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PHACE Syndrome | 5 Important Points

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PHACE Syndrome | 5 Important Points

PHACE Syndrome – Medical Condition, Symptoms, Diagnosis

In a last-ditch effort to diagnose your child, your doctor may be considering PHACE syndrome. While having this disorder does not mean that your child is unattractive or unfit for athletic activities, it leads to several symptoms and issues during childhood. Here are some swift tips to aid in recognition of this syndrome.

What is PHACE syndrome?

PHACE syndrome is a rare genetic condition that involves many abnormalities in different organ systems, including the eye, cardiovascular system, brain, bones, and skin.” The cause of PHACE syndrome is unknown, but it is most likely caused by a mutation in one of several genes. PHACE syndrome is a rare genetic condition that involves many abnormalities in different organ systems, including the eye, cardiovascular system, brain, bones, and skin.

Besides the need for high iodine levels, there is a need for certain types of omega-3s and vitamin D. Many researchers suspect that the health of a person’s skin (known as “vitamin D dependent rickets”) is connected to their level of iodine. In areas with no green plants and seaweed, it has been observed that iodine deficiency problems tend to persist.

The type of omega-3 fatty acids needed to be healthy is EPA and DHA.

How is a diagnosis of PHACE syndrome made?

A diagnosis of PHACE syndrome is made based on the presence of some or all the following symptoms:

PHACE syndrome is a group of symptoms that may indicate one or more of six conditions: 

  • polymicrogyria
  • choroid plexus papilloma
  • cortical dysplasia
  • cerebellar hypoplasia
  • Arnold-Chiari malformation. 

HACE is an acronym representing the six conditions that may result in HACE syndrome: hypoxia, altitude cerebral edema, acute mountain sickness, exertional hypoxia, esophageal dysfunction, and airway obstruction. Methods: We evaluated the role of the three-dimensional (3D) bone reconstruction in two individuals with Acromegalic Cerebral Edema. The aim was to determine the volume of resected brain tissue and identify the region that caused brain mass growth by using 3D volumetric MRI data. METHODS:

A total of 25 patients (9 men, 16 women; mean age, 46.4 years) with brain tumors who underwent surgical resection were enrolled. Intraoperative MR images of the resected tumor were reconstructed and analyzed to determine the volume and position of the tumor. Besides, 3D T1-weighted images before and after surgery were reconstructed and compared to identify the region of brain mass growth.

What are the signs and complications of PHACE syndrome?

There are a few complications in children with PHACE syndrome to look out for. In the eyes, the angle of the iris can get more narrow, and the cornea can swell. This also leads to problems with the retina, like retinal detachment. The ears may also be affected in this condition, leading to hearing loss or partial deafness. But people with X-linked severe combined immunodeficiency (X-SCID) do not make a functioning immune system because of mutations in the X-chromosome.

They cannot fight off infections and have impaired organ function, including the spleen, liver, blood cells, bone marrow, and lymph nodes. The cause of X-SCID is unknown, but researchers believe it may be caused by a virus, genetic mutation, or environmental exposure. Because there is no cure for X-SCID, patients with this disease must rely on supportive care. Patients are prescribed intravenous fluids and medicines to help maintain their body’s fluid and electrolyte balance, as well as medicines to prevent infections and manage their pain.

PHACE Syndrome | 5 Important Points

What is the treatment for PHACE syndrome?

There is no cure for PHACE syndrome, and the only treatment is to manage symptoms and wait for the onset of puberty. The treatment for PHACE syndrome is to manage symptoms and wait for the onset of puberty. If it is too early, surgery can be performed to correct eye and ear development. There is no known cure for the disease, and it is not inherited.

Whooping cough, or pertussis, is caused by bacteria transmitted by coughing and sneezing. Most cases are mild with a cough and a mild fever in infants and young children. A cough that lasts more than three weeks is called pertussis. The most severe form of the disease can be fatal if not treated early. (CDC)

“It affects males and females to an equal extent, and we are seeing more cases of girls affected than boys,” Professor Emanuele Sala, lead author of the study, told CNN. “It’s tough to forecast who will be impacted and when. “

“There are other disorders of the face and neck that mimic this condition,” Vlassov says. “The critical thing is to have a dermatologist who can look at the patient’s skin. It will give clues on whether there are other potential problems in the body. “The earlier you can find something, the better. The earlier you can make a difference in how long it’s going to be and how much it will cost. “

How common is PHACE syndrome?

There is a shortage of data on how common PHACE syndrome is, but very few reports of infants have it. The syndrome is rare, with only about 100 cases in the medical literature. This estimate comes from a review of medical articles published between 1960 and 2010 that reported the syndrome.

It is unclear how PHACE syndrome develops or why some people develop it more often than others. Some research suggests that an environmental factor, such as exposure to certain chemicals during pregnancy, may play a role. In other studies, family history or genetics are essential factors. But new research suggests that the situation may be more complicated.

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Is PHACE syndrome life-threatening?

Some people with PHACE syndrome may not know they have it until later in life, and some may not exhibit any signs at all. Because the syndrome is so complex, not everyone agrees on how dangerous it is. Different studies have produced different estimates of the risk from PHACE syndrome. On the low end, this estimate includes all cases of PHACE syndrome regardless of whether symptoms appear.

But some researchers think that the higher figure gives a more accurate picture of people likely to die from PHACE syndrome. Such patients would be more likely to live in the US and Europe, where higher standards of care could be expected to improve survival rates. In less developed countries, where PHACE syndrome is less common, lower survival rates are more likely, they believe.


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