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Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
Cushing Syndrome I: Introduction01:26

Cushing Syndrome I: Introduction

Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
Social Anxiety Disorder01:28

Social Anxiety Disorder

Social anxiety disorder, also known as social phobia, is characterized by an intense fear of social situations where one might face humiliation, rejection, embarrassment, or negative evaluation. This disorder leads individuals to avoid activities like casual conversations, public speaking, or seemingly simple tasks such as eating, signing documents, or swimming, in public settings. Its impact extends beyond discomfort, often significantly interfering with daily functioning and quality of life.
Panic Disorder01:27

Panic Disorder

Panic disorder is an anxiety disorder characterized by recurrent and sudden minutes-long episodes of intense fear, known as panic attacks. These attacks may feel like heart attacks and often happen without warning or a specific cause. They can include symptoms such as rapid heart rate, shortness of breath, chest pain, trembling, sweating, dizziness, and a sense of helplessness. During a panic attack, individuals may feel as though they are experiencing a heart attack or are in a...
Obsessive-Compulsive Disorder01:28

Obsessive-Compulsive Disorder

Obsessive-compulsive disorder (OCD) is a mental health condition characterized by recurrent obsessions, compulsions, or both, which consume significant time and interfere with daily functioning. Obsessions involve persistent, intrusive, and unwanted thoughts, images, or urges that evoke anxiety. Common examples include irrational fears of contamination or harm. Compulsions are repetitive behaviors or mental acts performed to reduce the anxiety caused by obsessions. For instance, individuals...
Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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Related Experiment Video

Updated: May 10, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Do you know this syndrome?

Gabriela Maria Abreu Gontijo1

  • 1gabrielagontijo@hotmail.com

Anais Brasileiros De Dermatologia
|June 7, 2013
PubMed
Summary

Bourneville-Pringle syndrome, a neurocutaneous disorder, involves hamartomas in multiple organs. Early diagnosis based on clinical signs like facial angiofibromas is crucial for managing complications.

Area of Science:

  • Neurocutaneous disorders
  • Genetics and heredity
  • Dermatology

Background:

  • Bourneville-Pringle syndrome is an autosomal dominant neurocutaneous disorder.
  • It is characterized by hamartomas affecting various organ systems, including the brain, skin, retina, kidney, heart, and lungs.

Observation:

  • A case presentation details a patient with specific skin manifestations: brownish plaques on the forehead and temporal region, pink papules on the malar and chin areas, and hypopigmented macules on the back and trunk.
  • These clinical signs are key indicators for diagnosis.

Findings:

  • The diagnosis of Bourneville-Pringle syndrome relies on established clinical criteria.
  • Definitive diagnosis requires the presence of at least two major criteria, such as facial angiofibromas, forehead fibrous plaques, or three or more hypomelanotic macules.

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Related Experiment Videos

Last Updated: May 10, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Implications:

  • Early and accurate diagnosis of Bourneville-Pringle syndrome is essential.
  • Prompt diagnosis facilitates timely assessment and management of associated complications, improving patient outcomes.