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Complete surgical excision is the treatment of choice, associated with an excellent long term clinical outcome.
Given the anatomic site, a spindle cell lipoma, nuchal-type fibroma and fibromatosis colli are all included in the differential diagnosis.
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.
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.
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.
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.
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.
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.
The auditory brainstem response (ABR) test gives information about the inner ear (cochlea) and nerve pathways for hearing via ongoing electrical activity in the brain measured by electrodes placed on the scalp. Five different waves (I to V) are measured for each ear. Each waveform represents specific anatomical points along the auditory neural pathway. Delays of one side relative to the other suggest a lesion in cranial nerve VIII between the ear and brainstem or in the brainstem itself. The most reliable indicator for acoustic neuromas from the ABR is the interaural latency differences in wave V: the latency in the impaired ear is prolonged. Different studies have indicated the sensitivity of ABR for detection of acoustic neuromas 1cm or larger to be between 90 and 95%. Sensitivity for neuromas smaller than 1cm are 63-77%. A newer technology, stacked ABR, may have sensitivity as high as 95% with specificity 88% for smaller tumors. ABR is considerably more cost effective, but MRI provides more information.
Stapedius reflex (SR) and caloric vestibular response (CVR) are non-invasive otologic tests for auditory neural function. These are not primary diagnostics for CPA neuromas, and are usually used in conjunction
with ABR.
An adipose tissue neoplasm is a neoplasm derived from adipose tissue.
An example is lipoma.
A clinical diagnosis of SCS can be verified by testing the TWIST1 gene (only gene in which mutations are known to cause SCS) for mutations using DNA analysis, such as sequence analysis, deletion/duplication analysis, and cytogenetics/ FISH analysis. Sequence analysis of exon 1 (TWIST1 coding region) provides a good method for detecting the frequency of mutations in the TWIST1 gene. These mutations include nonsense, missense, splice site mutation, and intragenic deletions/insertions. Deletion/duplication analysis identifies mutations in the TWIST1 gene that are not readily detected by sequence analysis. Common methods include PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA). Cytogenetic/FISH analysis attaches fluorescently labels DNA markers to a denatured chromosome and is then examined under fluorescent lighting, which reveals mutations caused by translocations or inversions involving 7p21. Occasionally, individuals with SCS have a chromosome translocation, inversion, or ring chromosome 7 involving 7p21 resulting in atypical findings, such as, increased developmental delay. Individuals with SCS, typically have normal brain functioning and rarely have mental impairments. For this reason, if an individual has both SCS and mental retardation, then they should have their TWIST1 gene screened more carefully because this is not a normal trait of SCS. Cytogenetic testing and direct gene testing can also be used to study gene/chromosome defects. Cytogenetic testing is the study of chromosomes to detect gains or losses of chromosomes or chromosome segments using fluorescent in situ hybridization (FISH) and/or comparative genomic hybridization (CGH). Direct gene testing uses blood, hair, skin, amniotic fluid, or other tissues in order to find genetic disorders. Direct gene testing can determine whether an individual has SCS by testing the individual's blood for mutations in the TWIST1 gene.
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.
Angiolipoma is a subcutaneous nodule with vascular structure, having all other features of a typical lipoma. They are commonly painful.
The overall diagnosis of SCS is primarily based on clinical findings and observations based on dysmorphology examination (assessing structural defects) and radiographic evaluation (X-rays, MRIs, and CT scans).
The clinical diagnosis of SCS is generally based on the presence of the following characteristics:
- Craniosynostosis
- Most commonly results from the premature fusion of the coronal suture, although any of the other sutures could result in this too.
- Craniosynostosis is typically accompanied by an odd skull shape (e.g., brachycephaly [short & broad] and acrocephaly [cone-shaped]).
- When determining whether an individual has SCS, a doctor will examine the patient's skull and will be able to tell if premature fusion has occurred based on the skull shape.
- Low-set hairline, facial asymmetry, ptosis (drooping eyelids), and strabismus (crossed/lazy eyes)
- Small ears with pronounced, bulging pinna
- Limb abnormalities including bunions (hallux valgus), short, partially webbed fingers, triangular-shaped epiphysis of the hallux (big toe), and duplicated distal phalanx of the hallux
The treatment of soft tissue parts of midface anomalies is often a reconstruction from a skin flap of the cheek. This skinflap can be used for other operations in the further, as it can be raised again and transposed again. In the treatment of midface anomalies there are generally more operations needed. Bone tissue reconstruction of the midface often occurs later than the soft tissue reconstruction. The most common method to reconstruct the midface is by using the fracture/ incision lines described by René Le Fort. When the cleft involves the maxilla, it is likely that the impaired growth will result in a smaller maxillary bone in all 3 dimensions (height, projection, width).
Diagnosis can be made solely on the basis of history and physical examination in people who present with only facial asymmetry. For those who report neurological symptoms such as migraine or seizures, MRI scan of the brain is the imaging modality of choice. A diagnostic lumbar puncture and serum test for autoantibodies may also be indicated in people who present with a seizure disorder of recent onset.
Lipoblastoma is a type of subcutaneous benign fatty tumor.
Types include:
- Benign lipoblastomatosis, a tumor, also known as an embryonic lipoma, which usually occurs in children under three years old. This is the tumor of brown fat cells.
- Myxoid lipoblastoma, a cutaneous condition characterized by excess mucin
Benign lipoblastomatosis (also known as an "embryonic lipoma") is a tumor frequently confused with a liposarcoma, affecting exclusively infants and young children, with approximately 90% occurring before 3 years of age.
Figueroa and Pruzanksky classified HFM patients into three different types:
- Type I : Mild hypoplasia of the ramus , and the body of the mandible is slightly affected.
- Type II : The condyle and ramus are small, the head of the condyle is flattened , the glenoid fossa is absent , the condyle is hinged on a flat, often convex, infratemporal surface , the coronoid may be absent.
- Type III: The ramus is reduced to a thin lamina of bone or is completely absent. There is no evidence of a TMJ.
The nose anomalies found in facial clefts vary. The main goal of the treatment is to reconstruct the nose to get a functional and esthetic acceptable result. A few possible treatment options are to reconstruct the nose with a forehead flap or reconstruct the nasal dorsum with a bone graft, for example a rib graft. The nasal reconstruction with a forehead flap is based on the repositioning of a skin flap from the forehead to the nose. A possible downside of this reconstruction is that once you performed it at a younger age, you can’t lengthen the flap at a later stage. A second operation is often needed if the operation is done on early age, because the nose has a restricted growth in the cleft area. Repair of the ala (wing of the nose) often requires the inset of cartilage graft, commonly taken from the ear.
A Q-switched laser has been successfully used to treat the condition.
Some benign tumors need no treatment; others may be removed if they cause problems such as seizures, discomfort or cosmetic concerns. Surgery is usually the most effective approach and is used to treat most benign tumors. In some case other treatments may be of use. Adenomas of the rectum may be treated with sclerotherapy, a treatment in which chemicals are used to shrink blood vessels in order to cut off the blood supply. Most benign tumors do not respond to chemotherapy or radiation therapy, although there are exceptions; benign intercranial tumors are sometimes treated with radiation therapy and chemotherapy under certain circumstances. Radiation can also be used to treat hemangiomas in the rectum. Benign skin tumors are usually surgically resected but other treatments such as cryotherapy, curettage, electrodesiccation, laser therapy, dermabrasion, chemical peels and topical medication are used.
Nasal fractures are usually identified visually and through physical examination. Medical imaging is generally not recommended. A priority is to distinguish simple fractures limited to the nasal bones (Type 1) from fractures that also involve other facial bones and/or the nasal septum (Types 2 and 3). In simple Type 1 fractures X-Rays supply surprisingly little information beyond clinical examination. However, diagnosis may be confirmed with X-rays or CT scans, and these are required if other facial injuries are suspected.
A fracture that runs horizontally across the septum is sometimes called a "Jarjavay fracture", and a vertical one, a "Chevallet fracture".
Although treatment of an uncomplicated fracture of nasal bones is not urgent—a referral for specific treatment in five to seven days usually suffices—an associated injury, nasal septal hematoma, occurs in about 5% of cases and does require urgent treatment and should be looked for during the assessment of nasal injuries.