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Related Concept Videos

Disorders of the Autonomic Nervous System01:18

Disorders of the Autonomic Nervous System

The autonomic nervous system (ANS) is an intricate network of nerves that controls functions such as the regulation of heart rate, digestion, and blood pressure regulation. When this system malfunctions, it can lead to various disorders that affect multiple bodily functions. One common feature of many autonomic disorders is the involvement of smooth blood vessels, which play a crucial role in regulating blood flow throughout the body.
Raynaud's disease, also known as Raynaud's phenomenon, is a...
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Disorders of the Nervous Tissue

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Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

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Vascular Spasm

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Diabetic Neuropathy

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Major Somatic Sensory Pathways

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Related Experiment Video

Updated: Jun 11, 2026

Assessment of Vascular Regeneration in the CNS Using the Mouse Retina
07:32

Assessment of Vascular Regeneration in the CNS Using the Mouse Retina

Published on: June 23, 2014

Neurocutaneous vascular syndromes.

Katherine B Puttgen1, Doris D M Lin

  • 1Department of Dermatology, Division of Pediatric Dermatology, Johns Hopkins Hospital, 200 North Wolfe Street, Unit 2107, Baltimore, MD 21287, USA. kbrown83@jhmi.edu

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|June 29, 2010
PubMed
Summary

Recent advances in neurocutaneous vascular syndromes include refined PHACE syndrome criteria and new genetic discoveries like RASA-1. This update aids clinicians in diagnosing and managing these rare conditions.

Related Experiment Videos

Last Updated: Jun 11, 2026

Assessment of Vascular Regeneration in the CNS Using the Mouse Retina
07:32

Assessment of Vascular Regeneration in the CNS Using the Mouse Retina

Published on: June 23, 2014

Area of Science:

  • Neurocutaneous vascular syndromes
  • Pediatric neurology
  • Medical genetics

Background:

  • Recent years have seen significant progress in understanding neurocutaneous vascular syndromes.
  • Key developments include updated diagnostic criteria for PHACE syndrome and renaming of macrocephaly-cutis marmorata telangiectatica congenita to macrocephaly-capillary malformation.
  • Advances in Sturge-Weber syndrome diagnosis and management have also been noted.

Purpose of the Study:

  • To provide clinicians and researchers with an update on critical advancements in rare neurocutaneous vascular syndromes.
  • To enhance the care and management of patients with these conditions.
  • To establish a foundation for future research directions.

Main Methods:

  • Review of recent literature and clinical findings related to PHACE syndrome, macrocephaly-capillary malformation, and Sturge-Weber syndrome.
  • Synthesis of information regarding new diagnostic criteria, genetic mutations (e.g., RASA-1), and management strategies.
  • Emphasis on multidisciplinary care coordination for accurate diagnosis and work-up.

Main Results:

  • Stringent diagnostic criteria for PHACE syndrome have been developed.
  • Macrocephaly-cutis marmorata telangiectatica congenita is now macrocephaly-capillary malformation, reflecting its nature.
  • New genetic mutations, such as RASA-1, have been identified, contributing to understanding.
  • Progress has been made in the understanding and management of Sturge-Weber syndrome.

Conclusions:

  • Accurate diagnosis and management of these syndromes necessitate a coordinated, multidisciplinary approach.
  • Staying updated on these advances is crucial for improving patient outcomes.
  • Further research is needed to build upon recent discoveries.