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Simple excision is the treatment of choice, although given the large size, bleeding into the space can be a potential complication. Isolated recurrences may be seen, but there is no malignant potential.
Given the anatomic site, a spindle cell lipoma, nuchal-type fibroma and fibromatosis colli are all included in the differential diagnosis.
Cases of lymphangioma are diagnosed by histopathologic inspection. In prenatal cases, cystic lymphangioma is diagnosed using an ultrasound; when confirmed amniocentesis may be recommended to check for associated genetic disorders.
Complete surgical excision is the treatment of choice, associated with an excellent long term clinical outcome.
Several different types of magnetic resonance imaging (MRI) may be employed in diagnosis: MRI without contrast, Gd contrast enhanced T1-weighted MRI (GdT1W) or T2-weighted enhanced MRI (T2W or T2*W). Non-contrast enhanced MRI is considerably less expensive than any of the contrast enhanced MRI scans. The gold standard in diagnosis is GdT1W MRI.
The reliability of non-contrast enhanced MRI is highly dependent on the sequence of scans, and the experience of the operator.
Usually, treatment of a lipoma is not necessary, unless the tumor becomes painful or restricts movement. They are usually removed for cosmetic reasons, if they grow very large, or for histopathology to check that they are not a more dangerous type of tumor such as a liposarcoma. This last point can be important as the characteristics of a "bump" are not known until after it is removed and medically examined.
Lipomas are normally removed by simple excision. The removal can often be done under local anaesthetic, and takes less than 30 minutes. This cures the great majority of cases, with about 1–2% of lipomas recurring after excision. Liposuction is another option if the lipoma is soft and has a small connective tissue component. Liposuction typically results in less scarring; however, with large lipomas it may fail to remove the entire tumor, which can lead to regrowth.
New methods under development are supposed to remove the lipomas without scarring. One is removal by injecting compounds that trigger lipolysis, such as steroids or phosphatidylcholine.
The prognosis for lymphangioma circumscriptum and cavernous lymphangioma is generally excellent. This condition is associated with minor bleeding, recurrent cellulitis, and lymph fluid leakage. Two cases of lymphangiosarcoma arising from lymphangioma circumscriptum have been reported; however, in both of the patients, the preexisting lesion was exposed to extensive radiation therapy.
In cystic hygroma, large cysts can cause dysphagia, respiratory problems, and serious infection if they involve the neck. Patients with cystic hygroma should receive cytogenetic analysis to determine if they have chromosomal abnormalities, and parents should receive genetic counseling because this condition can recur in subsequent pregnancies.
Complications after surgical removal of cystic hygroma include damage to the structures in the neck, infection, and return of the cystic hygroma.
Adult presentation in diastematomyelia is unusual. With modern imaging techniques, various types of spinal dysraphism are being diagnosed in adults with increasing frequency. The commonest location of the lesion is at first to third lumbar vertebrae. Lumbosacral adult diastematomyelia is even rarer. Bony malformations and dysplasias are generally recognized on plain x-rays. MRI scanning is often the first choice of screening and diagnosis. MRI generally give adequate analysis of the spinal cord deformities although it has some limitations in giving detailed bone anatomy. Combined myelographic and post-myelographic CT scan is the most effective diagnostic tool in demonstrating the detailed bone, intradural and extradural pathological anatomy of the affected and adjacent spinal canal levels and of the bony spur.
Prenatal ultrasound diagnosis of this anomaly is usually possible in the early to mid third-trimester. An extra posterior echogenic focus between the fetal spinal laminae is seen with splaying of the posterior elements, thus allowing for early surgical intervention and have a favorable prognosis. Prenate ultrasound could also detect whether the diastematomyelia is isolated, with the skin intact or association with any serious neural tube defects. Progressive neurological lesions may result from the "tethering cord syndrome" (fixation of the spinal cord) by the diastematomyelia phenomenon or any of the associated disorders such as myelodysplasia, dysraphia of the spinal cord.
Before the advent of MRI, electronystagmography and Computed Tomography were employed for diagnosis of acoustic neuroma.
It is important to separate hiberoma from adult rhabdomyoma, a granular cell tumor and a true liposarcoma.
Lipomatosis is believed to be a hereditary condition in which multiple lipomas are present on the body.
Adiposis dolorosa (Dercum disease) is a rare condition involving multiple painful lipomas, swelling, and fatigue. Early studies mentioned prevalence in obese postmenopausal women. However, current literature demonstrates that Dercum disease is present in more women than men of all body types; the average age for diagnosis is 35 years.
Benign symmetric lipomatosis (Madelung disease) is another condition involving lipomatosis. It nearly always appears in middle-aged males after many years of alcoholism. But, non-alcoholics and females can also be affected.
Surgery
Surgical intervention is warranted in patients who present with new onset neurological signs and symptoms or have a history of progressive neurological manifestations which can be related to this abnormality. The surgical procedure required for the effective treatment of diastematomyelia includes decompression (surgery) of neural elements and removal of bony spur. This may be accomplished with or without resection and repair of the duplicated dural sacs. Resection and repair of the duplicated dural sacs is preferred since the dural abnormality may partly contribute to the "tethering" process responsible for the symptoms of this condition.
Post-myelographic CT scanning provides individualized detailed maps that enable surgical treatment of cervical diastematomyelia, first performed in 1983.
Observation
Asymptomatic patients do not require surgical treatment. These patients should have regular neurological examinations since it is known that the condition can deteriorate. If any progression is identified, then a resection should be performed.
Scoliosis is defined as a three-dimensional deviation in the axis of a person's spine In the diagnostic sense, it is defined as a spinal curvature of more than 10 degrees to the right or left as the examiner faces the person, i.e. in the coronal plane. Deformity may also exist to the front or back as the examiner looks at the person from the side, i.e. in the sagittal plane.
Scoliosis has been described as a biomechanical deformity, the progression of which depends on asymmetric forces otherwise known as the Heuter-Volkmann law.
People who initially present with scoliosis are examined to determine whether the deformity has an underlying cause. During a physical examination, the following are assessed to exclude the possibility of underlying condition more serious than simple scoliosis.
The person's gait is assessed, and there is an exam for signs of other abnormalities (e.g., spina bifida as evidenced by a dimple, hairy patch, lipoma, or hemangioma). A thorough neurological examination is also performed, the skin for "café au lait" spots, indicative of neurofibromatosis, the feet for cavovarus deformity, abdominal reflexes and muscle tone for spasticity.
When a person can cooperate, he or she is asked to bend forward as far as possible. This is known as the Adams Forward Bend Test and is often performed on school students. If a prominence is noted, then scoliosis is a possibility and an X-ray may be done to confirm the diagnosis.
As an alternative, a scoliometer may be used to diagnose the condition.
When scoliosis is suspected, weight-bearing full-spine AP/coronal (front-back view) and lateral/sagittal (side view) X-rays are usually taken to assess the scoliosis curves and the kyphosis and lordosis, as these can also be affected in individuals with scoliosis. Full-length standing spine X-rays are the standard method for evaluating the severity and progression of the scoliosis, and whether it is congenital or idiopathic in nature. In growing individuals, serial radiographs are obtained at three- to 12-month intervals to follow curve progression, and, in some instances, MRI investigation is warranted to look at the spinal cord.
The standard method for assessing the curvature quantitatively is measuring the Cobb angle, which is the angle between two lines, drawn perpendicular to the upper endplate of the uppermost vertebra involved and the lower endplate of the lowest vertebra involved. For people with two curves, Cobb angles are followed for both curves. In some people, lateral-bending X-rays are obtained to assess the flexibility of the curves or the primary and compensatory curves.
Congenital and idiopathic scoliosis that develops before the age of 10 is referred to as early onset scoliosis (EOS). Scoliosis that develops after 10 is referred to as adolescent idiopathic scoliosis.
Genetic testing for AIS, which became available in 2009 and is still under investigation, attempts to gauge the likelihood of curve progression.
Definitive diagnosis of humerus fractures is typically made through radiographic imaging. For proximal fractures, X-rays can be taken from a scapular anteroposterior (AP) view, which takes an image of the front of the shoulder region from an angle, a scapular Y view, which takes an image of the back of the shoulder region from an angle, and an axillar lateral view, which has the patient lie on his or her back, lift the bottom half of the arm up to the side, and have an image taken of the axilla region underneath the shoulder. Fractures of the humerus shaft are usually correctly identified with radiographic images taken from the AP and lateral viewpoints. Damage to the radial nerve from a shaft fracture can be identified by an inability to bend the hand backwards or by decreased sensation in the back of the hand. Images of the distal region are often of poor quality due to the patient being unable to extend the elbow because of pain. If a severe distal fracture is supected, then a computed tomography (CT) scan can provide greater detail of the fracture. Nondisplaced distal fractures may not be directly visible; they may only be visible due to fat being displaced because of internal bleeding in the elbow.
The diagnosis is based on examination under a microscope, by a pathologist. Radiologic findings may be suggestive, as these tumors are well-circumscribed and devoid of calcifications.
An adipose tissue neoplasm is a neoplasm derived from adipose tissue.
An example is lipoma.
Fractures of the humerus are classified based on the location of the fracture and then by the type of fracture. There are three locations that humerus fractures occur: at the proximal location, which is the top of the humerus near the shoulder, in the middle, which is at the shaft of the humerus, and the distal location, which is the bottom of the humerus near the elbow. Proximal fractures are classified into one of four types of fractures based on the displacement of the greater tubercle, the lesser tubercle, the surgical neck, and the anatomical neck, which are the four parts of the proximal humerus, with fracture displacement being defined as at least one centimeter of separation or an angulation greater than 45 degrees. One-part fractures involve no displacement of any parts of the humerus, two-part fractures have one part displaced relative to the other three; three-part fractures have two displaced fragments, and four-part fractures have all fragments displaced from each other. Fractures of the humerus shaft are subdivided into transverse fractures, spiral fractures, "butterfly" fractures, which are a combination of transverse and spiral fractures, and pathological fractures, which are fractures caused by medical conditions. Distal fractures are split between supracondylar fractures, which are transverse fractures above the two condyles at the bottom of the humerus, and intercondylar fractures, which involve a T- or Y-shaped fracture that splits the condyles.
For children younger than eight weeks of age (and possibly in utero), a tethered cord may be observed using ultrasonography. Ultrasonography may still be useful through age 5 in limited circumstances.
MRI imaging appears to be the gold standard for diagnosing a tethered cord.
A tethered cord is often diagnosed as a "low conus." The conus medullaris (or lower termination of the spinal cord) normally terminates at or above the L1-2 disk space (where L1 is the first, or topmost lumbar vertebra). After about 3 months of age, a conus below the L1-2 disk space may indicate a tethered cord and termination below L3-4 is unmistakably tethered. "Cord tethering is often assumed when the conus is below the normal L2-3 level.
TCS, however, is a clinical diagnosis that should be based on "neurological and musculoskeletal signs and symptoms. Imaging features are in general obtained to support rather than make the diagnosis." Clinical evaluation may include a simple rectal examination and may also include invasive or non-invasive urological examination. "Bladder dysfunction occurs in ~40% of patients affected by tethered cord syndrome. ... [I]t may be the earliest sign of the syndrome."
Differential diagnosis of this condition includes the Birt-Hogg-Dubé syndrome and tuberous sclerosis. As the skin lesions are typically painful, it is also often necessary to exclude other painful tumors of the skin (including blue rubber bleb nevus, leiomyoma, eccrine spiradenoma, neuroma, dermatofibroma, angiolipoma, neurilemmoma, endometrioma, glomus tumor and granular cell tumor; the mnemonic "BLEND-AN-EGG" may be helpful). Other skin lesions that may need to be considered include cylindroma, lipoma, poroma and trichoepithelioma; these tend to be painless and have other useful distinguishing features.
The skin lesions may be difficult to diagnose clinically but a punch biopsy will usually reveal a Grenz zone separating the tumour from the overlying skin. Histological examination shows dense dermal nodules composed of elongated cells with abundant eosinophilic cytoplasm arranged in fascicles (spindle cells). The nuclei are uniform, blunt-ended and cigar-shaped with only occasional mitoses. Special stains that may be of use in the diagnosis include Masson's trichrome, Van Gieson's stain and phosphotungstic acid–haematoxylin.
The renal cell carcinomas have prominent eosinophilic nucleoli surrounded by a clear halo.
The intradural anatomic features of the filum terminale in fresh human cadavers was evaluated, which helped to analyze the morphological parameters relevant for diagnosing tethered spinal cord syndrome. The research was conducted by the scientists by dissecting 41 cadavers and then evaluated the height, weight, age, FT length, FT diameter at midpoint and initial point, and the topographic relationships of the initial fusion points adjacent to the vertebrae. This anatomic study concluded that there was a large variation in the parameters of the filum terminale and that 6 out of the 41 cadavers met the criteria for tethered spinal cord syndrome.
Angiolipoma is a subcutaneous nodule with vascular structure, having all other features of a typical lipoma. They are commonly painful.
Myofibroblastoma of the breast, first described by Wargotz et al. {Am J Surg Pathol. 1987 Jul;11(7):493-502} consist of bland spindle cells arranged in fascicles with interspersed thick bundles of collagen. They typically stain with CD34 and desmin.
In extra-mammary sites the tumour is known as a "mammary-type myofibroblastoma", and may immunohistochemically and histomorphologically overlap with spindle cell lipoma.
Spindle cell lipoma is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men.