficult airway (mouth opening of 2 cm, bilateral nostril scar hyperplasia, Mallampatti score III, scarring of the head and neck, and severe tracheal stenosis). Tracheal stenosis measuring 5.5 mm in width as observed 8 cm below the glottis, and the bronchoscope could not pass through it. After two failed attempts at laryngeal mask insertion, we decided to instead insert a custom-made tracheal tube under the guidance of a fiberoptic bronchoscope. The operation was successful, and the patient was transferred to the intensive care unit (ICU).

Clinical Outcomes of Collagenase Injections in Management of Dupuytren Contracture of the Proximal Interphalangeal Joint

Dupuytren contracture is characterized by the formation of cords and nodules in the palm. Surgical release has historically been the definitive treatment. Collagenase clostridium histolyticum (CCH) has been used successfully as an alternative to surgery. The treatment of proximal interphalangeal (PIP) contractures is the most challenging. The purpose of this study was to evaluate CCH treatment for Dupuytren contracture of the PIP joint. A retrospective chart review was performed for CCH treatment of Dupuytren contracture at a single institution from January 2010 to April 2023. Data collected included pretreatment/posttreatment total flexion contracture and adverse events. Contractures were analyzed both by severity (high >40° and low <40°) and type (isolated PIP; combined metacarpophalangeal and PIP). A total of 304 patients with 470 PIP joints treated were included. Digits with isolated and combined contractures each had an average pre-CCH treatment contracture of 51 (±23) degrees. Postmanipulations the contractures were 6 (±13) and 7 (±16) degrees, respectively. Clinical success (<5° residual contracture) and improvement (>50% correction of contracture) were associated with low severity contractures at postmanipulation. There were 256 adverse events recorded (54.5%), including 187 skin tears (39.8%), 68 cases of lymphadenopathy (14.5%), and one injection site infection (0.2%). High severity and combined contractures were independently associated with an increased incidence of skin tears upon manipulation. Collagenase clostridium histolyticum treatment is effective for isolated or combined PIP joint contractures. Adverse events were associated with more severe contractures. Given the degree of improvement based on contracture severity, earlier intervention may provide better correction of contracture. Therapeutic III.

Silicone Lymphadenopathy Following Augmentation Mammoplasty With Silicone Implants.

Silicone implants are by far the most widely used implant globally for breast augmentation. Despite technological advancements, complications persist, with silicone lymphadenopathy (siliconoma) being a noteworthy concern. This phenomenon has been inadequately addressed in the existing literature. The aim of this study was to characterize axillary siliconomas and identify potential risk factors to help reduce their occurrence. The authors conducted a retrospective observational cross-sectional study spanning between 2011 and 2021 at the Shamir Assaf Harofeh Medical Center, Israel. Preoperative ultrasound examination was conducted, categorizing patients into those with siliconomas and those without. A total of 614 women (1209 breasts) met the inclusion criteria. The incidence of siliconomas was 13.6% (165 breasts). In univariate analysis, older age (47 years vs 43 years, P < .001), older implant age (12.2 years vs 11 years, P = .026), ruptured implants (59.4% vs 17.7%, P < .001), subpectoral placement (P = .019), severe capsular contracture, and the use of Mentor implants (Irvine, CA; P = .007) and Poly Implant Prothèse implants (PIP; La Seyne-sur-Mer, France; P = .001) correlated significantly with the presence of siliconomas. In a multivariate analysis, implant rupture (odds ratio [OR] = 6.342), and implant manufacturer-Mentor (OR = 3.047) and PIP (OR = 3.475)-were identified as independent risk factors associated with a higher incidence of siliconomas. Severe capsular contracture was also associated with a higher incidence of siliconomas (OR = 1.65). Surgeons should inform candidates about the potential risk of silicone migration. Patients with ruptured implants, significant capsular contracture, and Mentor and PIP implants face an increased risk for developing siliconomas. Closer monitoring for the detection of siliconomas in the axilla for these patients is advisable, and potential prophylactic replacement or removal of implants may be warranted to mitigate siliconoma risk.

The Putti Sign Following Residual Brachial Plexus Birth Injury: Prevalence and Significance.

The Putti sign, a common deformity and complaint in children with brachial plexus birth injury (BPBI), stems from a glenohumeral (GH) abduction contracture. Despite recent clinical studies offering insights into this deformity, none have explored the prevalence of the Putti sign or its correlation with GH abduction contractures. We conducted a prospective analysis of 238 patients (median age 7.5 years; range, 4.1-16.2) with residual BPBI seen in the clinic from December 2019 to December 2022. Epidemiological data, including demographics, palsy levels, modified Mallet scale sum, surgical history, and presence/absence of the Putti sign and glenohumeral adduction angle (GHADD), were collected. Patients were categorized into 4 age groups: 0 to 5 years (n=67), 6 to 10 years (n=102), 11 to 15 years (n=53), and 16 years and older (n=16). Results were expressed as medians (minimum-maximum), with frequency comparisons done using Pearson's chi-square analysis. Mann-Whitney U and Kruskal-Wallis tests were used for quantitative variable comparison, and receiver operating characteristic (ROC) analysis determined the threshold GHADD angle for Putti sign appearance. Main findings included: (1) 27% of patients with residual BPBI exhibited the Putti sign, (2) confirmed correlation between the Putti sign and GH adduction contractures, (3) Putti sign manifestation with GHADD angle measuring less than -5° because to abduction contracture, and (4) association between this deformity and reduced activities requiring external rotation. No significant differences in Putti sign prevalence were found across age groups. Our study underscores the common occurrence of the Putti sign in children with residual BPBI. It is important to note that we highlight its functional significance beyond cosmetic concerns. Contrary to prior literature, our analysis reveals functional impairment associated with the Putti sign. Although no age-based differences in Putti sign prevalence were observed, patients aged 0 to 5 years and 11 to 15 years showed more severe glenohumeral abduction contractures, possibly due to growth spurts. Diagnosis IV.

Kinematic Effects of Derotational Osteotomy of the Humerus in Patients with Internal Shoulder Contracture Secondary to Erb's Palsy-A Retrospective Cohort Study.

Background: Internal rotation contractures of the shoulder are common sequelae of conservatively treated obstetric brachial plexus palsy (OBPP) with incomplete spontaneous neurological recovery. Humerus derotation osteotomy has been suggested as a possible treatment option to improve arm positioning. However, consensus as to whether humerus derotation osteotomy can successfully restore limb function is missing. Methods: In the present controlled cohort study, we aimed at analyzing global upper extremity kinematics with a 3D-video analysis system in children with shoulder internal rotation contractures secondary to OBPP before, and one year after, humerus derotation osteotomy. Patients under 18 years of age that presented to our center with conservatively treated internal rotation contractures of the shoulder and subsequently underwent humerus derotation osteotomy were included. The unimpaired arm served as a respective control. Results: Pre-operatively, all patients showed severe internal rotation contractures of the shoulder of almost 60° at rest. At the follow-up, the position of the shoulder at rest was greatly shifted to 9° of internal rotation. The patients showed statistically significant improvement in maximum external rotation and abduction of the shoulder, as well as in maximum flexion of the elbow, and the range of motion of pro/supination. The maximum internal rotation of the shoulder, however, was diminished after the osteotomy. Conclusions: Our data indicated that derotational osteotomy is a promising procedure which can be used to correct for internal rotation contractures secondary to OBPP. Moreover, 3D-video analysis proved to be a useful tool that supplies the surgeon with both precise information about the degree of distortion pre-operatively, thus helping to decide on the amount of correction, and secondly, a measurement of the post-operative gain in upper extremity function.

Abstract PO3-23-05: Capsular contracture after post-mastectomy radiotherapy in the patients undergoing implant-based breast reconstruction: impact of implant positioning and two-stage surgery

Abstract Background Capsular contracture is a significant concern in patients undergoing post-mastectomy radiotherapy (PMRT) following implant-based breast reconstruction. It negatively impacts cosmetic outcomes and can have a profound effect on the individual's quality of life. Our study aimed to explore whether the degree of capsular contracture varies based on the placement of the inserted implant and the type of operation (one- or two-staged). Patients and Methods This retrospective study was conducted at a single center, Ganganm Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea. Our study included patients who underwent PMRT following total mastectomy and implant-based breast reconstruction surgery between January 2017 and September 2022. To assess the degree of capsular contracture, we evaluated the presence of capsular contracture, particularly severe capsular contracture classified as Baker grade 3 or higher, as well as implant migration. The implants were placed either in the pre-or sub-pectoral position, and the surgical approach employed was either direct-to-implant (DTI) or two-staged operation. Results A total of 195 patients were included in the study, with 83 (42.6%) patients in the pre-pectoral group and 112 (57.4%) patients in the sub-pectoral group. In addition, 116 underwent a two-stage operation, while 79 underwent DTI surgery. There was a significant difference in the occurrence of capsular contracture based on the implant placement, with 16 patients (19.3%) in the pre-pectoral group and 46 patients (41.1%) in the sub-pectoral group experiencing this complication (OR 4.142 [1.973-8.698]). Furthermore, the severity of capsular contracture differed significantly between the two groups, with 5 patients (6.0%) in the pre-pectoral group and 16 patients (14.3%) in the sub-pectoral group affected (OR 3.434 [1.153-10.227]). The incidence of capsular contracture was lower in the two-stage operation group compared to the DTI group (28 [23.9%] vs 34 [38.6%]; OR 3.064 [1.528-6.141]), and the severity of capsular contracture was also reduced (9 [7.7%] vs 12 [14.5%]; OR 2.854 [1.092-7.455]). There were no significant differences in other complications such as seroma and infection. In addition, sub-pectoral placement was identified as a significant risk factor for implant upward migration (OR 2.531 [95% CI, 1.263-5.071]). Conclusions Our findings suggest that pre-pectoral reconstruction and the two-stage operation are beneficial for patients who may undergo PMRT based on their initial nodal stage. These approaches can help reduce the incidence of capsular contracture and abnormal implant migration following radiation, leading to improved aesthetic outcomes and greater patient satisfaction. Citation Format: Sohyun Moon, Kyunghyun Min, Jung Hwan Eom, Yoonwon Kook, Seung Ho Baek, Junghyun Kim, Min Ji Kim, Seung Eun Lee, In Sik Yun, Tai Suk Roh, Soong June Bae, Joon Jeong, Young Seok Kim, Sung Gwe Ahn. Capsular contracture after post-mastectomy radiotherapy in the patients undergoing implant-based breast reconstruction: impact of implant positioning and two-stage surgery [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO3-23-05.

Combining the Tunnel Orbicularis Oculi Muscle Flap Technique With Skin Grafting for Enhanced Adhesion in Burn-Induced Ectropion Repair.

Scar contracture of the eyelid following facial burns often has adverse consequences. Total cicatricial contracture often makes adjustment flap translation challenging to implement. Previously used upper and lower eyelid adhesion methods are ineffective for patients with severe cicatricial contracture, and ectropion can easily recur. This study aimed to retrospectively examine upper and lower eyelid adhesions using an orbicularis oculi muscle flap and verify its stability. In patients with ectropion caused by severe scar contracture following head and face burns, we employed a tunnel orbicularis oculi muscle flap technique, which involved creating a tunnel between the skin and the tarsal plate of the eyelid, mobilizing the orbicularis oculi muscle, and rotating it into this tunnel to provide stable adhesion of the upper and lower eyelids. Full-thickness skin grafting was then performed. The eyelids were examined postoperatively to determine whether reoperation was necessary and to monitor for any potential complications. This study included 26 patients and 46 eyes. No accidental disconnection occurred after eyelid adhesion, which lasted for an average of 21.87 ± 10.08 months before the eyelid adhesion was cut open. No complications or adverse reactions occurred, and the adhesions did not break unexpectedly. Repairing eyelid ectropion with the tunnel orbicularis oculi muscle flap is a simple procedure that immediately creates tension against upper and lower eyelid contractures, providing long-term stable adhesion. This method avoids structural disorders, such as eyelid margin scarring, minimally influences surrounding tissues, and has few postoperative complications. It holds great value for repairing eyelid tissue defects and warrants further study.

Impact of post-operative infection on revision procedures in breast reconstruction: A marketscan database analysis

BackgroundEsthetic complications, such as capsular contracture and soft-tissue contour defects, hinder the desired outcomes of breast reconstruction. As subclinical infection is a prevailing theory behind capsular contracture, we investigated the effects of post-operative infections on these issues and revision procedures. MethodsWe conducted a retrospective database study (2007–2021) on breast reconstruction patients from the MarketScan® Databases. Esthetic complications were defined by their associated revision procedures and queried via CPT codes. Severe capsular contracture (Grade 3–4) was defined as requiring capsulotomy or capsulectomy with implant removal or replacement. Moderate and severe soft-tissue defects were determined by the need for fat grafting or breast revision, respectively. Generalized linear models were used, adjusting for comorbidities and surgical factors (p < 0.05). ResultsWe analyzed the data on 62,510 eligible patients. Post-operative infections increased the odds of capsulotomy (OR 1.59, p < 0.001) and capsulectomy (OR 2.30, p < 0.001). They also raised the odds of breast revision for severe soft-tissue defects (OR 1.21, p < 0.001). There was no significant association between infections and fat grafting for moderate defects. Patients who had post-operative infections were also more likely to experience another infection after fat grafting (OR 3.39, p = 0.0018). In two-stage reconstruction, infection after tissue expander placement was associated with greater odds of infection after implant placement. ConclusionPost-operative infections increase the likelihood of developing severe soft-tissue defects and capsular contracture requiring surgical revision. Our data reinforce the role of infections in the pathophysiology of capsular contracture. Additionally, infections elevate the risk of subsequent infections after fat grafting for moderate defects, further increasing patient morbidity.

Comparative analysis of surgical treatment modalities for a popliteal pterygium: a meta-analysis.

Popliteal pterygium syndrome is a rare congenital disorder characterized by orofacial, cutaneous, musculoskeletal, and genital anomalies. The popliteal pterygium (PP) affects ambulation due to severe knee flexion contracture and equinovarus deformities. Surgical treatment aims to correct these deformities while preserving limb sensibility. However, due to its rarity, surgical guidelines are lacking. A meta-analysis according to PRISMA guidelines was conducted to summarize and compare surgical methods for PP. 183 paper were identified in PubMed and data from 32 articles were analyzed, including patient demographics, treatment modalities (Ilizarov fixator, femoral osteotomy, skin/soft tissue procedures, hamstring release, nerve surgery, and amputation), pre- and post-operative abilities to walk, knee joint parameters, complications, and recurrent contractions. Among 58 patients (87 limbs), Ilizarov fixator demonstrated improved knee and ankle mobility postoperatively, but showed a relatively high surgical session count and complication rates. Femoral osteotomy achieved successful knee posture correction with fewer sessions and no complications. Isolated skin/soft tissue procedures improved flexion contracture and mobility, though they required several procedures. Hamstring release achieved notable contracture reduction but also necessitated multiple interventions. Nerve surgery and amputation had limited data, warranting further investigation. The management of PP demands a comprehensive approach, considering individual patient characteristics and treatment outcomes. While different surgical modalities offer distinct benefits, a classification or guideline to treat this deformity is still lacking. Further research is essential to validate findings, refine treatment approaches, and enhance the quality of life for individuals with PP.

Immediate Lymphatic Reconstruction with Vascularized Omentum Lymph Node Transplant: Reducing the Risk of Both Painful Contracture and Lymphedema.

Patients undergoing extensive lymph node dissection and radiation are at high risk for not only lymphedema but also painful contracture. In a standard lymphadenectomy, immediate lymphatic reconstruction using a lymphovenous bypass is effective in reconstructing the lymphatic defect. However, a more aggressive nodal clearance leaves the patient with a large cavity and skeletonized neurovascular structures, often resulting in severe contracture, pain, cosmetic deformity, and venous stricture. Adjuvant radiotherapy to the nodal bed can lead to severe and permanent disability despite physical therapy. Typically, these patients are referred to us after the fact, where surgery will rarely restore the patient to normal function. In an effort to avoid lymphedema and contracture, we have been reconstructing both the lymphatic and soft tissue defect during lymphadenectomy, using vascularized omentum lymphatic transplant (VOLT). A total of 13 patients underwent immediate reconstruction with VOLT at the time of axillary (n = 8; 61.5%) or groin (n = 5; 38.5%) dissection. No postoperative complications were observed. The mean follow-up time was 15.1 ± 12.5 months. Only one lower extremity patient developed mild lymphedema (11% volume differential), with excellent scores in validated patient-reported outcomes. All patients maintained full range of motion with no pain. None of the 13 patients required a compression garment. Immediate lymphatic reconstruction with VOLT is a promising procedure for minimizing the risk of lymphedema and contracture in the highest risk patients undergoing particularly extensive lymph node dissection and radiotherapy.

CERVICAL SCAR CONTRACTURES: EXPERIENCE OF THE PLASTIC SURGERY DEPARTMENT IN MARRAKECH

Deep cervical burns can lead to disabling sequelae, especially in cases of delayed, incorrect, or inadequate initial burn management. The aim of this study is to report the various epidemiological aspects of cervical contractures, analyze therapeutic modalities, and emphasize the importance of prevention. Our work is a retrospective study spanning a period of 10 years from July 2013 to July 2023, which includes 107 cases of cervical contractures followed at the Plastic and Reconstructive Surgery Department and Burn Unit of the Mohammed VI University Hospital Center in Marrakech. The average age of our patients is 20 years, ranging from 1 to 55 years. 68% of the studied population is female, with a sex ratio of 2.14. They mostly come from a low socioeconomic background. The most frequently found circumstances of the initial burn were domestic accidents, accounting for 80% of all accidents. The etiology of the initial burn is thermal in all patients in our series, 100%. In our study, the majority of cases were initially managed in non-specialized health centers or even at home through traditional practices. Initial treatment involved conventional treatment in 45.5% of cases, early excision with grafting in 22.7% of cases, and physiotherapy (compression therapy, massage) in 22.7% of cases. The topographic distribution of sequelae showed a predominance of anterior neck involvement in 96% of cases. Facial burn sequelae are most frequently associated (70%) with cervical contractures, followed by trunk sequelae (50%). The majority of patients (80.5%) present with deformation of the cervico-mental angle, as well as limitation of cervical extension. Severe cervical contractures (according to Achauers classification) are the most frequent, representing 44.6% of cases. Surgical treatment of these sequelae involves various methods, including skin grafts used in 50.6% of cases, local flaps used in 38.4% of cases, flaps used in 5.5% of cases, and skin expansion used in 5.5% of cases. Functional and aesthetic improvement is achieved in 85.9% of cases, while surgical revision was necessary in 5 patients. Cervical burn sequelae pose a major therapeutic challenge, despite the diversity of surgical procedures, hence the importance of prevention.

A Grading System-Guided Approach to the Severely Contracted Nose.

Capsular contracture is a rare but serious complication of silicone implant-based augmentation rhinoplasty. When severe, the contracture can affect all layers of the nose, causing significant scarring and disfigurement. There is currently no standardized method of evaluating contracted noses and a paucity of literature on the treatment of severe contracture. Therefore, this study aimed to establish a comprehensive grading system and treatment approach for patients with nasal contracture secondary to silicone implant-based rhinoplasty. We conducted a retrospective analysis on patients who presented with nasal contracture from 2012 to 2021. All preoperative photographs were evaluated by two plastic surgeons, twice at 1-month intervals. The proposed grading system comprised: normal (grade I), mild contracture with detectable implant (grade II), moderate contracture with skin thinning (grade III), severe contracture with short nose deformity (grade IV), and destructive contracture with scarring of the dorsal skin (grade Va), or columella deficiency (grade Vb). Inter- and intraobserver agreement was assessed using the kappa value to determine the reliability of the system. Based on 87 patients, interobserver agreement was substantial for both evaluation time points (k = 0.701 and 0.723). Intraobserver agreement was excellent for evaluator 1 (k = 0.822) and substantial for evaluator 2 (k = 0.699). Using this grading system, we propose a graduated treatment algorithm for contracted noses. Most notable is our use of radial forearm free or forehead flaps to reconstruct the columella in grade Vb patients. By combining reconstructive and aesthetic principles, this treatment approach provides an effective and elegant solution for the management of the severely contracted nose. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3

BackgroundBiallelic pathogenic variants in PIP5K1C (MIM #606,102) lead to lethal congenital contractural syndrome 3 (LCCS3, MIM #611,369), a rare autosomal recessive genetic disorder characterized by small gestational age, severe multiple joint contractures and muscle atrophy, early death due to respiratory failure. Currently, 5 individuals with LCCS3 were reported and 5 pathogenic variants in PIP5K1C were identified. Here, we reported the two fetuses in a Chinese pedigree who displayed multiple joint contractures and other congenital anomalies.MethodsTrio-based whole-exome sequencing (WES) was performed for the parents and the recent fetus to detect the genetic cause for fetus phenotype.ResultsA novel variant, NM_012398.3: c.949_952dup, p.S318Ifs*28 and a previously reported variant, c.688_689del, p.G230Qfs*114 (ClinVar database) in PIP5K1C, were detected in the individuals, and these variants were inherited from the mother and father, respectively. We described the features of multiple joint contractures in our fetuses, including bilateral talipes equinovarus, stiffness in the limbs, extended knees, persistently closed hands and overlapping fingers, which have not been delineated detailedly in previously reported LCCS3 individuals. Furthermore, novel phenotype, bilateral dilated lateral ventricles, was revealed in one fetus.ConclusionsThese findings expanded the genetic variant spectrum of PIP5K1C and enriched the clinical features of LCCS3, which will help with the prenatal diagnosis and genetic counseling for this family.

Pediatric Spastic Wrist Contractures Can Be Well Managed With Wrist Arthrodesis.

Severe spastic wrist contractures secondary to cerebral palsy (CP) or alike can have significant implications for patient hand function, hygiene, skin breakdown, and cosmesis. When these contractures become rigid, soft tissue procedures alone are unable to obtain or maintain the desired correction. In these patients' wrist arthrodesis is an option-enabling the hand to be stabilized in a more functional position for hygiene, dressing, and general cosmesis, though are patients satisfied? All children who had undergone a wrist arthrodesis for the management of a severe wrist contracture at Shriners Hospital, Portland between January 2016 and January 2021 were identified (n=23). A chart review was undertaken to obtain data-demographic, operative, clinical, and radiographic. All patients were then contacted to participate in 2 patient-reported outcome questionnaires (74% response agreement), a numerical rating scale (NRS), based on the visual analog scale (VAS) and the disability analog scale (DAS). Results were assessed with the aid of descriptive statistics, means and percentages with the primary focus of determining overall patient satisfaction with the procedure. Twenty-three patients were included in the review, and 74% took part in the prospective survey. Included were 10 patients with hemiplegia, 4 with triplegia, 7 with quadriplegia, 1 with a diagnosis of Rhett syndrome, and 1 with a history of traumatic brain injury. All patients achieved radiologic union by a mean of 8 weeks, and 87% obtained a neutral postoperative wrist alignment. The NRS showed 88% of patients were highly satisfied with their results; specifically, 82% had an improved appearance, 53% improved function, 71% improved daily cares, and 65% improved hygiene. The postoperative DAS score averaged 4.7 of 12 indicating mild disability. When looking at how a patient's diagnostic subtype affected outcome results, patients with triplegia reported less improvement and greater disability on the NRS and DAS, averaging 9.5 (severe disability on the DAS). The GMFCS classification had less correlation with outcomes. Wrist arthrodesis is a good option for the management of pediatric spastic wrist contractures, with limited complications and an overall high patient/carer satisfaction rate. Level IV-case series.

Multiple Serial Casting for Recurrent Clubfoot in Arthrogryposis Corrects Deformity With Diminishing Returns.

Arthrogryposis multiplex congenita (AMC) consists of more than 400 conditions involving severe joint contractures of at least two or more body regions. Management of clubfoot in patients with AMC is notoriously challenging, with a higher likelihood of recurrence than idiopathic clubfoot, which can be treated using the Ponseti technique to avoid or delay more invasive procedures. The purpose of this study is to determine the utility of multiple serial casting as a treatment of clubfoot in AMC using Pirani scores as an objective measure of deformity. Pirani scores were retrospectively collected from 17 AMC patients with a total of 30 clubfeet and two years follow-up from initiation of treatment. Patients with a minimum of three casting series were included. Pre-treatment and post-treatment deformity scores were examined across casting series using analysis of variance (ANOVA) statistical analysis. The first series pre-treatment Pirani score improved from 4.80±1.54 to 1.68±1.48 (p<0.001). The second series improved from 4.23±1.03 to 2.72±0.916 (p<0.001). The third series had the smallest improvement from 3.87±1.07 to 2.82±1.02 (p<0.001). Change in Pirani scores showed a significant decrease from the first series to the second (p=0.001) and third (p<0.001). In addition, the number of casting days was found to significantly affect the change in scores during the third series (p=0.038). The Ponseti technique can improve clubfoot in AMC as measured by the Pirani score. Data shows that early intervention yields better results, with a diminished yet effective ability to elicit change over time.

MRI of the Spine in Patients who Toe Walk: Is There a Role?

Little is known about the prevalence of intraspinal pathology in children who toe walk, but magnetic resonance imaging (MRI) may be part of the diagnostic workup. The purpose of this study was to examine the role of MRI for children who toe walk with a focus on the rate of positive findings and associated neurosurgical interventions performed for children with said MRI findings. A single-center tertiary hospital database was queried to identify a cohort of 118 subjects with a diagnosis of toe walking who underwent spinal MRI during a 5-year period. Patient and MRI characteristics were summarized and compared between subjects with a major abnormality, minor abnormality, or no abnormality on MRI using multivariable logistic regression. Major MRI abnormalities included those with a clear spinal etiology, such as fatty filum, tethered cord, syrinx, and Chiari malformation, while minor abnormalities had unclear associations with toe walking. The most common primary indications for MRI were failure to improve with conservative treatment, severe contracture, and abnormal reflexes. The prevalence of major MRI abnormalities was 25% (30/118), minor MRI abnormalities was 19% (22/118), and normal MRI was 56% (66/118). Patients with delayed onset of toe walking were significantly more likely to have a major abnormality on MRI ( P =0.009). The presence of abnormal reflexes, severe contracture, back pain, bladder incontinence, and failure to improve with conservative treatment were not significantly associated with an increased likelihood of major abnormality on MRI. Twenty-nine (25%) subjects underwent tendon lengthening, and 5 (4%) underwent neurosurgical intervention, the most frequent of which was detethering and sectioning of fatty filum. Spinal MRI in patients who toe walk has a high rate of major positive findings, some of which require neurosurgical intervention. The most significant predictor of intraspinal pathology was the late onset of toe walking after the child had initiated walking. MRI of the spine should be considered by pediatric orthopedic surgeons in patients with toe walking who present late with an abnormal clinical course. Level III Retrospective Comparative Study.

Hyaline Fibromatosis Syndrome Diagnosed by Whole Genome Sequencing

Hyaline fibromatosis syndrome is an extremely rare autosomal recessive condition caused by biallelic pathogenic variants in the ANTXR2 gene that leads to abnormal growth of hyalinized fibrous tissue. Severity ranges from life-threatening intractable diarrhea, recurrent infection, and acute pain to milder disease resulting in skin lesions and less severe contractures. Here, we report the case of a 3-month-old female who presented with joint contractures and severe pain followed by failure to thrive. Diagnosis via ultra-rapid whole genome sequencing allowed our team to provide appropriate care and anticipatory guidance for this patient and family.