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Skeletal Radiology Oct 2017Ossifying subperiosteal haematoma is an exceedingly rare manifestation of Neurofibromatosis type 1 (NF-1). We report an interesting case of plexiform neurofibroma...
Ossifying subperiosteal haematoma is an exceedingly rare manifestation of Neurofibromatosis type 1 (NF-1). We report an interesting case of plexiform neurofibroma causing a rapidly growing tibial mass as a result of subperiosteal haemorrhage, in an 11-year-old girl with previously undiagnosed NF-1. This reflects a precursor of the more mature periosteal ossification seen in cases traditionally termed "subperiosteal cysts". A previously well young girl was referred by her general practitioner with an increasingly large, mildly tender, soft lump on the anterior aspect of her right tibia. Plain radiographs demonstrated soft tissue thickening overlying the anterior tibia, without appreciable periosteal ossification. Magnetic resonance imaging (MRI) illustrated a single central fluid-fluid level and periosteal elevation with saucerisation of the anterior tibial cortex and mild surrounding oedema. Histopathology revealed a large plexiform neurofibroma. Interestingly, this was associated with haemorrhagic change and a peripheral rim of florid reactive new bone formation. This unusual presentation was discussed at a multidisciplinary bone and soft tissue tumour meeting, where in combination with the clinical history of café au lait spots and positive family history, a consensus diagnosis of NF-1 was made. To date, there have only been limited case reports of this rare pathological process. In summary, this case report accounts an acute presentation of this rare osseous manifestation of NF-1, being the first to clearly demonstrate a timeline of subperiosteal haematoma with subsequent subperiosteal bone proliferation. The clinical reasoning and radiological features for such a presentation are also described.
Topics: Acute Disease; Bone Neoplasms; Child; Diagnosis, Differential; Female; Hematoma; Humans; Magnetic Resonance Imaging; Neurofibroma, Plexiform; Neurofibromatosis 1; Ossification, Heterotopic; Periosteum; Tibia
PubMed: 28623408
DOI: 10.1007/s00256-017-2689-3 -
International Journal of Molecular... 2012To bring insights into neurofibroma biochemistry, a comprehensive secretome analysis was performed on cultured human primary Schwann cells isolated from surgically...
To bring insights into neurofibroma biochemistry, a comprehensive secretome analysis was performed on cultured human primary Schwann cells isolated from surgically resected plexiform neurofibroma and from normal nerve tissue. Using a combination of SDS-PAGE and high precision LC-MS/MS, 907 proteins were confidently identified in the conditioned media of Schwann cell cultures combined. Label free proteome profiling revealed consistent release of high levels of 22 proteins by the four biological replicates of NF1 Schwann cell cultures relative to the two normal Schwann cell cultures. Inversely, 9 proteins displayed decreased levels in the conditioned media of NF1 relative to normal Schwann cells. The proteins with increased levels included proteins involved in cell growth, angiogenesis and complement pathway while proteins with decreased levels included those involved in cell adhesion, plasminogen pathway and extracellular matrix remodeling. Retinoic acid receptor responder protein-1 (RARRES1), previously described as an integral membrane tumor suppressor, was found exclusively secreted by NF1 Schwann cells but not by normal Schwann cells. All-trans retinoic acid modulated secretion of RARRES1 in a dose dependent manner. This study shows altered secretion of key proteins in NF1 derived Schwann cells. The potential implication of these proteins in neurofibroma biology is discussed.
Topics: Antineoplastic Agents; Cell Line, Tumor; Dose-Response Relationship, Drug; Humans; Membrane Proteins; Neoplasm Proteins; Neurofibroma, Plexiform; Schwann Cells; Tretinoin
PubMed: 22942771
DOI: 10.3390/ijms13079380 -
American Journal of Otolaryngology 2008Laryngeal neurofibromas are rare. The plexiform subtype is less common and often presents during childhood in association with neurofibromatosis type I. Because it is...
Laryngeal neurofibromas are rare. The plexiform subtype is less common and often presents during childhood in association with neurofibromatosis type I. Because it is unencapsulated and more aggressive, plexiform neurofibroma presents a management dilemma. Imaging, particularly magnetic resonance imaging, can aid in diagnosing neurofibroma, differentiating the nonplexiform and plexiform subtypes, and planning the subsequent operative approach. The importance of conservative surgery to relieve symptoms, but preserve laryngopharyngeal function, and close follow-up are stressed. We report 2 adult cases of plexiform neurofibroma involving the larynx and hypopharynx and discuss the controversies in management.
Topics: Adult; Diagnosis, Differential; Female; Humans; Hypopharyngeal Neoplasms; Laryngeal Neoplasms; Neurofibroma, Plexiform
PubMed: 18598841
DOI: 10.1016/j.amjoto.2006.06.021 -
Skinmed 2023A 13-year-old Hispanic boy with no significant medical etymology presented with a chief complaint of widespread brown macules and patches. He had a large and evenly...
A 13-year-old Hispanic boy with no significant medical etymology presented with a chief complaint of widespread brown macules and patches. He had a large and evenly pigmented brown patch, with a centrally located 2.2 cm × 1.2 cm soft and darkly pigmented plaque, which became more apparent with tension applied to the surrounding skin (Figure 1). The patient's mother stated that the plaque was present since birth and had increased in size over time. The clinical differential diagnoses included a congenital melanocytic nevus (CMN), a large café au lait macule (CALM), and a Becker's nevus with a congenital smooth muscle hamartoma.
Topics: Male; Humans; Adolescent; Neurofibroma, Plexiform; Skin; Hamartoma; Cafe-au-Lait Spots; Nevus, Pigmented
PubMed: 37634103
DOI: No ID Found -
Pediatrics International : Official... Jul 2020
Topics: Antineoplastic Agents; Child; Everolimus; Female; Humans; Magnetic Resonance Imaging; Neurofibroma, Plexiform; Neurofibromatosis 1; TOR Serine-Threonine Kinases; Treatment Outcome
PubMed: 32027426
DOI: 10.1111/ped.14183 -
The Pan African Medical Journal 2023
Topics: Humans; Neurofibromatoses; Face; Neurofibroma, Plexiform; Neurofibromatosis 1
PubMed: 37013203
DOI: 10.11604/pamj.2023.44.25.37895 -
Neurology India 2017
Topics: Back Pain; Female; Humans; Lipoma; Longitudinal Studies; Lower Extremity; Magnetic Resonance Imaging; Nerve Sheath Neoplasms; Neurofibroma, Plexiform; Young Adult
PubMed: 28681789
DOI: 10.4103/neuroindia.NI_1025_16 -
Journal of Neurosurgery Jul 1999Plexiform neurofibroma of the cauda equina has been reported only twice previously. The authors report the first pediatric patient in whom such a tumor has been found. A...
Plexiform neurofibroma of the cauda equina has been reported only twice previously. The authors report the first pediatric patient in whom such a tumor has been found. A 4-year-old boy presented with low-back pain that radiated bilaterally into the L-4 and L-5 dermatomes. A dermal sinus noted at the midthoracic level was surrounded by a hemangiomatous lesion. Magnetic resonance imaging confirmed the presence of the dermal sinus and revealed a well-defined lumbosacral mass that showed heterogeneous intensity with irregular enhancement. Intraoperatively, a solid mass, which engulfed the entire cauda equina, could not be dissected from the roots. The dermal sinus tract, however, was excised from the thoracic spine. The patient underwent radiotherapy to control the tumor and relieve his pain. Plexiform neurofibromas of the cauda equina are characterized by an insidious and progressive clinical course. The tumor mass may engulf all the roots of the cauda equina. No plexiform neurofibroma of the cauda equina has been reported to be associated with neurofibromatosis Type 1. The authors assume that the thoracic-level dermal sinus observed in this child was an incidental finding.
Topics: Cauda Equina; Child, Preschool; Humans; Laminectomy; Magnetic Resonance Imaging; Male; Neurofibroma, Plexiform; Peripheral Nervous System Neoplasms; Spina Bifida Occulta
PubMed: 10419355
DOI: 10.3171/spi.1999.91.1.0112 -
Journal of Cutaneous Pathology Nov 2015Glandular structures are well documented to appear in peripheral nerve sheath tumors. These epithelial elements are usually present in malignant peripheral nerve sheath...
Glandular structures are well documented to appear in peripheral nerve sheath tumors. These epithelial elements are usually present in malignant peripheral nerve sheath tumors although a few cases of glandular benign peripheral nerve sheath tumors have also been described, most of them being schwannomas. A neurofibroma with glands is considered to be a rare type of divergent differentiation, but a neurofibroma containing gland-like or pseudoglandular structures have not, to our knowledge, been described. We report a 33-year-old patient with a well-demarcated dermal neoplasm, composed of neoplastic Schwann cells, perineurial-like cells and fibroblasts in a matrix with collagen fibers and myxoid areas. A part of the tumor consisted of microcystic gland-like spaces lined by flat cells. These cells were either S100 positive or negative, with no epithelial membrane antigen, cytokeratin or CD31 immunostaining. Recognition of the presence of pseudoglandular elements in neurofibromas is important to distinguish them from other tumoral lesions, some of them with malignant potential.
Topics: Adult; Diagnosis, Differential; Female; Humans; Neoplasms, Glandular and Epithelial; Neurilemmoma; Neurofibroma, Plexiform
PubMed: 26269328
DOI: 10.1111/cup.12572 -
Digestive and Liver Disease : Official... Jul 2008
Topics: Angiogenesis Inhibitors; Child; Diagnosis, Differential; Female; Humans; Ileal Neoplasms; Mesentery; Neoplasms, Multiple Primary; Neurofibroma, Plexiform; Peritoneal Neoplasms; Sensitivity and Specificity; Thalidomide; Treatment Outcome
PubMed: 18294937
DOI: 10.1016/j.dld.2007.12.013