Fibrolipomatous Hamartoma Research Articles

Navigating Beyond Neuromas: A Riveting Case Report Unveiling Intriguing Differential Diagnoses

The purpose of this research was to evaluate the pathophysiology, diagnosis, and differentialdiagnosis of metatarsalgia by describing a clinical case of a rare lower limb injury, fibrolipomatous hamartoma of the plantar nerve (HFL). Material and Method: We present thecase of a 47-year-old patient with a one-year history of pain in the anterior region of the right foot, associated with paresthesia of the lesser toes and no history of trauma. Physical examination revealed hyperkeratosis on the third rocker over the 2nd metatarsal (MTT), localpain, and neuritic symptoms, along with a doubtful Mulder sign. X-rays showed a negative index with narrowing of the space in the second toe. Magnetic resonance imaging described findings suggestive of a possible Morton's neuroma in the second space. Initial conservative management was chosen. After the lack of response to conservative treatment, surgical intervention was decided, during which the digital nerve was visualized and excised. Subsequently, a Triple Weil osteotomy was performed on the second and third MTT to prevent transfer metatarsalgia. The postoperative period was uncomplicated, and the patient showed complete relief of symptoms without recurrence after surgical excision. HFL presentsas a rare benign tumor with an atypical location in the foot, generating symptoms similar to Morton's neuroma. The imperative need for a differential diagnosis with this entity is emphasized.

Lactante con nódulos en talones

Precalcaneal congenital fibrolipomatous hamartoma is a benign and uncommon entity characterized by the appearance at birth or months later of nodules of adipose tissue, symmetrical and asymptomatic in the soles of the feet. It follows a favourable evolution, with a growth according to the age of the child. The diagnosis is clinical, although ultrasound may be helpful. Aggressive follow-up tests or treatment are rarely needed. We present a clinical case of an infant who received such a diagnosis.

Ultrasound imaging of median nerve neurolipomatosis: literature review and clinical case description

Neurolipomatosis is a rare benign tumor of peripheral nerves. The nerves of the upper extremities are more often involved, in most cases, the median nerves in the carpal canal. Children and young people suffer mainly. The article describes a case of fibrolipomatous hamarthroma of the median nerve in a 24-year-old patient, the ultrasound image is compared with the results of intraoperative observation. Despite the characteristic clinical and pathomorphological picture of this condition, the issues of diagnosis and differential diagnosis remain relevant. A special role is given to ultrasound as a non-invasive, widespread method of lifetime diagnosis of the condition of peripheral nerves. The median nerve, due to its superficial location, is available for visualization, and understanding the ultrasound semiotics of fibrolipomatous hamartoma will allow timely determination of it at the stage of initial clinical manifestations and avoid unnecessary and aggravating neurological deficits of examination methods such as biopsy.

Segmental extraneural lipomatosis of the superficial peroneal nerve: illustrative case.

Adipose lesions of nerve are rare tumors that can cause nerve symptoms from either intrinsic or extrinsic compression. The authors present a case of a patient with a 10-year history of progressive, persistent leg pain and dorsal foot paresthesias/dysesthesias. Imaging revealed several nondistinct nodules of indeterminate significance along the course of the superficial peroneal nerve (SPN). Surgery demonstrated six distinct extraneural lipomas studded on a 10-cm segment of the main SPN and one of its muscular branches in the midleg. The lesions were adherent to the SPN, without an easy dissection plane; therefore, a neurectomy was performed. Histology revealed the nerve was associated with multiple extraneural lipomas with focal evidence of prior trauma. At 4 months postoperatively, the patient's pain had resolved completely, and she was able to resume normal physical activities. The current classification of adipose lesions of nerve includes intraneural and extraneural lipomas and lipomatosis of nerve (fibrolipomatous hamartoma). The unique features of the present case include the discrete and segmental nature of the extraneural lipomas adherent to the nerve. Its etiology is unknown, and the histology would be suggestive of either a traumatic or a degenerative process.

Trigeminal Lipomatosis: A Rare Cause of Intractable Neuralgia

Lipomatosis of nerve, earlier known as fibrolipomatous hamartoma is a rare condition which predominantly affects peripheral nerves, cranial nerve involvement being extremely uncommon. Preoperative consideration of this entity is of paramount importance as its inadvertent complete surgical resection may inevitably result in significant neurological deficit. We report a case of trigeminal lipomatosis in a young patient with trigeminal neuralgia.

PIK3CA mutation testing as a valuable molecular surrogate for lipomatosis of the median nerve: clinicopathological and molecular analysis of six cases

Lipomatosis of peripheral nerves (LPN, also known as fibrolipomatous or lipofibromatous hamartoma of peripheral nerves) is a very rare, benign, intraneural, tumorous lesion that predominantly involves the median nerve but may rarely affect any peripheral nerve. Recently, PIK3CA mutations have been reported in macrodactyly, a rare condition related to LPN, and in other localized lipomatous overgrowth syndromes. In this retrospective study, we report 6 cases of FPN involving the median nerve (4 of them identified among 570 patients with carpal tunnel syndrome who underwent surgical decompression at our center from 2012 to 2022 and two seen in consultation by one of the authors). All cases were diagnosed via biopsy or resection supplemented by MRI. Patients were 4 males and 2 females aged 23 to 60 years (mean 38 years). One patient with bilateral lesions had in addition extensive angiomatosis of the paravertebral region. Histological examination showed an abnormal amount of mature fatty tissue containing disordered fibrous bands, entrapping normal-looking nerve fibers with prominent perineurial and endoneurial fibrosis. Genetic analysis using snapshot assay constructed to detect hotspots mutations in PIK3CA revealed similar PIK3CA mutations (p.H1047R; c.3140A>G) in 5/6 cases (83.3%). Our study represents a further contribution to the literature on LPN and highlights the diagnostic value of PIK3CA mutation testing as surrogate tool in equivocal cases and in those lesions without associated macrodactyly, especially as the biopsy findings of this lesion are essentially nonspecific.

Precalcaneal Congenital Fibrolipomatous Hamartomas.

Precalcaneal congenital fibrolipomatous hamartomas are rare benign lesions that present in infancy. Lesions typically appear as unilateral or bilateral skin-colored asymptomatic subcutaneous nodules on the precalcaneal plantar heel. Diagnosis is clinical, and operative intervention is not indicated unless lesions are symptomatic. We report two cases of subcutaneous plantar nodules diagnosed as precalcaneal congenital fibrolipomatous hamartomas. The aim is to raise awareness of this rare diagnosis and emphasize its benign nature and conservative management.

Fibrolipomatous Hamartoma of the Median Nerve: A Case Report

Fibrolipomatous hamartoma, also known as fibrofatty overgrowth or perineural lipoma, or neural fibrolipoma, is a rare, benign, congenital lesion that occurs due to an abnormal overgrowth of mature fat and fibroblasts within the perineurium. This leads to the expansion of the nerve and separation of fascicles. It is more commonly observed in the median nerve at the wrist or hand level. Here, the authors presented the case of a 32-year-old female patient, who complained of swelling in the left wrist region for the past two years. The swelling gradually increased in size over one year and caused pain and paresthesia. Magnetic Resonance Imaging (MRI) of the left wrist revealed fibrolipomatous hamartoma of the median nerve. Surgical management was advised, but the patient declined and opted for conservative treatment for two months. Knowledge of this rare condition helps radiologists make an accurate diagnosis and may eliminate the need for invasive biopsy.

Fibrolipomatous hamartoma of the median nerve: a case report and literature review.

Fibrolipomatous hamartoma (FLH) of the nerve, also known as lipomatosis of the nerve, neurofibrillary lipomatous lesion, or intraneural li-poma, is a rare benign soft tissue tumor which mainly occurs in the nerves of the upper limb, especially in the median nerve.In April 2021, a 30-year-old male patient was secondly admitted to our hospital and underwent his third surgery, due to the recurrence of a mass and pain in the right palm, noticeable swelling and numbness of the right index and ring fingers, and limited flexion and extension activities of the right ring finger. He first visited our hospital in December 2017 due to a mass and pain in the right palm and swelling and numbness of the right index and ring fingers. When the clinician asked for the patient medical history, his parents stated that his right middle finger was swol-len after birth. When the patient was ten years old; he was diagnosed with “mac-rodactyly” at the local county hospital, not in our hospital, and subsequently, the middle finger was amputated at the metacarpophalangeal joint level at the local county hospital. The postoperative pathological examination was not per-formed at that time, which was the first surgery the patient received.FLH is clinically rare, and its exact epidemiology and etiology are poorly understood. FLH is highly suspected in cases where a painless mass is present in the wrist, combined with macrodactyly. Magnetic resonance imaging and pathological examination are helpful in clarifying the diagnosis. Although FLH is a benign tumor, an individual treatment plan is the best choice according to the severity of the patient’s symptoms. Therefore, further exploration and understanding of this disease by clinicians radiologists, and pathologists is necessary.

Fibrolipomatous hamartoma of the thoracic skin.

Fibrolipomatous hamartoma (FLH) is a benign proliferation characterized by the presence in the deep dermis of mature adipose tissue lobules separated by bundles of fibrous tissue. The variant best known to internists, neurologists and radiologists is the perineural FLH, which is localized around nerves, most frequently the median nerve, followed by the ulnar and sciatic (5). The variant best known to dermatologists and pediatricians is the precalcaneal FLH, which is evident from the earliest stages of life with a medial precalcaneal swelling of parenchymatous consistency and of little clinical importance. It tends to regress spontaneously, but even when it does not regress, it does not hinder walking (4). Rarer variants of FLH can affect the respiratory tree, localizing to the nasopharynx (3), the bronchi (1), or the lung (7). Although the most frequently affected skin site is the medial precalcaneal one, FLHs localized always in the calcaneal area, but posteriorly, have been described (6). Both in the latter and in the more frequent one located in the classical site, the most accredited pathogenetic hypothesis is a failure to regress of the pericalcaneal, fetal life adipose tissue. However, this hypothesis does not explain the location to the trunk of the current case. From a diagnostic point of view, when FLH is localized in the classical site, the diagnosis is clinical and a biopsy is not necessary. In cases located elsewhere, ultrasound is useful, showing hypoechoic lobules of the same echogenicity as the adipose tissue, separated and surrounded by hyperechoic bands that correspond to the dermal connective tissue (2). The benignity of the lesion, the absence of functional damage, the lack of esthetic damage, and the tendency to spontaneous regression make any therapy useless, once the diagnosis has been ascertained.

Fibrolipomatous Hamartoma of Median Nerve - A Diagnostic Challenge.

Introduction:Fibrolipomatous hamartoma (FLH) is an uncommon slow-growing tumor of benign etiology, which predominantly affects the median nerve.Case Report:We report the case study of a 17-year-old male patient, who presented with complaints of a gradually increasing localized swelling over the volar aspect of left hand for 1 year. A contrast-enhanced Magnetic resonance (MR) scan of the left hand was performed which demonstrated characteristic findings. The patient was treated surgically and post-excision histopathological examination confirmed the diagnosis.Conclusion:The characteristic MR imaging features of coaxial cable-like appearance on axial section or spaghetti shaped enlarged nerve fascicles and fibrous tissue is confirmatory for a definitive diagnosis of FLH, which alleviates the need for any unnecessary biopsy.

Lipofibromatous hamartoma of median nerve: A review article

Background: Lipofibromatous Hamartoma (LFH) is a rare condition that involves diffuse infiltration of peripheral nerves by normal-appearing fibrous and adipose tissues. Material and Methods: A literature search in Google Scholar, Medline, Embase, Current Contents, and Science Citation Index yielded original publications from January 1946 to August 2021 in English using the keywords “lipofibromatous hamartoma,” “fibrolipomatous hamartoma,” “lipofibroma,” “fibrolipoma,” “macrodystrophia lipomatosa,” “fibrofatty proliferation,” “intraneural lipoma,” “median nerve,” “median neuropathy,” and “peripheral nerve diseases.”Conclusion: LFH of the median nerve is a rare condition, with 180 reported cases in the English and French literature between January 1946 and November 2012. One third of cases are associated with macrodactyly, with no gender predominance. Patients are often affected at or shortly after birth and present before age 30 years.

Precalcaneal congenital fibrolipomatous hamartoma: a case report

Precalcaneal congenital fibrolipomatous hamartomas are represented by benign, asymptomatic and symmetrical nodules in the precalcaneal region of the heel. They are flesh-colored and mostly painless nodules. Classically, lesions present at birth or can appear in the weeks that follow birth, with no predominance of sex. Here, we present the case of 6-month-old girl with a bilateral symmetrical skin colored nodules localized on the precalacneal plantar region of her two heels.

FIBRO-LIPOMATOUS HAMARTOMA.

Fibro-lipomatous hamartomas are non-malignant tumors that are commonly seen in infants and rarely affect young adults and children.[1] Neural fibro-lipoma, lipo-fibromatous hamartoma, peri-neural lipoma and intra-neural lipoma are the other terms used for fibrolipomatous hamartoma. Among all, the median nerve is by far the most commonly affected(80% of cases) and less commonly the ulnar and radial nerves, and brachial plexus. [2] Although median nerve is the commonly affected nerve, lesions are also found in the radial, sciatic, plantar and ulnar nerves. Further,the median nerve is most commonly involved at the level of hand and wrist.[3]

Fibrolipomatous Hamartoma (FLH) of Median Nerve: A Rare Case Report and Review.

Fibrolipomatous hamartoma (FLH) is a benign tumorous condition of adipose tissue. It is a slow growing, rare tumour involving peripheral nerves with uncertain aetiology. The clinical presentation varies as per presenting severity. The gold standard to diagnose this rare entity is MRI and its management is still controversial. In this report, we have described one such rare presentation of FLH involving Median Nerve in an adolescent male who successfully witnessed resolution of symptoms following our surgical intervention for the same. A 17-year-old male presented to our hospital with a history of swelling in his left hand since past 1year. The detailedclinical evaluation revealed an irregular fusiform swelling extending from the ulnar aspect of wrist proximally to the thenar eminence along with involvement of the base of 2nd, 3rd and 4th fingers of left hand with consistency varying from soft to firm, tinel's sign positive and a terminal restriction of palmar and dorsiflexionmovements. Notably, motor weakness and sensory loss were not elicited. The definitive diagnosis was established by MRI of theleft hand. With due consent, the patient was undertaken for surgical intervention whereby his carpal tunnel was decompressed and biopsy of the lesion was sent for further histopathological evaluation as per the protocol. The absolute resolution in symptoms was reported by the patient following our intervention. A meticulous clinical and radiological correlation is required to diagnose such rare clinical entity for improvising the functionalquality of life. There is no definitive treatment for lipomatosis of nerve. However, a conservative approach is commonly advocated with successful results from decompression as in our patient.

Fibrolipomatous Hamartoma of the Median Nerve: An Outcome of Surgical Management in Six Consecutive Cases.

Background:Lipoma is a nonneurogenic benign tumor. Neurolipoma and fibrolipomatous hamartoma are variants of this universal tumor. All these variants are grouped under lipomatosis of the nerve. Majority of these tumors are asymptomatic, which can be observed. Symptomatic patients require surgery, which is not standardized. As there are insufficient number of cases, no randomized controlled studies have been performed in the treatment of fibrolipomatous hamartoma. The aim of our study was to determine the pattern of presentation of fibrolipomatous hamartoma, surgical management offered, and the outcome in the form of recovery and complications.Materials and Methods:This retrospective descriptive study includes six patients diagnosed with fibrolipomatous hamartoma over a period of 12 years. Patient details were collected from the medical records. Patients diagnosed of fibrolipomatous hamartoma in the hand were included. Patients with other soft-tissue tumors were excluded from the study. Out of six patients, four required excision of nerve followed by reconstruction using sural nerve graft and two underwent microsurgical dissection of neural element. Patients were instructed to take care of the operated hand during the recovery phase. Institutional physiotherapy protocol was started during the 3rd postoperative week. Follow-up period was between 1 and 3 years.Results:All the six patients were free from symptoms postoperatively. Minimal complications were noted in two patients, which were managed conservatively.Conclusion:Surgical excision of fibrolipomatous hamartoma of median nerve below elbow, with nerve dissection or with nerve reconstruction using sural nerve graft, followed by proper postoperative care and physiotherapy has proven beneficial for the patients in our study.

Rare tumors of retroperitoneum-A diagnostic challenge

Introduction: Retroperitoneum can show a wide spectrum of diseases, including a variety of rare benign and malignant neoplasms that can be either primary or metastatic. Most retroperitoneal tumors are malignant, and soft tissue sarcomas account for one third of the cases. The most common sarcomas occurring in the retroperitoneum are Liposarcomas, Malignant Fibrous Histiocytomas, and Leiomyosarcomas. Subtyping of these tumors is important for the different targeted therapeutic options available. Aims and Objectives: To study the distribution of benign and malignant retroperitoneal tumors. Materials and Methods: Study design – Prospective study done in the department of Pathology from January 2013 to December 2017. Immunohistochemistry (IHC) was done wherever necessary. Results: A total of 62 retroperitoneal tumours were studied of which 19 were benign & 43 were malignant. Rare benign tumors encountered were Adrenal Myelolipoma, Benign Fibrous Histiocytoma, Fibrolipomatous Hamartoma and multiple Paragangliomas. Rare malignant tumors were adult onset Wilms’ tumor, De-differentiated Liposarcoma, Epithelioid GIST, malignant GIST of the mesentery and Carcinosarcoma of Kidney. Conclusion: Amongst the retroperitoneal tumors received, malignant tumors were higher in distribution than benign tumors. The commonest epithelial tumor being Renal Cell Carcinoma and mesenchymal tumor being Liposarcoma. The study of rare malignant tumors was done with the help of IHC markers. Keywords: Retroperitoneum, Sarcoma, Immunohistochemistry, Epithelial, Mesenchymal, Rare tumors.

Strengthening the association of lipomatosis of nerve and nerve-territory overgrowth: a systematic review.

Lipomatosis of nerve (LN) is a massive enlargement of a nerve due to abundant proliferation of adipose and fibrotic tissue within the epineurium-part of the spectrum of adipose lesions of nerves, including intra- and extraneural lipomas. LN has been frequently associated with soft-tissue and/or osseous overgrowth. Unfortunately, much confusion exists since many names have been used for LN (e.g., fibrolipomatous hamartoma, macrodystrophia lipomatosa, and so on). To better understand this condition and to evaluate its association with nerve-territory overgrowth, the authors attempted to compile the world's literature on published LN cases. PubMed and Google Scholar databases were searched to identify published articles on LN cases, using a variety of terms. Publications in all languages were assessed. All publications with cases determined likely to be LN were read. Cases that provided clear clinicopathological and/or radiological evidence of LN were labeled as "definite" and cases that demonstrated features of LN (e.g., nerve-territory overgrowth) but lacked definite proof of nerve involvement were labeled as "probable." Initial screening revealed a total of 2465 papers. After exclusions, 281 publications reported cases with a definite diagnosis of LN and 120 articles reported cases with a probable diagnosis of LN. The authors identified 618 definite and 407 probable cases of LN. Sex distribution was balanced (51% female). Early diagnosis was common, with two-thirds of patients having symptoms in the 1st decade of life. The most commonly affected nerve was the median nerve (n = 391). Nerve-territory overgrowth was common (62% definite LN; 78% combined cases); overgrowth was exclusive to the territory of the affected nerve in all cases but 5. The authors present a comprehensive review and analysis of the literature of LN cases. One of the main findings was the nerve-territory overgrowth was associated with LN, especially when present earlier in life. The authors believe that all cases of LN associated with overgrowth can be explained on anatomical grounds, even in the few reported cases in which this is not immediately obvious.

Clinical presentation, diagnostic approach, and treatment of hand lipomas: a review

Lipomas are the most common soft tissue tumors of mesenchymal origin. They can appear anywhere on the body, and in rare cases they may present on the hands. Lipomas represent approximately 1% to 3.8% of all benign tumors in the hands. Typically, lipomas present in the fifth or sixth decade of life, occurring in both men and women. Lipomas may appear anywhere on the hand, often presenting as painless, slow-growing, and mobile masses. Symptoms may develop if local neurovascular structures are compressed. Differential diagnosis includes liposarcoma and fibrolipomatous hamartoma. To assist with clinical diagnosis, ultrasound, computed tomography, or magnetic resonance imaging may be utilized. The best way to confirm diagnosis is with histopathology. The main treatment for hand lipomas is surgical excision. Postoperative recurrence is rare.

Neurofibrolipoma of the dorsum of hand: a case report

Neurofibrolipoma, also called fibrolipomatous hamartoma, is a rare benign lesion which commonly involves the upper limb and its nerves with the median nerve being frequently involved. It also affects other nerves such as the ulnar, radial and brachial plexus.