Group Proposes Diagnostic Criteria for PHACES

PHILADELPHIA — An expert group has proposed consensus diagnostic criteria for PHACES syndrome that call for full neurologic and cerebrovascular, ophthalmologic, and cardiologic work-ups to be performed on infants with hemangiomas who are at risk for the syndrome.

“Basically we're recommending a work-up of all three organ systems for any patient who has large facial hemangioma, no matter where it's located,” said Dr. Denise Metry, first author of a poster on the criteria presented at the annual meeting of the Society for Pediatric Dermatology.

The neurocutaneous PHACES—posterior fossa anomalies, hemangioma, arterial abnormalities, cardiac and aortic arch defects, eye abnormalities, and sternal cleft anomalies—syndrome affects a subgroup of patients with infantile hemangiomas.

The syndrome involves structural anomalies of the brain, cerebral vasculature, aorta, eyes, and the chest wall. The most common features are brain and cerebral vasculature abnormalities, so neurologic and cognitive impairments are among the most common morbidities.

Often, patients with hemangiomas on the upper part of the face tend to be more at risk for brain and eye abnormalities, while infants with hemangiomas on the lower part of the face are more likely to be at risk for cardiac issues or airway involvement. These are not, however, hard and fast rules. “I had a patient [with] a mandibular segment hemangioma, who had brain involvement,” said Dr. Metry, highlighting the need for the criteria.

The proposed criteria for PHACES syndrome include a facial hemangioma larger than 5 cm in diameter plus one major criterion or two minor criteria. The major and minor criteria are categorized by organ system: cerebrovascular, structural brain, cardiovascular, ocular, and ventral or midline. (See table.)

Possible PHACES syndrome criteria include a facial hemangioma larger than 5 cm in diameter and one minor criterion, a hemangioma of the neck or upper torso plus one major or two minor criteria, or no hemangioma plus two major criteria.

“We're hoping that the criteria gain widespread acceptance,” said Dr. Metry, who is chief of the Texas Children's Dermatology Clinic in Houston.

Formal guidelines have been lacking for the care of infants with this disorder, though it is generally recommended that infants with large hemangiomas of the face or scalp undergo head, neck, and chest imaging, along with ophthalmologic and skin examinations.

Likewise, there have been no standardized criteria for the diagnosis of PHACES syndrome.

The development of these criteria followed standard consensus methodology, based on a review of published clinical data and the combined experience of a multidisciplinary expert panel that included pediatric dermatologists, neuroradiologists, pediatric oncologists, geneticists, pediatric cardiologists, ophthalmologists, and representatives from patient support groups.

The expert panel reviewed published, peer-reviewed medical literature obtained by querying the Medline and PubMed databases.

After the panel put together and reviewed an initial draft, key features were discussed and a basic consensus statement was drafted during an executive session at the PHACE syndrome research conference and workshop in 2008.

During the conference, diagnostic criteria were circulated to the attendees for discussion and revision. After the conference, the expert panel resolved all conflicting recommendations via e-mail and teleconferencing.

In creating the major and minor criteria, the panel members determined the relative frequencies of each criterion in the literature and existing registries.

“While these diagnostic criteria will continue to evolve as new research findings are incorporated, the establishment of guidelines will enhance clinical care by improving screening, detection, and awareness of this neurocutaneous disorder,” Dr. Metry and her associates wrote.

Major and Minor Criteria for PHACES Syndrome

Source ELSEVIER GLOBAL MEDICAL NEWS

PHILADELPHIA — An expert group has proposed consensus diagnostic criteria for PHACES syndrome that call for full neurologic and cerebrovascular, ophthalmologic, and cardiologic work-ups to be performed on infants with hemangiomas who are at risk for the syndrome.

“Basically we're recommending a work-up of all three organ systems for any patient who has large facial hemangioma, no matter where it's located,” said Dr. Denise Metry, first author of a poster on the criteria presented at the annual meeting of the Society for Pediatric Dermatology.

The neurocutaneous PHACES—posterior fossa anomalies, hemangioma, arterial abnormalities, cardiac and aortic arch defects, eye abnormalities, and sternal cleft anomalies—syndrome affects a subgroup of patients with infantile hemangiomas.

The syndrome involves structural anomalies of the brain, cerebral vasculature, aorta, eyes, and the chest wall. The most common features are brain and cerebral vasculature abnormalities, so neurologic and cognitive impairments are among the most common morbidities.

Often, patients with hemangiomas on the upper part of the face tend to be more at risk for brain and eye abnormalities, while infants with hemangiomas on the lower part of the face are more likely to be at risk for cardiac issues or airway involvement. These are not, however, hard and fast rules. “I had a patient [with] a mandibular segment hemangioma, who had brain involvement,” said Dr. Metry, highlighting the need for the criteria.

The proposed criteria for PHACES syndrome include a facial hemangioma larger than 5 cm in diameter plus one major criterion or two minor criteria. The major and minor criteria are categorized by organ system: cerebrovascular, structural brain, cardiovascular, ocular, and ventral or midline. (See table.)

Possible PHACES syndrome criteria include a facial hemangioma larger than 5 cm in diameter and one minor criterion, a hemangioma of the neck or upper torso plus one major or two minor criteria, or no hemangioma plus two major criteria.

“We're hoping that the criteria gain widespread acceptance,” said Dr. Metry, who is chief of the Texas Children's Dermatology Clinic in Houston.

Formal guidelines have been lacking for the care of infants with this disorder, though it is generally recommended that infants with large hemangiomas of the face or scalp undergo head, neck, and chest imaging, along with ophthalmologic and skin examinations.

Likewise, there have been no standardized criteria for the diagnosis of PHACES syndrome.

The development of these criteria followed standard consensus methodology, based on a review of published clinical data and the combined experience of a multidisciplinary expert panel that included pediatric dermatologists, neuroradiologists, pediatric oncologists, geneticists, pediatric cardiologists, ophthalmologists, and representatives from patient support groups.

The expert panel reviewed published, peer-reviewed medical literature obtained by querying the Medline and PubMed databases.

After the panel put together and reviewed an initial draft, key features were discussed and a basic consensus statement was drafted during an executive session at the PHACE syndrome research conference and workshop in 2008.

During the conference, diagnostic criteria were circulated to the attendees for discussion and revision. After the conference, the expert panel resolved all conflicting recommendations via e-mail and teleconferencing.

In creating the major and minor criteria, the panel members determined the relative frequencies of each criterion in the literature and existing registries.

“While these diagnostic criteria will continue to evolve as new research findings are incorporated, the establishment of guidelines will enhance clinical care by improving screening, detection, and awareness of this neurocutaneous disorder,” Dr. Metry and her associates wrote.

Major and Minor Criteria for PHACES Syndrome

Source ELSEVIER GLOBAL MEDICAL NEWS

PHILADELPHIA — An expert group has proposed consensus diagnostic criteria for PHACES syndrome that call for full neurologic and cerebrovascular, ophthalmologic, and cardiologic work-ups to be performed on infants with hemangiomas who are at risk for the syndrome.

“Basically we're recommending a work-up of all three organ systems for any patient who has large facial hemangioma, no matter where it's located,” said Dr. Denise Metry, first author of a poster on the criteria presented at the annual meeting of the Society for Pediatric Dermatology.

The neurocutaneous PHACES—posterior fossa anomalies, hemangioma, arterial abnormalities, cardiac and aortic arch defects, eye abnormalities, and sternal cleft anomalies—syndrome affects a subgroup of patients with infantile hemangiomas.

The syndrome involves structural anomalies of the brain, cerebral vasculature, aorta, eyes, and the chest wall. The most common features are brain and cerebral vasculature abnormalities, so neurologic and cognitive impairments are among the most common morbidities.

Often, patients with hemangiomas on the upper part of the face tend to be more at risk for brain and eye abnormalities, while infants with hemangiomas on the lower part of the face are more likely to be at risk for cardiac issues or airway involvement. These are not, however, hard and fast rules. “I had a patient [with] a mandibular segment hemangioma, who had brain involvement,” said Dr. Metry, highlighting the need for the criteria.

The proposed criteria for PHACES syndrome include a facial hemangioma larger than 5 cm in diameter plus one major criterion or two minor criteria. The major and minor criteria are categorized by organ system: cerebrovascular, structural brain, cardiovascular, ocular, and ventral or midline. (See table.)

Possible PHACES syndrome criteria include a facial hemangioma larger than 5 cm in diameter and one minor criterion, a hemangioma of the neck or upper torso plus one major or two minor criteria, or no hemangioma plus two major criteria.

“We're hoping that the criteria gain widespread acceptance,” said Dr. Metry, who is chief of the Texas Children's Dermatology Clinic in Houston.

Formal guidelines have been lacking for the care of infants with this disorder, though it is generally recommended that infants with large hemangiomas of the face or scalp undergo head, neck, and chest imaging, along with ophthalmologic and skin examinations.

Likewise, there have been no standardized criteria for the diagnosis of PHACES syndrome.

The development of these criteria followed standard consensus methodology, based on a review of published clinical data and the combined experience of a multidisciplinary expert panel that included pediatric dermatologists, neuroradiologists, pediatric oncologists, geneticists, pediatric cardiologists, ophthalmologists, and representatives from patient support groups.

The expert panel reviewed published, peer-reviewed medical literature obtained by querying the Medline and PubMed databases.

After the panel put together and reviewed an initial draft, key features were discussed and a basic consensus statement was drafted during an executive session at the PHACE syndrome research conference and workshop in 2008.

During the conference, diagnostic criteria were circulated to the attendees for discussion and revision. After the conference, the expert panel resolved all conflicting recommendations via e-mail and teleconferencing.

In creating the major and minor criteria, the panel members determined the relative frequencies of each criterion in the literature and existing registries.

“While these diagnostic criteria will continue to evolve as new research findings are incorporated, the establishment of guidelines will enhance clinical care by improving screening, detection, and awareness of this neurocutaneous disorder,” Dr. Metry and her associates wrote.

Major and Minor Criteria for PHACES Syndrome

Source ELSEVIER GLOBAL MEDICAL NEWS