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PHACE Syndrome

Updated : January 3, 2024





Background

The most common benign tumor in childhood is the infantile hemangioma. The incidence is believed to be around 4% – 5%. PHACES syndrome (PS), an abbreviation for posterior fossa malformations, cervicofacial hemangioma, arterial abnormalities, heart anomalies, ocular anomalies, & sternal and abdominal clefting, and ectopia cordis is associated with large facial segmentation hemangioma.

Frieden & colleagues termed it PHACE syndrome when they initially identified it in 1996. Boulinguez & colleagues then altered the abbreviation to PHACES syndrome by including sternal abnormalities. PS is an uncommon infantile cervicofacial hemangioma. That happens in 2% of the cases.

It is a neurocutaneous condition with a segmental pattern typically involving the neck, face, & scalp as single or multiple lesions. Dermatological, cardiovascular, neurological, & ophthalmic symptoms are all part of this rare congenital disorder. Cerebrovascular, structural brain, & cardiovascular impairments are the most common extracutaneous symptoms.

Epidemiology

PS is more common in Caucasian & Hispanic people. With a female-male ratio of 9 to 1, there is a female preponderance. Around 20 percent of children with facial hemangioma will acquire one of the PS defects. Extracutaneous defects become more likely as the hemangioma grows in size and includes many face parts.

Anatomy

Pathophysiology

PHACE syndrome has a distinct physiopathology from solitary hemangioma. It is not thoroughly understood and shows no evidence of a familial inheritance pattern. PS’s ipsilateral deformity shows a problem with embryonic and fetal development.

Moreover, vascular anomalies may be caused by localized arterial insufficiency & rupture of the usual arterial wall, resulting in changes in blood flow & hypoxia. As a result of these changes, hemangioma & deformities in brain structures emerge.

Etiology

PHACE syndrome is a disorder that does not run in families. The cause needs to be better understood. Most occurrences are sporadic; however, there is speculation that it may be due to a change in the X-related genes, given the female majority and prenatal male lethality.

It corresponds to a variety of genetic & phenotypic abnormalities. Some experts speculate that a developmental mistake occurred around 6- & 8-weeks during pregnancy, prior to or while undergoing vasculogenesis.

Genetics

Prognostic Factors

The prognosis varies. It is determined by the accompanying manifestations. Cognitive and neurological deficits are quite widespread, and they are the leading cause of morbidity.

Clinical History

Clinical history

The clinical history of infantile hemangioma typically includes the following:

  • Age of onset: Infantile hemangiomas usually develop within the first few weeks of life, although they may not become apparent until later. The age of onset can provide important information for diagnosis and treatment planning.
  • Appearance: Infantile hemangiomas typically appear as raised, red or pinkish lesions on the skin, although the appearance can vary depending on the location and size of the lesion. The lesion may be smooth or have a rough or bumpy texture, and it may be flat or raised.
  • Location: Infantile hemangiomas can occur anywhere on the body, but they are most commonly found on the face, neck, and trunk. The location of the lesion can impact the potential for complications, such as vision or breathing problems if the lesion is located near the eyes, nose, or mouth.
  • Growth pattern: Infantile hemangiomas typically grow rapidly during the first several months of life, followed by a period of slow growth and eventual regression. The growth pattern can be monitored to evaluate the need for treatment and to track the response to treatment.
  • Associated symptoms: Depending on the location and size of the lesion, infantile hemangiomas can cause a range of symptoms, including pain, bleeding, ulceration, or functional impairment (such as difficulty breathing or feeding). The presence of associated symptoms can impact the decision to treat the lesion and the choice of treatment modality.

A thorough clinical history, along with a physical exam and imaging studies if needed, can help to diagnose and manage infantile hemangiomas effectively. Treatment options may include observation, medication, or surgical intervention, depending on the location and severity of the lesion.

Physical Examination

Physical examination

A physical examination of infantile hemangioma typically includes the following:

  • Inspection of the lesion: The lesion will be examined for its size, shape, location, color, texture, and associated symptoms (such as bleeding or ulceration). The appearance of the lesion can provide important information for diagnosis and treatment planning.
  • Palpation of the lesion: The lesion may be palpated to assess its consistency, depth, and vascularity. This can help to determine the extent of the lesion and the potential for complications.
  • Assessment of vital signs: The patient’s vital signs, including heart rate, blood pressure, and oxygen saturation, may be monitored to assess for any signs of compromise to vital functions.
  • Examination of nearby structures: Depending on the location of the lesion, nearby structures such as the eyes, nose, or mouth may be examined for any signs of involvement or functional impairment.
  • Imaging studies: In some cases, imaging studies such as ultrasound, MRI, or CT scans may be ordered to evaluate the extent and location of the lesion and to identify any potential complications.

A comprehensive physical examination, along with a thorough clinical history and any necessary imaging studies, can help to diagnose and manage infantile hemangiomas effectively. Treatment options may include observation, medication, or surgical intervention, depending on the location and severity of the lesion.

Age group

Associated comorbidity

Associated activity

Acuity of presentation

Differential Diagnoses

Differential diagnosis

  • LUMBAR condition
  • Wyburn-Mason condition
  • Visceral hemangiomas
  • Infantile hemangiomas
  • Sturge-Weber condition

Laboratory Studies

Imaging Studies

Procedures

Histologic Findings

Staging

Treatment Paradigm

Management must be multidisciplinary. For affected youngsters, there is no established therapy protocol. The treatment is tailored to the individual symptoms of each patient. Depending on various extracutaneous symptoms, individuals with PS may require the care of cardiologists & neurologists.

Because of the danger of stroke in people with cardiac and blood vessel disorders, hemangioma is usually successfully treated with oral propranolol. Hemangioma treatment may also include surgery, systemic steroids, and laser treatment. Aspirin therapy is widely suggested to avoid ischemic incidents. Cardiovascular problems may necessitate immediate surgical treatment.

by Stage

by Modality

Chemotherapy

Radiation Therapy

Surgical Interventions

Hormone Therapy

Immunotherapy

Hyperthermia

Photodynamic Therapy

Stem Cell Transplant

Targeted Therapy

Palliative Care

Medication

Media Gallary

References

https://www.ncbi.nlm.nih.gov/books/NBK539722/

PHACE Syndrome

Updated : January 3, 2024




The most common benign tumor in childhood is the infantile hemangioma. The incidence is believed to be around 4% – 5%. PHACES syndrome (PS), an abbreviation for posterior fossa malformations, cervicofacial hemangioma, arterial abnormalities, heart anomalies, ocular anomalies, & sternal and abdominal clefting, and ectopia cordis is associated with large facial segmentation hemangioma.

Frieden & colleagues termed it PHACE syndrome when they initially identified it in 1996. Boulinguez & colleagues then altered the abbreviation to PHACES syndrome by including sternal abnormalities. PS is an uncommon infantile cervicofacial hemangioma. That happens in 2% of the cases.

It is a neurocutaneous condition with a segmental pattern typically involving the neck, face, & scalp as single or multiple lesions. Dermatological, cardiovascular, neurological, & ophthalmic symptoms are all part of this rare congenital disorder. Cerebrovascular, structural brain, & cardiovascular impairments are the most common extracutaneous symptoms.

PS is more common in Caucasian & Hispanic people. With a female-male ratio of 9 to 1, there is a female preponderance. Around 20 percent of children with facial hemangioma will acquire one of the PS defects. Extracutaneous defects become more likely as the hemangioma grows in size and includes many face parts.

PHACE syndrome has a distinct physiopathology from solitary hemangioma. It is not thoroughly understood and shows no evidence of a familial inheritance pattern. PS’s ipsilateral deformity shows a problem with embryonic and fetal development.

Moreover, vascular anomalies may be caused by localized arterial insufficiency & rupture of the usual arterial wall, resulting in changes in blood flow & hypoxia. As a result of these changes, hemangioma & deformities in brain structures emerge.

PHACE syndrome is a disorder that does not run in families. The cause needs to be better understood. Most occurrences are sporadic; however, there is speculation that it may be due to a change in the X-related genes, given the female majority and prenatal male lethality.

It corresponds to a variety of genetic & phenotypic abnormalities. Some experts speculate that a developmental mistake occurred around 6- & 8-weeks during pregnancy, prior to or while undergoing vasculogenesis.

The prognosis varies. It is determined by the accompanying manifestations. Cognitive and neurological deficits are quite widespread, and they are the leading cause of morbidity.

Clinical history

The clinical history of infantile hemangioma typically includes the following:

  • Age of onset: Infantile hemangiomas usually develop within the first few weeks of life, although they may not become apparent until later. The age of onset can provide important information for diagnosis and treatment planning.
  • Appearance: Infantile hemangiomas typically appear as raised, red or pinkish lesions on the skin, although the appearance can vary depending on the location and size of the lesion. The lesion may be smooth or have a rough or bumpy texture, and it may be flat or raised.
  • Location: Infantile hemangiomas can occur anywhere on the body, but they are most commonly found on the face, neck, and trunk. The location of the lesion can impact the potential for complications, such as vision or breathing problems if the lesion is located near the eyes, nose, or mouth.
  • Growth pattern: Infantile hemangiomas typically grow rapidly during the first several months of life, followed by a period of slow growth and eventual regression. The growth pattern can be monitored to evaluate the need for treatment and to track the response to treatment.
  • Associated symptoms: Depending on the location and size of the lesion, infantile hemangiomas can cause a range of symptoms, including pain, bleeding, ulceration, or functional impairment (such as difficulty breathing or feeding). The presence of associated symptoms can impact the decision to treat the lesion and the choice of treatment modality.

A thorough clinical history, along with a physical exam and imaging studies if needed, can help to diagnose and manage infantile hemangiomas effectively. Treatment options may include observation, medication, or surgical intervention, depending on the location and severity of the lesion.

Physical examination

A physical examination of infantile hemangioma typically includes the following:

  • Inspection of the lesion: The lesion will be examined for its size, shape, location, color, texture, and associated symptoms (such as bleeding or ulceration). The appearance of the lesion can provide important information for diagnosis and treatment planning.
  • Palpation of the lesion: The lesion may be palpated to assess its consistency, depth, and vascularity. This can help to determine the extent of the lesion and the potential for complications.
  • Assessment of vital signs: The patient’s vital signs, including heart rate, blood pressure, and oxygen saturation, may be monitored to assess for any signs of compromise to vital functions.
  • Examination of nearby structures: Depending on the location of the lesion, nearby structures such as the eyes, nose, or mouth may be examined for any signs of involvement or functional impairment.
  • Imaging studies: In some cases, imaging studies such as ultrasound, MRI, or CT scans may be ordered to evaluate the extent and location of the lesion and to identify any potential complications.

A comprehensive physical examination, along with a thorough clinical history and any necessary imaging studies, can help to diagnose and manage infantile hemangiomas effectively. Treatment options may include observation, medication, or surgical intervention, depending on the location and severity of the lesion.

Differential diagnosis

  • LUMBAR condition
  • Wyburn-Mason condition
  • Visceral hemangiomas
  • Infantile hemangiomas
  • Sturge-Weber condition

Management must be multidisciplinary. For affected youngsters, there is no established therapy protocol. The treatment is tailored to the individual symptoms of each patient. Depending on various extracutaneous symptoms, individuals with PS may require the care of cardiologists & neurologists.

Because of the danger of stroke in people with cardiac and blood vessel disorders, hemangioma is usually successfully treated with oral propranolol. Hemangioma treatment may also include surgery, systemic steroids, and laser treatment. Aspirin therapy is widely suggested to avoid ischemic incidents. Cardiovascular problems may necessitate immediate surgical treatment.

https://www.ncbi.nlm.nih.gov/books/NBK539722/