scholarly journals Lymphatic Malformation Responsive to Sirolimus in Keratinocytic Epidermal Nevus Syndrome with KRAS Mutation: A Case and Brief Literature Discussion

2021 ◽  
pp. 195-201
Author(s):  
Emily Sideris ◽  
Er Tsing Vivian Tng ◽  
Paul Chee
Keyword(s):  
Current Literature ◽  
Kras Mutation ◽  
Rare Case ◽  
Mtor Inhibitor ◽  
Vascular Malformations ◽  
Lymphatic Malformation ◽  
Literature Discussion ◽  
Lymphatic Malformations ◽  
Epidermal Nevus ◽  
Overgrowth Syndromes

We present a rare case of KRAS keratinocytic epidermal nevus syndrome with lymphatic malformation, responsive to treatment with sirolimus, an mTOR inhibitor. A brief review of the current literature regarding sirolimus use in vascular malformations, lymphatic malformations, regional overgrowth syndromes, and RASopathies is discussed.

Giant Lymphatic Malformations in Lower Extremity in an Adult: A Case Report

2018 ◽  
Vol 17 (4) ◽  
pp. 285-289
Author(s):  
Bommie Florence Seo ◽  
Kyo Joon Kang ◽  
Hyuk Joon Choi ◽  
Kyung Jin Seo ◽  
Sung-No Jung ◽  
...  
Keyword(s):  
Lower Extremity ◽  
Rare Case ◽  
Unusual Case ◽  
Vascular Malformations ◽  
Minor Trauma ◽  
Lymphatic Malformations ◽  
Computed Tomography Images ◽  
Neck Area ◽  
The Masses

Lymphatic malformations are benign vascular malformations rarely seen in adults. There have been only around 100 cases reported in the literature, most of them located in the head and neck area. The etiology is poorly understood but trauma, infection, or tumors have been suggested as possible causes. We present an unusual case of lymphatic malformations in the lower extremity of a 56-year-old male patient after minor trauma. The masses were asymptomatic but progressively enlarged for a period of 2 months, developing into a mass with a 21-cm-long axis in computed tomography images. Total surgical resection was performed and there were no complications or recurrence during the 1-year follow-up period. We present this rare case with a review of relevant previous literatures.

scholarly journals Upbeat vertical nystagmus after brain stem cavernoma resection: a rare case of nucleus intercalatus/nucleus of roller injury

2020 ◽  
Vol 267 (10) ◽  
pp. 2865-2870
Author(s):  
Torstein R. Meling ◽  
Aria Nouri ◽  
Adrien May ◽  
Nils Guinand ◽  
Maria Isabel Vargas ◽  
...  
Keyword(s):  
Rare Case ◽  
Vascular Malformations ◽  
Clinical Manifestations ◽  
Neurological Injury ◽  
Medial Longitudinal Fasciculus ◽  
Blurred Vision ◽  
Complete Excision ◽  
First Case ◽  
Vertical Nystagmus ◽  
Upbeat Nystagmus

Abstract Introduction CNS cavernomas are a type of raspberry-shaped vascular malformations that are typically asymptomatic, but can result in haemorrhage, neurological injury, and seizures. Here, we present a rare case of a brainstem cavernoma that was surgically resected whereafter an upbeat nystagmus presented postoperatively. Case report A 42-year old man presented with sudden-onset nausea, vomiting, vertigo, blurred vision, marked imbalance and difficulty swallowing. Neurological evaluation showed bilateral ataxia, generalized hyperreflexia with left-sided predominance, predominantly horizontal gaze evoked nystagmus on right and left gaze, slight left labial asymmetry, uvula deviation to the right, and tongue deviation to the left. MRI demonstrated a 13-mm cavernoma with haemorrhage and oedema in the medulla oblongata. Surgery was performed via a minimal-invasive, midline approach. Complete excision was confirmed on postoperative MRI. The patient recovered well and became almost neurologically intact. However, he complained of mainly vertical oscillopsia. The videonystagmography revealed a new-onset spontaneous upbeat nystagmus in all gaze directions, not suppressed by fixation. An injury of the rarely described intercalatus nucleus/nucleus of Roller is thought to be the cause. Conclusion Upbeat nystagmus can be related to several lesions of the brainstem, including the medial longitudinal fasciculus, the pons, and the dorsal medulla. To our knowledge, this is the first case of an iatrogenic lesion of the nucleus intercalatus/nucleus of Roller resulting in an upbeat vertical nystagmus. For neurologists, it is important to be aware of the function of this nucleus for assessment of clinical manifestations due to lesions within this region.

A Rare Case: Primary Venous Malformation in Parietal Bone

2021 ◽  
pp. 1-4
Author(s):  
Serhat Yarar ◽  
Ilker Uyar ◽  
Mehmet Emin Cem Yildirim ◽  
Mehmet Dadacı ◽  
Bilsev Ince
Keyword(s):  
Vascular Malformation ◽  
Rare Case ◽  
Histopathological Examination ◽  
Vascular Malformations ◽  
Venous Malformation ◽  
Parietal Bone ◽  
Hair Density ◽  
Trichilemmal Cyst ◽  
Advancement Flaps ◽  
Rotation Advancement

Primary intraosseous vascular malformations (PIVMs) are rare intraosseous lesions, accounting for approximately 0.5–1% of all intraosseous tumours. In this case report, we aimed to present a rare case of intraosseous vascular malformation causing a large lytic area in the parietal bone. A 25-year-old male patient was admitted to the clinic with a mass on the parietal bone. On physical examination, it was observed that the hair density on the mass was decreased, the mass had a soft consistency, and there was no pain on palpation. The patient was operated under local anaesthesia with a provisional diagnosis of a trichilemmal cyst. However, intraoperative diagnosis was a vascular malformation. There was a 3-cm full-thickness defect on the parietal bone caused by the lesion. The mass was excised completely while preserving the integrity of the dura. The resulting defect was reconstructed with bilateral rotation advancement flaps. The calvarial defect was not reconstructed due to equipment inadequacy. No complications were encountered in the postoperative period. Ninety-three PIVM cases have been reported in the skull since 1845. In very few of these cases, the mass is located in the parietal bone. The pathogenesis of PIVMs is not completely understood. The definitive diagnosis is made by histopathological examination. The therapeutic gold standard is surgery. Surgeons should keep in mind that radiological examination before the operation could prevent undesirable complications.

scholarly journals Spontaneously Resolved Macrocystic Lymphatic Malformations: Predictive Variables and Outcomes

2017 ◽  
Vol 25 (1) ◽  
pp. 27-31 ◽  
Author(s):  
Michael J. Phang ◽  
Douglas J. Courtemanche ◽  
Marija Bucevska ◽  
Claudia Malic ◽  
Jugpal S. Arneja
Keyword(s):  
Respiratory Tract ◽  
Median Time ◽  
Vascular Malformations ◽  
Neck Region ◽  
Retrospective Chart Review ◽  
Spontaneous Resolution ◽  
Low Flow ◽  
Upper Respiratory Tract ◽  
Lymphatic Malformations ◽  
Upper Respiratory

Introduction: Lymphatic malformations are benign, low-flow vascular malformations that typically present at or near birth. Due to morbidity associated with operative treatment, nonoperative treatment with injection of sclerosant has become the mainstay of therapy. Over the past 15 years, several patients at our centre with macrocystic (>2 cm cyst size) lymphatic malformations have seen their lesions resolve spontaneously while awaiting treatment. In this study, we review features of these patients that may contribute to spontaneous resolution. Method: A retrospective chart review was conducted from our Vascular Anomalies Clinic database (1999-2014) of all macrocystic lymphatic malformations; characteristics of patients with spontaneous resolution were reviewed. Results: Of 61 patients with macrocystic lymphatic malformations, 7 cases (11.5%; 4 females, 3 males) resolved spontaneously. Median age at malformation appearance was 2 years (range: 0-6.5 years), with median age at resolution of 4 years (range: 10 months-7 years). Median time from appearance to resolution was 24 months (range: 3-43 months), with a median follow-up time of 4 years (range: 1-15 years). All but 1 case was associated with local or upper respiratory tract infection antecedent to resolution. Six of the 7 lesions were located in the neck. Conclusion: Among the cases reviewed, there was a common theme of upper respiratory tract or local infection antecedent to spontaneous lesion resolution. Compared to the literature, our proportion of malformations presenting after birth and the proportion of malformations presenting in the neck region were higher than those of other series. Although side effects associated with treatment are generally mild and/or rare, risks related to sclerotherapy and the accompanying requirement for general anesthesia in pediatric populations nevertheless exist. As the median time from lesion appearance to resolution was 24 months, it may be reasonable to observe these malformations for up to 24 months before proceeding with treatment if the lesion does not impair function and disfigurement is not considerable, particularly if the lesion presents after birth and/or is located in the neck region.

scholarly journals Primary versus Metastatic Gastrointestinal Melanoma: A Rare Case and Review of Current Literature

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Malorie Simons ◽  
Jason Ferreira ◽  
Rashna Meunier ◽  
Steven Moss
Keyword(s):  
Current Literature ◽  
Rare Case ◽  
Recent Literature ◽  
Primary Source ◽  
Unknown Origin ◽  
Primary Lesion ◽  
Unknown Primary ◽  
Gi Tract

Gastrointestinal (GI) melanomas are a rare diagnostic entity. Although there have been cases of melanomas solely in the GI tract, many debate their true origin: the gut versus a distant, undetected primary lesion that regressed known as melanoma of unknown primary. We present a case that involved diagnosing a GI melanoma and then backtracking to find a possible primary source. We review the most recent literature regarding possible etiologies of primary GI melanomas and how to differentiate whether it has a primary, metastatic, or unknown origin.

scholarly journals Linear epidermolytic verrucous epidermal nevus with lichen planus: A rare case report

2015 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
SureshKumar Jain ◽  
Prafull Mehta ◽  
Ramesh Kumar ◽  
Manoj Sharma ◽  
Kapil Vyas
Keyword(s):  
Case Report ◽  
Lichen Planus ◽  
Rare Case ◽  
Epidermal Nevus ◽  
Rare Case Report

scholarly journals The successful use of bipolar radiofrequency ablation (coblation) in treatment of a lymphatic malformation affecting the upper airway

2016 ◽  
Vol 2 (4) ◽  
pp. 267 ◽  
Author(s):  
Lynn H. Koh ◽  
Henry KK Tan
Keyword(s):  
Case Report ◽  
Radiofrequency Ablation ◽  
Upper Airway ◽  
Neck Region ◽  
Lymphatic Malformation ◽  
Treatment Modalities ◽  
Airway Compromise ◽  
Lymphatic Malformations ◽  
Head And Neck Region ◽  
Bipolar Radiofrequency

<p class="abstract">Lymphatic malformations of the head and neck region frequently involve the upper aero digestive tract. Patients with these lymphatic malformations may present in early infancy with sudden airway compromise. This necessitates early intervention with intubation or tracheostomy for airway stabilization. The etiology and pathogenesis of lymphatic malformations is still unclear, and a wide array of treatment modalities has been proposed. We present a case report of a neonate with a lymphatic malformation involving the upper airway, and discuss how the patient was initially stabilized with a tracheostomy, following which he underwent a series of staged procedures, including bipolar radiofrequency ablation, which eventually led to successful decannulation.</p>

Abstract 1122‐000135: Application of the Berenstein‐DeLeacy Grading Scale to Assess Treatment Outcome in Orbital Lymphatic Malformations

2021 ◽  
Vol 1 (S1) ◽  
Author(s):  
Reade De Leacy ◽  
Maximilian J Bazil ◽  
Neha Siddiqui ◽  
Stavros Matsoukas ◽  
Tomoyoshi Shigematsu ◽  
...  
Keyword(s):  
Granulation Tissue ◽  
Vascular Malformations ◽  
Low Flow ◽  
Complete Regression ◽  
Lymphatic Malformations ◽  
Interval Change ◽  
Radiologic Findings ◽  
Scale Scores ◽  
Complete Obliteration ◽  
Initial Imaging

Introduction : Lymphatic malformations (LMs) are low‐flow vascular malformations that arise as a result of erroneous vascular development during embryogenesis. Prior to the advent of the Berenstein‐De Leacy (BDL) scale, no reproducible grading system had been designed to compare sclerotherapy outcomes on the basis of radiologic findings. The soft‐tissue detail, absence of ionizing radiation, safety profile, and ubiquity of MR imaging made it an ideal technique on which the imaging‐based criteria was developed. The BDL scale ranges from 1–7 denoting complete obliteration to significant progression respectively. A “B” modifier is assigned for identification of granulation tissue in the treatment bed. We examine and validate the BDL scale on a cohort of 16 orbital LMs from our practice. Methods : Orbital LMs treated with sclerotherapy at our practice between 2000 and 2021 were assessed by an attending physician prior to initial and after final treatment to assign scale scores. The assigned scores represent changes in the orbit as defined by pre‐ and post‐septal spaces, above and below eyelids, and intra/extraconal spaces going to the coronal apex without the cavernous sinus. Results : The median age at initial imaging was 24 months (range: 1–445 months) and 108 months (range 12–528) at final imaging. The median imaging interval was 61 month. Males and females were represented in our cohort equally. Six cases presented with right orbital LMs (37.5%) and 10 presented on the left (62.5%). Six cases presented with macrocystic malformations (37.5%), five cases with microcystic (31.25%), and five cases with mixed (31.25%). 11 patients were treated with bleomycin and 5 patients were treated with bleomycin and doxycycline. BDL scale scores ranged from 2–7 with one case assigned the “B” modifier. Two cases were labelled as BDL7, or gross interval progression of the LM. Four cases were labelled as BDL6, or regression of the LM in one region with progression into a previously uninvolved/untreated area. Three cases were labelled as BDL5 with minimal or no gross interval change. One case was labelled as BDL4 and assigned the “B” modifier for partial regression with >50% estimated volume of residual malformation and granulation tissue in the treatment bed. Three cases were labelled as BDL3, or partial repression with <50% estimated volume of residual malformation. One case was labelled as BDL2 with near‐complete regression with trace residual of the lesion. No cases were labelled as BDL1, or complete regression of the lesion. Conclusions : The BDL scale was applied to a series of 16 orbital LMs to demonstrate its versatility in describing the treatment progression of this historically difficult‐to‐classify malformation. We hope visualization of BDL scores for orbital LMs will assist other interventionalists with incorporating this scale as a metric for treatment progression and outcomes.

Complicated chylous pericardial and thoracic effusion as the first clinical manifestation of thoracic lymphatic malformation

2019 ◽  
Vol 30 (4) ◽  
pp. 654-655
Author(s):  
Sigrid Wiesner ◽  
Wibke Uller ◽  
Hans-Stefan Hofmann ◽  
Michael Ried
Keyword(s):  
Clinical Manifestation ◽  
Lymphatic Vessels ◽  
Lymphatic Malformation ◽  
Lymphatic Malformations ◽  
Congenital Origin ◽  
Therapeutic Measures ◽  
Post Traumatic

Abstract Lymphatic malformations are benign focal proliferations of lymphatic vessels with a congenital origin. We present a case of an 18-year-old patient with post-traumatic chylopericardium and recurrent left-sided chylothorax, who was unresponsive to a variety of therapeutic measures until he was diagnosed with a complicated thoracic lymphatic malformation.

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