If immediate surgery is not needed then further testing will be done to determine whether the patient has either macrocephaly or benign macrocephaly. Diagnosis for macrocephaly involves the comparison of the infants head circumference to that of other infants of the same age and ethnicity. If a patient is suspected of having macrocephaly molecular testing will be used to confirm diagnosis. Symptoms vary on the cause of macrocephaly on the child and if the child has any other accompanying syndromes which will be determined through molecular testing. Benign or familial macrocephaly
Benign macrocephaly can occur without reason or be inherited by one or both parents (in which it is considered benign familial macrocephaly and is considered megalencephaly form of macrocephaly). Diagnoses for familial macrocephaly is determined by measuring the head circumference of both parents and comparing it to the childs. Benign and familial macrocephaly is not associated with neurological disorders. While benign and familial macrocephaly does not result in neurological disorders, neurodevelopment will still be assessed. Although neurological disorders do not occur, temporary symptoms of benign and familial macrocephaly include: developmental delay, epilepsy, and mild hypotonia.Neurodevelopment is assessed for all cases and suspected cases of macrocephaly to determine whether and what treatments may be needed, and whether any other syndrome/s may be present or likely to develop. Treatment
Treatment varies depending on whether or not it occurs with other medical conditions in the child and where cerebrospinal fluid is present. If benign and found between the brain and skull then no surgery is needed.
Angiomyxoma is a myxoid tumor involving the blood vessels. It can affect the vulva and other parts of the pelvis. The characteristic feature of this tumor is its frequent local recurrence and it is currently regarded as a non-metastasizing benign tumor. Genetics
HMGA2 rearrangement
by translocation t(12;21)(q15;q21.1)
by translocation t(11;12)(q23;q15)
by translocation t(8;12)(p12;q15)
t(5;8)(p15;q22)

Pathology
Microscopy
Vascular appearance of tumor
Hypocellular mesenchymal lesion
Spindled and stellate cells with an ill-defined cytoplasm
Cells loosely scattered in a myxoid stroma
No evidence of nuclear atypia and mitosis
Numerous, thin-to-thick wall vessels of different sizes
Myxoid, hypocellular background
Bland cytological appearance of spindle cells

Microscopical views
Immunochemistry
Immunohistochemical studies show strong staining for desmin, estrogen receptors, and progesterone receptors. Staining for actin, CD34 and smooth muscle actin are  intermediate. Staining for S-100 protein is negative. Diagnosis
Differential diagnosis
Myxoid tumors
Angiomyofibroblastoma

Treatment
Prognosis
Although it is a benign tumour and does not invade neighbouring tissues, it has a tendency to recur after surgical excision so it is termed  "aggressive". Recurrence can occur as early as six months from initial resection. Patients frequently present at tertiary medical centers with a history of labial mass (sometimes misdiagnosed as Gartners cyst), with multiple surgical excisions from several surgeons. There is no standard medical therapy; agents reported to be effective in case reports include systemic hormonal therapy with SERMs such as tamoxifen or LHRH agonists (leuprolide), and cytotoxic ("traditional") chemotherapy, as well as radiation therapy especially for recurrent disease. History
Aggressive angiomyxoma was originally described in 1983, but the term "angiomyxoma" dates back to at least 1952. See also
Myxoma
Cutaneous myxoma (Superficial angiomyxoma)

References


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