vascularity of neurofibroma

PURPOSE: To report a case of severe retinal ischemia in an infant with neurofibromatosis type 1. METHODS: Chart review, analysis of imaging studies, and review of literature. RESULTS: A boy born at 37 weeks postmenstrual age with neurofibromatosis type 1 was noted to have a large plexiform neurofibroma with left-sided involvement of the cavernous sinus, internal carotid artery, orbit, and optic nerve. He was managed for left eye glaucoma with anti-hypertensive eye drops, and at 8 months of age, he was referred for retinal evaluation...

Patients with neurofibromatosis type 1 not only have characteristic skin findings but are also known to have vascular disorders due to vascular vulnerability. A 44-year-old man with previously undiagnosed neurofibromatosis type 1 was brought to the emergency room due to a sudden subcutaneous hematoma with no history of trauma. Angiography revealed extravasation from the parietal branch of the right superficial temporal artery, which was embolized with n-butyl-2-cyanoacrylate. However, the next day, the patient exhibited an increased subcutaneous hematoma, and new extravascular leakage was detected at the frontal branch of the superficial temporal artery, which was also embolized with n-butyl-2-cyanoacrylate...

AIM: The current study aimed to evaluate the use of magnetic resonance imaging (MRI) in the diagnosis of extremity soft tissue tumors and tumor-like abnormalities. METHODS: This prospective observational study of 71 patients with soft tissue lesions of extremities was conducted at a tertiary hospital and teaching center in western India after obtaining Institutional Ethical Committee (IEC) clearance. All patients underwent an MRI of the region of interest on Siemens Magnetom Vida 3 Tesla MRI (Erlangen, Germany)...

Neurofibromatosis type 1 (NF-1) is a multisystem genetic disorder affecting the NF1 tumor suppressor gene. Patients typically develop superficial (cutaneous) and internal (plexiform) neurofibromas. The latter may rarely involve the liver locating in the hilum and encasing the portal vessels, leading to portal hypertension. Vascular abnormalities (NF-I vasculopathy) are a well-recognized manifestation of NF-1. Although the pathogenesis is not well-known, NF-1 vasculopathy involves arteries of both peripheral and cerebral territories, with venous thrombosis being exceptionally reported...

OBJECTIVE: To describe the clinical and sonographic characteristics of benign, retroperitoneal, pelvic peripheral nerve sheath tumors (PNST). METHODS: This was a retrospective, single, gynecologic oncology center study conducted between 1 January 2018 and 31 August 2022. All ultrasound images, clips, and final specimens of benign PNSTs were reviewed by the authors to describe (1) the ultrasound appearance of the tumors using the terminology of the International Ovarian Tumor Analysis (IOTA), Morphological Uterus Sonographic Assessment (MUSA) and Vulvar International Tumor Analysis (VITA) groups on a predefined ultrasound assessment form, (2) the origin of the tumors in relation to nerves and pelvic anatomy, and (3) the correlation between ultrasound features and histotopograms...

Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by pathogenic variants in the NF1 gene, encoding a multidomain inhibitor of Ras activity. Thus, NF1 is considered a RASopathy and drugs targeting the RAS/mitogen-activated protein kinase (MAPK) pathway, such as the MAP kinase (MEK) 1/2 inhibitor Selumetinib, are promising therapeutic options to treat NF1-associated tumors, especially plexiform neurofibromas and optic way gliomas. However, surgical treatment is often required for NF1-related cerebrovascular manifestations, such as moyamoya syndrome (MMS)...

Complications of neurofibromatosis type 1 include fatal bleeding events due to vascular fragility. In this case of hemorrhagic shock due to a neurofibroma, the bleeding was controlled using an occlusion balloon and endovascular treatment which stabilized the patient. Systemic vascular investigation for bleeding sites is important to prevent fatal outcomes.

Nasal alar reconstruction with the free auricular helix flap is challenging because the flap is prone to congestion. We report two cases of successful nasal alar reconstruction using free auricular helix flaps utilizing the flow-through concept. Case 1 was a 37-year-old man presented with a basal cell carcinoma in the nasal cavity. After radical excision, we transferred a 20 × 20 mm2 free flow-through auricular helix flap by interposing the T-portion of the superficial temporal artery of the flap to the transected facial artery...

Neurofibromatosis type 1 (NF1) can cause vascular complications even in undiagnosed NF1 patients. A ruptured aneurysm of the branches of the subclavian artery is a rare but life-threatening event, and the hemorrhage can cause upper airway obstruction. We present a case of NF1 patient with a ruptured transverse cervical artery aneurysm, which led to a nearly obstructed airway. A 52-year-old man who was not previously diagnosed with NF1 presented with sudden pain from the left shoulder to the neck. Since childhood, he has had multiple cutaneous neurofibromas and café-au-lait macules, and freckling in the bilateral axillae...

BACKGROUND: In cases of neurofibromatosis in which the bleeding source is considered strongly related to a neurofibroma, an open surgical approach could risk uncontrollable bleeding from the vascular wall infiltration by neurofibroma. The case of a neurofibromatosis type 1 (NF1)-associated arteriovenous fistula presenting with a life-threatening cervical hematoma that was successfully treated with alternative treatment is described. OBSERVATIONS: A 68-year-old woman diagnosed with NF1 presented with sudden onset of a spontaneous right cervical mass...

Neurofibromatosis is an autosomal dominant disorder characterized by tumors of the nervous system and skin. Plexiform neurofibromas are common complications of neurofibromatosis type 1 and can cause large facial deformities. Vascular anomalies are in turn a rare manifestation of neurofibromatosis. We present the case of a 48-year-old female patient with right hemifacial neurofibromatosis associated with venous vascular malformation, previously treated surgically and then with sclerosing agents, determining severe residual facial deformity...

BACKGROUND: Mediastinal cavernous hemangiomas are extremely rare vascular tumors. To the best of our knowledge less than 20 cases of posterior mediastinal hemangioma have been reported in literature, and this is the first case of mediastinal cavernous hemangioma presenting with massive pleural effusion. CASE PRESENTATION: We report a case of a 56-year-old female who presented with cough and chest tightness and was found with a massive pleural effusion in chest CT...

Solitary fibrous tumor (SFT) is a benign mesenchymal neoplasm originally described in pleura with a rare presentation in the oral cavity. Herein, we report a case of a 28-year-old male patient who presented an asymptomatic slow-growing mass in the anterior part of the tongue. Intraoral examination revealed a well-circumscribed mass covered by normal mucosa with a fibrous consistency. Due to non-specific clinical findings, the initial diagnostic hypotheses include benign submucosal neoplasms such as leiomyoma, neurofibroma, SFT, and others...

BACKGROUND: Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome, due to heterozygous pathogenic variants in NF1 gene. The main clinical manifestations are multiple café au lait spots, axillary and inguinal freckling, cutaneous and plexiform neurofibromas, optic glioma, Lisch nodules and osseous lesions, such as sphenoid and tibial dysplasia. Vasculopathy is another feature of NF1; it consists of stenosis, aneurysms, and arteriovenous malformations, frequently involving renal arteries...

Neurofibromatosis type 1 (NF1) is a common, autosomal dominant neurocutaneous syndrome. The most frequent clinical manifestations include multiple neurofibromas, café-au-lait spots, dystrophic scoliosis, benign and malignant peripheral nerve sheath tumors, and paragangliomas. Neurofibromatosis type 1 vasculopathy is a less well-recognized constellation of vascular pathologies that can cause significant medical complications in patients with NF1. A rare manifestation of this process is neurofibroma infiltration of vasculature with resultant bleeding...

BACKGROUND: Neurofibromatosis type 1 (NF-1) is a common autosomal dominant genetic disorder. It is characterized by café-au-lait spots and cutaneous neurofibromas. Although NF-1 typically involves the skin, nerves, bones, and eyes, vascular manifestation in the form of devastating hemorrhage can occur rarely. CASE SUMMARY: We present the case of a 47-year-old female with NF-1 who had a ruptured right lower limb arterial malformation. She presented with sudden right lower limb swelling for two hours and symptoms of hemorrhagic shock on admission...

BACKGROUND: Carpal tunnel syndrome (CTS) is an entrapment neuropathy due to the compression of the median nerve throughout the carpal tunnel. It is the most common entrapment neuropathy with an estimated prevalence of 4-7%. Surgical management is more effective in moderate-to-severe and severe CTS. Unfortunately, CTS recurs in approximately 20% of the patients, and up to 12% of these patients require reoperation. Knowledge of normal anatomy and variations would improve the success rate of the index surgeries...

Neurofibromatosis type 1 (NF1) is a variable penetrance autosomal dominant condition predominantly involving the peripheral nervous system. NF1 exhibits a wide spectrum of clinical patterns involving the skin, eye, brain, spinal cord, and, to a lesser extent, long bones and arteries. Arterial stenosis or aneurysms have been variously studied, but the association with NF1 has not been firmly established. A 31-year-old gentleman with NF1 experienced progressive neck pain over a five-month period, associated with limited range of motion and dysphagia...

Background: Myxoid soft tissue tumors are rare and diagnostically challenging group of tumors with varied biological behavior ranging from benign, locally aggressive to distantly metastasizing malignant tumors. Aims: The objectives of the study are to identify the relative frequency and distribution of myxoid soft tissue tumors among patients in a tertiary care hospital and to study the clinicopathological features of these tumors. This was a retrospective cross-sectional study conducted in the department of pathology of a tertiary care hospital from January 2008 to December 2013...

This guideline aims to improve the efficiency and safety of lasers and optical radiation sources with similar effects (especially IPL). Laser therapy of skin lesions with an increased amount of melanocytes should be performed with caution. Laser treatment of pigmented melanocytic nevi is not recommended. The guideline contains recommendations regarding the treatment of lentigines and café-au-lait spots, non-pigmented dermal nevi, Becker nevus, nevus of Ota/Hori/Ito and melasma. Further recommendations focus on the treatment of skin lesions without an increased amount of melanocytes (ephelides, postinflammatory hyperpigmentation including berloque dermatitis, seborrheic keratoses, traumatic/decorative tattoos and metallic deposits), hypopigmentation (vitiligo), benign non-pigmented neoplasms (fibrous papule of the nose, nevus sebaceus, epidermal nevus, neurofibroma, sebaceous gland hyperplasia, syringoma, xanthelasma palpebrarum), inflammatory dermatoses (acne papulopustulosa/conglobata, acne inversa, granuloma faciale, lichen sclerosus, lupus erythematosus, psoriasis vulgaris, rosacea, rhinophyma), wrinkles/dermatochalasis/striae, hypertrichosis, scars (atrophic, hypertrophic; keloids, burn/scald scars), laser-assisted skin healing, onychomycosis, precancerous lesions and malignant tumors (actinic keratoses/field cancerization, cheilitis actinica, basal cell carcinoma), vascular skin lesions (angiokeratoma, angioma, hemangioma, malformation, spider veins, granuloma telangiectaticum (pyogenic granuloma), rubeosis (erythrosis interfollicularis colli, ulerythema ophryogenes), nevus flammeus, telangiectasias and Osler's disease (hereditary hemorrhagic telangiectasia) and viral skin lesions (condylomata acuminata, mollusca contagiosa, verrucae planae juveniles/vulgares/ verrucae palmares et plantares)...