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Related Concept Videos

Barrett Esophagus-I: Introduction01:21

Barrett Esophagus-I: Introduction

Barrett's esophagus is a medical condition where the esophageal mucosa is significantly damaged by stomach acid or other digestive fluids, often due to long-term exposure associated with gastroesophageal reflux disease (GERD). In GERD, a weakened or abnormally relaxed lower esophageal sphincter allows stomach acid to flow persistently into the esophagus.
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more similar...
Barrett Esophagus-II: Clinical Manifestations and Management01:21

Barrett Esophagus-II: Clinical Manifestations and Management

Individuals with Barrett's esophagus are often asymptomatic, but they may experience symptoms commonly associated with GERD, such as heartburn and acid regurgitation. Additional symptoms can include difficulty swallowing, chest pain, unintentional weight loss, blood in the stool (which may appear black, tarry, or bloody), and episodes of vomiting.
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure entails...
Borderline Personality Disorder01:25

Borderline Personality Disorder

Borderline Personality Disorder is a complex and multifaceted mental health condition characterized by pervasive instability in interpersonal relationships, self-image, emotions, and impulse control. This instability manifests in extreme emotional reactions, fear of abandonment, and self-destructive behaviors. The disorder significantly impacts daily functioning, often leading to distress in both personal and professional domains.
Genetic and Environmental Contributions
Borderline Personality...
Disorders of Acid-Base Balance01:29

Disorders of Acid-Base Balance

The human body maintains a precise pH range of arterial blood between 7.35 and 7.45. Deviations result in either acidosis (pH < 7.35) or alkalosis (pH > 7.45). These conditions are further classified as respiratory or metabolic disorders based on their underlying cause.
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Respiratory acidosis occurs due to an increase in the partial pressure of carbon dioxide PCO2 in the blood. It often arises from shallow breathing or impaired gas exchange caused by...
SBAR II: Application of SBAR01:14

SBAR II: Application of SBAR

SBAR is an effective communication tool used by healthcare professionals to communicate patient information accurately. SBAR stands for Situation, Background, Assessment, and Recommendation. For a better understanding, an example is given below.
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SBAR I: Understanding the Concept

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Updated: Jun 19, 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

Bart's syndrome.

Aruna Rajpal1, R Mishra, K Hajirnis

  • 1Department of Dermatology and Venerology, KJ Somaiya Medical College and Research Centre, Mumbai, India. somaiyamedical@hotmail.com

Indian Journal of Dermatology
|November 3, 2009
PubMed
Summary

Bart

Area of Science:

  • Pediatric Dermatology
  • Genetics
  • Neonatal Medicine

Background:

  • Congenital skin defects and blistering disorders represent a significant challenge in neonatology.
  • Bart's syndrome, a rare genodermatosis, is characterized by epidermolysis bullosa and congenital localized absence of skin.
  • Familial occurrence highlights the genetic basis of certain severe skin conditions in newborns.

Purpose of the Study:

  • To report a case of Bart's syndrome in a neonate with a positive family history.
  • To emphasize the diagnostic criteria and clinical presentation of this rare condition.
  • To underscore the importance of early recognition and genetic counseling in affected families.

Main Methods:

  • Clinical examination of the neonate presenting with congenital skin defects and blistering lesions.
Keywords:
Bart's syndromecongenital absence of skin

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  • Detailed family history collection, noting previous sibling deaths due to similar symptoms.
  • Skin biopsy for histopathological examination to confirm the diagnosis.

    • Main Results:

    • The neonate exhibited congenital skin absence on the right leg and nail abnormalities.
    • Multiple blistering skin lesions appeared within the first few days of life.
    • A familial pattern of neonatal death due to blistering skin conditions was identified.
    • Diagnosis of Bart's syndrome was confirmed through clinical findings, family history, and skin biopsy.

    Conclusions:

    • Bart's syndrome is a severe genodermatosis with a high mortality rate in neonates.
    • Clinical presentation, family history, and skin biopsy are crucial for diagnosis.
    • Genetic counseling and further research are warranted for better understanding and management of Bart's syndrome.