Digital Glomus Tumor - A Commonly Undiagnosed Cause of Finger Pain: Case Report.

Glomus tumors are rare vascular hamartomas most commonly found in the subungual region of the fingers. They present with a classic triad of paroxysmal pain, point tenderness, and cold sensitivity. The diagnosis is often missed for several years due to under recognition of this condition. A 42-year-old female presented with a several year history of pain in the middle finger when it was struck or exposed to cold. She had point tenderness on the fingernail, and increased curvature of the nail. Magnetic Resonance Imaging (MRI) revealed a 7mm subungual glomus tumor. The tumor was surgically excised via a transungual approach, resulting in complete relief of her pain. Glomus tumors are diagnosed clinically based on the presence of classic symptoms and positive provocative tests. These tests include point tenderness on palpation and pain when ice is placed on the digit. MRI imaging can be used when the diagnosis is unclear or to localize the tumor prior to surgery. Increased awareness of this condition among physicians could reduce the time to diagnosis and treatment.

A rare combination of tumor-induced osteomalacia caused by sinonasal glomangiopericytoma and coexisting parathyroid adenoma: case report and literature review.

BACKGROUND: Tumor-induced osteomalacia (TIO) is a rare, acquired disease of renal phosphate wasting and disturbed vitamin D homeostasis as a result of the action of a phosphaturic protein - FGF-23, produced by a neoplasm. Although the clinical and biochemical profile of the syndrome is characteristic, it remains underreported and unrecognized by clinicians. Hyperparathyroidism is rarely associated with oncogenic osteomalacia, but it should be considered because of potentially life-threatening hypophosphatemia caused by both conditions. CASE PRESENTATION: We report a case of a 42-year-old woman admitted to the Department of Otolaryngology of the Military Institute of Medicine in Warsaw for the endoscopic resection of hormonally active glomangiopericytoma extending into the anterior skull base. She presented with a 5-year history of musculoskeletal pain and progressive weakness of the extremities which finally led her to become bedridden. After the excision of the tumor her symptoms and laboratory results gradually improved except increasing PTH serum levels. Further examination revealed a parathyroid proliferative tumor, which was surgically removed. The patient walked without aids at follow-up 16 months after the surgery. CONCLUSIONS: This case is unusual because of tumor-induced osteomalacia and parathyroid adenoma occurring concomitantly. Further investigations of FGF-23 and PTH interplay should be conducted to elucidate the pathogenesis of hyperparathyroidism and tumorigenesis in some cases of TIO. By presenting this case, we wanted to remind clinicians of a rare and misdiagnosed paraneoplastic syndrome and highlight the importance of monitoring PTH concentrations during the follow-up of patients with TIO.

Transungual Excision of Glomus Tumors: A Treatment and Quality of Life Study.

BACKGROUND: Glomus tumors are rare benign painful tumors, frequently found in the subungual region. Complete surgical excision is essential for relief of symptoms. The main postoperative complications are tumor recurrence and nail dystrophy. OBJECTIVE: To evaluate the long-term outcome and the impact on quality of life (QoL) of glomus tumors after a transungual approach. MATERIALS AND METHODS: A retrospective cohort study was conducted. Twenty-six patients underwent transungual excision of subungual glomus tumors. A self-administered questionnaire was sent to evaluate the postoperative outcome. Glomus tumor-related QoL was investigated using modified nail psoriasis (NPQ10) and onychomycosis questionnaires. RESULTS: A response rate of 85% was achieved. After a mean follow-up of 63 months after transungual excision of the tumor, the mean Numeric Pain Rating Score had improved from 7.9 (±SD 1.8) preoperatively, to 0.8 (±SD 1.9) (p < .000). Quality of life improved significantly: the mean NPQ10-score improved from 5.5 (±SD 3.4) to 0.64 (±SD 2.1) (p < .000). Nail-related sequelae were not reported in any of the patients. CONCLUSION: Our study showed that glomus tumors cause impairment on QoL, mostly due to severe pain. Surgical excision with the transungual approach is an effective treatment, without permanent damage to the nail unit that gives relief of pain and improves QoL.

Skin glomic tumors referred for local pain and cured by surgical removal.

BACKGROUND: Under the definition "glomus tumors" are often erroneously enclosed neoplasms that are absolutely unlike for origin, location, and behavior. Glomus tumors (GTs) are small but extremely painful skin tumors of mesenchymal origin. GTs derive from the neuromyoarterial glomus in adults of middle-age and are generally benign. Due to their small size, diagnosis is often difficult and patients harboring these tumors usually consult many physicians, including sometimes neurosurgeons. More familiar to neurosurgeons are neoplasms as glomus jugular, glomus vagale, and glomus tympanicum that instead all belong to the family of paragangliomas (PGs) and for this reason should not be confused with the aforementioned skin tumors. METHOD AND RESULTS: Here we present a brief review of these two different classes of tumors and also the clarification of any misunderstanding that may derive from an improper use of the terminology. In order to illustrate why skin tumors may interest neurosurgeons, we have reviewed our institutional series of outpatient surgical procedures. Differential diagnosis with other tumors that appear as cutaneous nodules is also discussed. From January 2012 to May 2015, seven patients harboring a GT (six male and one female) were treated. The age ranged from 34 to 71 years (mean, 54.1). The clinical suspect of GT, was validated by ultrasound (US) and, if necessary, by magnetic resonance imaging (MRI). All patients underwent surgery for total tumor removal. Immediate pain relief was obtained in all the patients, and no recurrences were observed during follow-up. Histology confirmed the diagnosis of GT. CONCLUSIONS: Subcutaneous painful nodules, originating from the glomus body, are properly called GTs. Unlikely from other tumors, as schwannomas or neurofibromas, GTs are the cause of pain that is disproportionate to their tiny size and that is not associated to neurological disturbances. Surgical treatment allows a complete regression of pain with significant patient satisfaction. Neoplasms originating from neuroepithelial cells, on the contrary, should not be defined as GTs.

[Glomuvenous malformations]. / Glomuvenöse Malformationen.

SYMPTOMS: A patient presented suffering from neural pain in the medial foot for a period of over 20 years. DIAGNOSIS: Diagnostic showed a widely spread soft-tissue tumor consisting of confluent glomuvenous malformations that was responsible for the immense pain syndrome.The solitary or multiform-appearing knots are not compressible and manifest as the characteristic syndromes of regional pain, sensitivity to coldness, or local pressure pain. Alternatively, the patient could also be completely symptom-free. TREATMENT: Because of the dimension of the tumor and the degree of suffering, a radical resection with simultaneous microsurgical reconstruction was carried out. Twelve weeks postoperatively, healing of the flap stabilized, the foot is fully weight-bearing, and the patient is pain-free.

Glomus tumors in individuals with neurofibromatosis type 1.

BACKGROUND: Glomus tumors have recently been reported in individuals with the neurofibromatosis type 1 (NF1) cancer disposition syndrome. We compare the clinical and molecular features of these painful hamartomas in a series of sporadic and NF1-associated cases. OBJECTIVE: We sought to evaluate the association of NF1 with glomus tumors and to compare NF1-associated glomus tumors with sporadic glomus tumors. METHODS: We conducted a retrospective cohort study of all individuals with a histopathologic diagnosis of glomus tumor at a large tertiary care center from January 1998 to January 2013. Charts were reviewed for a coexisting diagnosis of NF1. RESULTS: A total of 42 glomus tumors were identified in 34 individuals. Twelve (28.6%) were found in 6 patients with NF1. In 28 individuals with 30 sporadic tumors, there was no coexisting medical condition. Although multifocal tumors (16.7%) and tumor recurrence (33.3%) were more common in association with NF1, these trends did not reach statistical significance. NF1-associated glomus tumors exhibited no neurofibromin immunoreactivity, whereas their sporadic counterparts retained neurofibromin expression. LIMITATIONS: The retrospective design resulted in incomplete data capture. CONCLUSIONS: Detection of glomus tumors should raise suspicion for a concurrent diagnosis of NF1.

Purplish tender nodule on the arm.

We present a patient with a painful glomus tumor of the right upper arm.

A 65-Year-Old Man Presenting to the Emergency Department with Gastric Hemorrhage Caused by a Glomus Tumor.

BACKGROUND Glomus tumor is a benign but rapidly growing mesenchymal tumor that is a rare in the gastrointestinal tract, can be locally invasive due to its rapid growth, and can result in perforation of a viscus. We report a 65-year-old man presenting as an emergency with gastric hemorrhage and gastric glomus tumor. CASE REPORT A 65-year-old man came to our hospital for a life-threatening upper digestive hemorrhage. The preoperative examinations (digestive endoscopy without sampling of biopsy fragments and contrast-enhanced computer tomography) led to the presumptive diagnosis of gastrointestinal stromal tumor. Wedge resection of the gastric wall was performed. The histopathological examinations revealed a proliferation of round-oval cells of medium size with a solid disposition and in nests. This proliferation dissected the muscular tunic and caused ulceration of the gastric mucosa. Immunohistochemical tests confirmed the diagnosis of glomus tumor and excluded other diagnoses (neuroendocrine tumor or gastrointestinal stromal tumor). The postoperative evolution was favorable, and at the time of discharge, the biochemical test values normalized. CONCLUSIONS Pathologists are faced with a challenging task due to the deceptive appearance that can be presented by such a rare tumor. Histopathological and immunohistochemical examinations are essential in achieving a precise diagnosis and assessing the biological potential of the glomus tumor. Even if it is a benign tumor, the clinical picture it causes can still be a major risk to the patient's life. Consequently, ensuring effective case management becomes crucial, as it requires a thorough comprehension of all conditions encompassed in the differential diagnosis.

Glomus tumor causing chronic finger pain: ischemia test is a reliable clinical sign for the diagnosis. Case report and review of literature.

Glomus tumors are a rare, benign neoplasm arising from the neuroarterial structure known as the glomus body, which is a specialized arteriovenous shunt involved in temperature regulation. They account for less than 2% of soft tissue tumors and between 1% and 4.5% of tumors in the hand.. Despite their first descriptions appearing almost 100 years ago, late and missed diagnoses are common, leading to significant suffering. The classic diagnostic triad includes spontaneous pain, a sensation of pressure and tenderness, and cold hypersensitivity. Magnetic resonance imaging remains the most useful imaging modality. The abolition of pain after inflating a blood pressure cuff above the systolic blood pressure level (ischemia test) is highly diagnostic.Therefore, we suggest the routine use of this simple test in cases of upper limb pain of unclear etiology . Surgical excision is the treatment of choice and is curative.

A rare cause of AA amyloidosis: Glomus tumor and treatment with anakinra-Case report and literature review.

Systemic AA amyloidosis is associated with poorly controlled chronic inflammatory disorders. Chronic infections and inflammatory arthritis are the most common causes; however, they can also rarely occur as a complication of neoplastic disorders. The development of AA amyloidosis secondary to paraganglioma, which is a rare type of tumor, has rarely been reported in the literature. In this case, an 85-year-old female patient with a glomus tumor in the neck, who has been followed up over 50 years, applied with complaints of loss of appetite, nausea, and diarrhea for 5-6 months. While evaluating the patient, who had high levels of acute phase reactants, amyloidosis was diagnosed by salivary gland biopsy. No other cause was found to explain amyloidosis. The patient, who could not tolerate treatment with colchicine and azathioprine, is successfully treated with the interleukin-1 inhibitor anakinra. A rare relationship, systemic AA amyloidosis, which is thought to have developed as a result of long-standing jugular paraganglioma, is presented in this article. In addition, publications showing an association between paragangliomas and amyloidosis were reviewed.

Tracheal airway obstruction induced by a large glomangioma: discussion of management and literature review.

Glomus tumours (GTs) are rare benign neoplasms arising from modified smooth muscle cells (SMCs) surrounding arteriovenous anastomosis. Typically, these tumours are found in the distal portion of the digits, especially under the fingernails. A GTs originating from the trachea is extremely rare. We are presenting the case of a Caucasian man in his early 80s, presenting with upper airway obstruction and massive bleeding caused by a large tracheal tumour to which final diagnosis of glomangioma of the trachea was retained. Methods of diagnostics, management and follow-up are documented. The incidence of GTs accounts about 1.6% of soft tissue tumours, and they are mainly located in dermal and subcutaneous tissue but can be equally find throughout the body. However, tracheal glomus tumours are the most clinically significant as they can be malignant and cause life-threatening condition through central airway obstruction. Histological analysis provides certainty of diagnosis, and surgical resection is the main treatment option.

A rare case of a calcified glomus tumour in the thigh of an adolescent.

Glomus tumours are clinically defined by a triad of symptoms, i.e. paroxysmal pain, pinpoint tenderness and hypersensitivity to cold. These tumours typically affect the upper limbs, are small in size, superficially located and mostly found in adults. During a radiologic assessment of an idiopathic scoliosis in a 13-year-old girl, we found a calcified mass lesion in the soft tissue of the proximal thigh. The child was asymptomatic. Complementary exams permitted the definition of an interfascial calcified tumour with a long axis of 50 mm, with an inferior polar soft-tissue component. After excision, the anatomical pathology analysis confirmed the diagnosis of calcified glomus tumour. This clinical and radiologic presentation is particularly uncommon for a glomus tumour, which enriches the range of differential diagnoses of calcified masses in soft tissue.

Spitz nevus arising upon a congenital glomuvenous malformation.

There are several reports of the collision of vascular and pigmentary anomalies (e.g., phakomatosis pigmentovascularis) and the association between congenital melanocytic nevi and infantile hemangiomas. We report a case of Spitz nevus arising in skin overlying a congenital plaque-like glomuvenous malformation (GVM). This is the first report of a Spitz nevus arising in direct contiguity to a GVM.

Glomus tumor as a cause of coccydynia.

Glomus coccygeum is a network of glomus bodies located around pericoccygeal soft tissue. The question of whether it accounts for coccydynia has been debated. We report on a patient whose preoperative symptoms suggested the impression of glomus tumor of the coccyx; pain was relieved after removal of the lesion without coccygectomy. A 57-year-old woman was referred to us with a history of a pain in the coccygeal area lasting longer than 3 years. The patient complained of sharp pain whenever pressure was applied to the coccyx. Pain was aggravated by exposure to cold. MRI revealed a coccygeal lesion measuring 2 cm with a well-circumscribed margin. The lesion was excised without removal of any portion of the coccyx. The pathology report confirmed a glomus tumor, which was an identical finding to the conventional one of the subungual region. Ten months after surgery, she had no pain on the coccygeal region and no difficulty with sitting on a chair and in performing activities of daily living. Findings reported here suggest that although most glomus bodies are normal anatomical variants, development of a glomus tumor could occur in the coccygeal region and could be a cause of coccydynia.

Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors.

Neurofibromatosis type 1 (NF1) is a common, autosomal dominant, tumor-predisposition syndrome that arises secondary to mutations in NF1. Glomus tumors are painful benign tumors that originate from the glomus body in the fingers and toes due to biallelic inactivation of NF1. We karyotyped cultures from four previously reported and one new glomus tumor and hybridized tumor (and matching germline) DNA on Illumina HumanOmni1-Quad SNP arrays (≈ 1 × 10(6) SNPs). Two tumors displayed evidence of copy-neutral loss of heterozygosity of chromosome arm 17q not observed in the germline sample, consistent with a mitotic recombination event. One of these two tumors, NF1-G12, featured extreme polyploidy (near-tetraploidy, near-hexaploidy, or near-septaploidy) across all chromosomes. In the remaining four tumors, there were few cytogenetic abnormalities observed, and copy-number analysis was consistent with diploidy in all chromosomes. This is the first study of glomus tumors cytogenetics, to our knowledge, and the first to report biallelic inactivation of NF1 secondary to mitotic recombination of chromosome arm 17q in multiple NF1-associated glomus tumors. We have observed mitotic recombination in 22% of molecularly characterized NF1-associated glomus tumors, suggesting that it is a not uncommon mechanism in the reduction to homozygosity of the NF1 germline mutation in these tumors. In tumor NF1-G12, we hypothesize that mitotic recombination also "unmasked" (reduced to homozygosity) a hypomorphic germline allele in a gene on chromosome arm 17q associated with chromosomal instability, resulting in the extreme polyploidy.

Tracheal Glomus Tumor Complicated with Asthma Exacerbation in a Pregnant Woman.

A 34-year-old pregnant woman in the 34th week of gestation with uncontrolled asthma was admitted because of asthma exacerbation. Although she received bronchodilators and systemic corticosteroids, respiratory failure rapidly progressed. Chest computed tomography revealed a mass occluding approximately 80% of the tracheal lumen. After urgent Caesarean section, endobronchial resection was performed. The pathological findings of the resected tumor were compatible with tracheal glomus tumor. Tracheal tumors are often misdiagnosed as asthma, but its complication with asthma is rare. Even if the diagnosis of asthma is definitive, clinicians should consider coexisting diseases, including tracheal tumors, when asthma control is poor.

Glomus Tumor Within the Tensor Fascia Lata: A Case Report.

BACKGROUND Glomus tumors are rare, benign, soft-tissue lesions, usually occurring in the hand, but they can occur in other regions of the body, such as the thigh. Most of the time, extradigital glomus tumors are difficult to diagnose, and symptoms can persist for a long time. The usual clinical presentations consist of pain, tenderness at the site of the tumor, and hypersensitivity to cold. CASE REPORT We report a case of a GT of the proximal thigh in a 39-year-old man with left thigh pain without palpable mass for several years, without clear diagnosis. He had pain and hyperesthesia exacerbated by running. The patient was diagnosed initially by ultrasound imaging, which revealed a round, solid, hypoechoic, homogeneous mass in the left upper thigh. Magnetic resonance imaging (MRI) with contrast showed a well-defined intramuscular lesion in the tensor fascia lata. A percutaneous biopsy was done through ultrasound guidance, followed by excisional biopsy and immediate pain relief. CONCLUSIONS Glomus tumors of the thigh are a rare neoplasm, especially in the proximal thigh; they are difficult to diagnose and are associated with morbidity. Diagnosis can be made through a systematic approach and simple investigation, such as via ultrasonography. A percutaneous biopsy can help in drawing up a management plan, and malignancy must be considered if the lesion is suspicious. Symptoms can persist in case of incomplete resection or unrecognized synchronous satellite lesions; thus, symptomatic neuroma should be considered.

Metastatic Malignant Glomus Jugulare Tumor: A Rare Case Report with Clinical Manifestations and Treatment Approach.

BACKGROUND Paragangliomas are neuroendocrine neoplasms derived from paraganglia of the sympathetic and parasympathetic nervous systems. Parasympathetic ganglia-derived tumors, also called non-chromaffin, are located almost exclusively in the neck and skull base and are usually non-secretory and inactive. A case of malignant glomus jugulare with a metastatic cervical lymph node is described here. CASE REPORT A 24-year-old woman was referred to an otolaryngology clinic for concern of voice change for 1 month, which was associated with right progressive hearing loss, pulsating tinnitus, and right facial weakness. A clinical examination revealed a reddish mass in the right ear behind an intact tympanic membrane with right facial weakness of House-Brackmann grade VI. A bedside flexible nasopharyngoscopy revealed an immobile right vocal fold. A computed tomography scan of the brain revealed a destructive lesion within the right jugular foramen. The patient underwent embolization followed by glomus tumor resection via infra-temporal fossa with Fisch type A approach. Pathology revealed that the tumor was an infiltrative epithelioid tumor with a spindle and nesting pattern separated by fibrovascular stroma. The submitted lateral neck lymph node revealed a metastatic tumor. CONCLUSIONS Glomus jugulare tumors are uncommon paragangliomas, and malignant behavior with metastasis is extremely rare. Metastatic tumors are often associated with facial and vagal nerves palsy. There are no histological features that distinguish malignant glomus jugulare tumors. Malignant neoplasms are characterized by the presence of metastases. Tumors of the glomus jugulare that are malignant are treated with surgery, radiotherapy, or both. However, our search of the literature revealed no clear guidelines, given the scarcity of cases. Moreover, the presence of metastasis increases the risk of death.