Late-onset multiple venous malformations confined to the upper limb: link to somatic MAP3K3 mutations

2020 ◽  
Vol 45 (10) ◽  
pp. 1023-1027
Author(s):  
Mohammed M. Al-Qattan ◽  
Mohammed A. Al-Balwi ◽  
Ebtehal M. Al-Zayed ◽  
Mohammed Al-Sohaibani ◽  
Adnan G. Gelidan ◽  
...  
Keyword(s):  
Upper Limb ◽  
Cellular Proliferation ◽  
Mutational Analysis ◽  
Late Onset ◽  
Rare Condition ◽  
Surgical Excision ◽  
Venous Malformations ◽  
Level Of Evidence ◽  
Cavernous Malformations ◽  
Almost All

Venous (cavernous) malformations are commonly seen in the upper limb. Almost all venous malformations are congenital. They may be sporadic, familial, or syndromic. Late-onset, multiple venous malformations confined to the upper limb are rare. Lesions present after puberty. All previously reported cases were located subcutaneously and were small in size. The condition is non-hereditary and non-syndromic. We present a unique series of eight patients with this rare condition. Unique features included the presence of large malformations (up to 20 cm in diameter) and the presence of subfascial lesions causing nerve compression. Surgical excision was curative. Mutational analysis in one patient identified a novel somatic MAP3K3 gene mutation (c.1723T > C, p.Tyr 575 His) in the affected veins. The encoded MAP3K3 protein is known to accelerate the RAS pathway of cellular proliferation. Level of evidence: IV

Upper limb congenital muscular hypertrophy and aberrant muscle syndrome in children

2018 ◽  
Vol 43 (7) ◽  
pp. 751-755
Author(s):  
Emmanuel Dahan ◽  
Camilo Chaves ◽  
Manon Bachy ◽  
Frank Fitoussi
Keyword(s):  
Upper Limb ◽  
Muscle Hypertrophy ◽  
Rare Condition ◽  
Muscular Hypertrophy ◽  
Unknown Aetiology ◽  
Level Of Evidence ◽  
Muscle Balance ◽  
Web Space ◽  
Aberrant Muscle

Congenital muscle hypertrophy of the upper limb is a very rare condition with unknown aetiology. This descriptive observational and retrospective series included eight children followed by a multidisciplinary team from 2005 to 2017. The diagnosis was based on a cluster of clinical and radiological characteristics after elimination of differential diagnoses. Patients were categorized according to: anomalies of the wrist, anomalies of long fingers of intrinsic or extrinsic origin; and anomalies of the thumb with or without first web space contracture. Treatment begins in young children with hand orthoses to limit muscle contraction and joint malposition. The purpose of surgical treatment was to release contractures and to restore muscle balance through, in the main, finger intrinsic releases and first web releases. At the 2-year follow-up, we found that limited surgical procedures improved finger, thumb and wrist positions. We conclude that muscle hypertrophy is the main cause of deformity and that selective releases of contracted musculo-tendinous units and skin lengthening are effective. Level of evidence: IV

scholarly journals Surgical Approaches to Upper Limb Spasticity in Adult Patients: A Literature Review

2021 ◽  
Vol 2 ◽  
Author(s):  
Mahdis Hashemi ◽  
Nadine Sturbois-Nachef ◽  
Marry Ann Keenan ◽  
Paul Winston
Keyword(s):  
Systematic Reviews ◽  
Upper Limb ◽  
Surgical Techniques ◽  
Adult Patients ◽  
Surgical Approaches ◽  
Cochrane Central Register ◽  
Level Of Evidence ◽  
Cochrane Database ◽  
Limb Deformities ◽  
Almost All

Introduction: Spasticity is the main complication of many upper motor neuron disorders. Many studies describe neuro-orthopedic surgeries for the correction of joint and limb deformities due to spasticity, though less in the upper extremity. The bulk of care provided to patients with spasticity is provided by rehabilitation clinicians, however, few of the surgical outcomes have been summarized or appraised in the rehabilitation literature.Objective: To review the literature for neuro-orthopedic surgical techniques in the upper limb and evaluate the level of evidence for their efficacy in adult patients with spasticity.Method: Electronic databases of MEDLINE, EMBASE, CINAHL, Cochrane Central Register of Controlled Trials, and Cochrane Database of Systematic Reviews were searched for English, French as well as Farsi languages human studies from 1980 to July 2, 2020. After removing duplicated articles, 2,855 studies were screened and 80 were found to be included based on the criteria. The studies were then divided into two groups, with 40 in each trial and non-trial. The results of the 40 trial articles were summarized in three groups: shoulder, elbow and forearm, and wrist and finger, and each group was subdivided based on the types of intervention.Results: The level of evidence was evaluated by Sackett's approach. There were no randomized control trial studies found. About, 4 studies for shoulder, 8 studies for elbow and forearm, 26 studies for wrist and finger (including 4 for the thumb in palm deformity), and 2 systematic reviews were found. Around, two out of 40 trial articles were published in the rehabilitation journals, one systematic review in Cochrane, and the remaining 38 were published in the surgical journals.Conclusion: Most surgical procedures are complex, consisting of several techniques based on the problems and goals of the patient. This complexity interferes with the evaluation of every single procedure. Heterogenicity of the participants and the absence of clinical trial studies are other factors of not having a single conclusion. This review reveals that almost all the studies suggested good results after the surgery in carefully selected cases with goals of reducing spasticity and improvement in function, pain, hygiene, and appearance. A more unified approach and criteria are needed to facilitate a collaborative, evidence-based, patient referral, and surgical selection pathway.

Rheology of right ventricular outflow tract obstruction: sub-pulmonary membrane developing months after primary intervention to treat pulmonary atresia with intact interventricular septum

2021 ◽  
pp. 1-4
Author(s):  
Baher M. Hanna ◽  
Wesam E. El-Mozy ◽  
Sonia A. El-Saiedi
Keyword(s):  
Right Ventricular ◽  
Interventricular Septum ◽  
Pulmonary Atresia ◽  
Right Ventricular Outflow Tract ◽  
Rare Condition ◽  
Surgical Excision ◽  
Ventricular Outflow Tract ◽  
Outflow Tract ◽  
Ventricular Outflow Tract Obstruction ◽  
The Right

Abstract Isolated sub-pulmonary membrane is a rare condition, the origin of which has been debatable. Transcatheter treatment of pulmonary valve atresia with intact interventricular septum by radiofrequency perforation and balloon dilatation to restore biventricular circulation is gaining more popularity, with improving results over time. We report in our experience of 79 cases in 10 years the development of a sub-pulmonary membrane in 4 cases: causing significant obstruction requiring surgical excision in one case that revealed a fibrous membrane on pathology; causing mild right ventricular outflow tract obstruction in another and not yet causing obstruction in 2. On cardiac MRI, the right ventricular outflow tract and the right ventricular outflow tract/pulmonary atresia angle showed no morphological abnormalities.

Upper Limb Ischemia: 20 Years Experience from a Single Center

Vascular ◽  
2005 ◽  
Vol 13 (2) ◽  
pp. 84-91 ◽  
Author(s):  
Jean Deguara ◽  
Tahir Ali ◽  
Bijan Modarai ◽  
Kevin G. Burnand
Keyword(s):  
Upper Limb ◽  
Primary Repair ◽  
Limb Ischemia ◽  
Subclavian Steal Syndrome ◽  
Arm Amputation ◽  
Locoregional Anesthesia ◽  
Vein Bypass ◽  
Almost All ◽  
Revascularization Procedures ◽  
Steal Syndrome

The objective of this study was to review a single center's experience of upper limb revascularization over 20 years. All patients undergoing operative or endovascular upper limb revascularization between June 1983 and July 2003 were identified. One hundred eighty-four upper limb revascularization procedures were carried out on 172 patients. Sixty-one patients had a thromboembolic event (35%), 53 patients presented with a traumatic vascular injury (31%), and 29 patients had symptoms of chronic atherosclerotic upper limb ischemia (17%). Fifteen patients had subclavian steal syndrome, eight patients had thoracic outlet compression, and six patients had iatrogenic injuries of the upper limb arteries. Fifty-five thromboembolectomies were performed, 37 under locoregional anesthesia. Ten patients (18.2%) died from cardiopulmonary causes following embolectomy. Fifteen reversed saphenous vein bypass grafts were performed for traumatic damage. Twenty-seven patients had a primary repair, and five required a vein patch. One patient subsequently had an arm amputation, and two patients died. Twelve patients presenting with chronic arm ischemia had a subclavian angioplasty, 12 patients had a proximal bypass, and in 5 patients, stenoses were stented. The mortality in this group was 6.9% (2 of 29). The mortality for upper limb revascularization was 8.7%. Almost all deaths occurred after upper limb embolectomy, and the mortality of this procedure was similar to that of lower limb embolectomy. Deaths were the result of cardiac comorbidity, and this should be actively sought and treated if outcomes are to improve.

scholarly journals Intravascular Glomus Tumor of the Forearm Causing Chronic Pain and Focal Tenderness

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Sang Ki Lee ◽  
Dae Geon Song ◽  
Won Sik Choy
Keyword(s):  
Chronic Pain ◽  
Glomus Tumor ◽  
Rare Condition ◽  
Surgical Excision ◽  
Vascular Tumor ◽  
Glomus Tumors ◽  
Contrast Magnetic Resonance ◽  
History Of ◽  
Subcutaneous Layer ◽  
Magnetic Resonance Imaging Mri

Introduction. A glomus tumor is a benign vascular tumor derived from glomus cells and occurs mainly in the subcutaneous layer of the subungual or digital pulp. Extradigital glomus tumors have been reported within the palm, wrist, forearm, foot, bone, stomach, colon, cervix, and mesentery. Glomus tumors can originate from the intraosseous, intramuscular, periosteal, intravascular, and intraneural layers. However, a glomus tumor originating from the intravascular layer of the forearm is a rare condition.Case Report. A 44-year-old woman had a 7-year history of chronic pain and focal tenderness of the forearm. No hypersensitivity or sensory alterations were observed. Contrast magnetic resonance imaging (MRI) showed a mass measuring 5 × 3 × 2 mm leading to a vein. Surgical excision was performed, and the tumor was completely resected. Finding of gross examination revealed a dark-red, well-defined soft tissue tumor, and histologic examination confirmed that the mass was a glomus tumor. The patient’s symptoms were completely resolved postoperatively.Conclusion. Intravascular glomus tumors rarely occur in the forearm; therefore, a thorough physical exam, comprehensive medical history, in-depth imaging, and early surgical excision upon clinical suspicion may be helpful to prevent a delayed or incorrect diagnosis.

scholarly journals Subungual Glomus Tumor- Clinical Presentation And Treatment

2014 ◽  
Vol 3 (2) ◽  
pp. 45-48 ◽  
Author(s):  
Shyamal Chandra Debnath ◽  
Suman Kumar Roy ◽  
RR Kairy
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Tumor ◽  
Clinical Presentation ◽  
Glomus Tumor ◽  
Rare Condition ◽  
Surgical Excision ◽  
Tissue Mass ◽  
Delay In Diagnosis ◽  
Nail Deformity

Glomus tumor is a rare condition and constitutes only 1 % of all soft tissue tumor of body. Glomus tumor is familiar for its unusual presentation and long standing symptoms due to delay in diagnosis. Authors have presented the clinical behavior and treatment of 7 patients with subungual soft tissue mass. Following surgical excision, all patients cured of symptoms, at the end of follow up, no recurrence occurred; post operative nail deformity was insignificant. DOI: http://dx.doi.org/10.3329/bdjps.v3i2.18250 Bangladesh Journal of Plastic Surgery July 2012, 3(2): 45-48

scholarly journals Preoperative Cyanoacrylate Embolization of Venous Malformations

2018 ◽  
Vol 02 (01) ◽  
pp. 042-050 ◽  
Author(s):  
Eric Monroe ◽  
Rush Chewning ◽  
Kevin Koo ◽  
Giri Shivaram
Keyword(s):  
Blood Loss ◽  
Surgical Margin ◽  
Surgical Excision ◽  
High Volume ◽  
Definitive Treatment ◽  
Incomplete Resection ◽  
Venous Malformations ◽  
Cyanoacrylate Glue ◽  
Multiple Treatment ◽  
Percutaneous Sclerotherapy

AbstractPercutaneous sclerotherapy and standalone surgical excision have historically been the mainstay of treatment for pediatric venous malformations (VMs). However, both approaches have significant limitations. Sclerotherapy often requires multiple treatment sessions, with each round adding additional procedural and anesthetic risks as well as radiation exposure. Standalone surgical excision of VMs can be complicated by high-volume blood loss, and indistinct lesion margins can lead to incomplete resection, resulting in recurrence. An alternative to these approaches is percutaneous cyanoacrylate glue embolization followed by immediate surgical excision, a single-stage procedure that allows for better surgical margin definition and reduced intraoperative blood loss, potentially leading to more definitive treatment. The authors describe the interventional radiology aspects of this combined procedure, emphasizing materials preparation and embolization technique.

scholarly journals Primary umbilical endometriosis – A rare presentation of cutaneous endometriosis

2021 ◽  
Vol 6 (3) ◽  
pp. 226-230
Author(s):  
Girija C ◽  
Muhammed Aslam K K
Keyword(s):  
Rare Condition ◽  
Surgical Excision ◽  
Rare Presentation ◽  
Surgical Biopsy ◽  
Diagnostic Dilemma ◽  
Child Bearing ◽  
Surgical Speciality ◽  
Cutaneous Endometriosis ◽  
Clinical Differential Diagnosis ◽  
Umbilical Endometriosis

Primary umbilical endometriosis is a rare condition with an overall incidence of around 0.5% to 1% among all the endometriosis cases, but at times it poses a diagnostic dilemma. In our institution we encountered a case of primary umbilical endometriosis presented to multiple surgical speciality departments. A prompt clinical examination with surgical biopsy was the key tool which lead to the diagnosis and providing a complete cure for the patient. Pelvic endometriosis affects 5-10% of women in the child bearing age group. The most pronounced symptoms are dyspareunia, pelvic pain, and infertility. Clinical presentations of umbilical endometriosis are as a nodule with or without associated umbilical pain and bleeding. This patient was given primary hormonal therapy and later underwent a biopsy which paved way for an accurate diagnosis of primary umbilical endometriosis. In this case of umbilical swelling, conditions like a benign nevus, lipoma, abscess, cyst, hernia, as well as metastatic deposit from a systemic malignancy were considered in the clinical differential diagnosis. However surgical excision helped us arrive at a definitive diagnosis and cure for the patient.

scholarly journals The effects of surgical treatment and sclerotherapy for intramuscular venous malformations: a comparative clinical study

2021 ◽  
Vol 48 (6) ◽  
pp. 622-629
Author(s):  
Yun Hyun Kim ◽  
Jeong Yeop Ryu ◽  
Joon Seok Lee ◽  
Seok Jong Lee ◽  
Jong Min Lee ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Treatment Group ◽  
Clinical Outcomes ◽  
Vascular Malformations ◽  
Medical Center ◽  
Surgical Excision ◽  
Complication Rates ◽  
Venous Malformations ◽  
Treatment Groups ◽  
Comparative Clinical Study

Background Venous malformations (VMs) are the most common type of vascular malformations. Intramuscular venous malformations (IMVMs) are lesions involving the muscles, excluding intramuscular hemangiomas. The purpose of this study was to compare clinical outcomes between patients with IMVMs who were treated with sclerotherapy and those who were treated with surgical excision.Methods Of 492 patients with VMs treated between July 2011 and August 2020 at a single medical center for vascular anomalies, 63 patients diagnosed with IMVM were retrospectively reviewed. Pain, movement limitations, swelling, and quality of life (QOL) were evaluated subjectively, while radiological outcomes were assessed by qualified radiologists at the center. Complication rates were also evaluated, and radiological and clinical examinations were used to determine which treatment group (sclerotherapy or surgical excision) exhibited greater improvement.Results Although there were no significant differences in pain (P=0.471), swelling (P=0.322), or the occurrence of complications (P=0.206) between the two treatment groups, the surgical treatment group exhibited significantly better outcomes with regard to movement limitations (P=0.010), QOL (P=0.013), and radiological outcomes (P=0.017). Moreover, both duplex ultrasonography and magnetic resonance imaging showed greater improvements in clinical outcomes in the surgical excision group than in the sclerotherapy group.Conclusions Although several studies have examined IMVM treatment methods, no clear guidelines for treatment selection have been developed. Based on the results of this study, surgical excision is strongly encouraged for the treatment of IMVMs.

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