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Related Concept Videos

Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
Autoimmune Disorders01:29

Autoimmune Disorders

Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune system...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Myasthenia Gravis ll: Pathophysiology01:22

Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...
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Satellite Stem Cells and Muscular Dystrophy

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...

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Related Experiment Video

Updated: May 23, 2026

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
04:44

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

Systemic sclerosis, a rare case.

Elsa Sousa1, Paula Valente, Mafalda Santos

  • 1International Medicine Department, Centro Hospitalar de Entre Douro e Vouga, Unidade de Santa Maria da Feira, Portugal. elsa_sousa@vodafone.pt

Acta Reumatologica Portuguesa
|April 5, 2012
PubMed
Summary

Systemic sclerosis (SS) is a rare autoimmune disease affecting connective tissue. This case highlights diagnostic challenges, presenting a rare instance of SS without antinuclear antibodies (ANA).

Area of Science:

  • Rheumatology
  • Immunology
  • Autoimmune Diseases

Background:

  • Systemic sclerosis (SS) is a rare, severe autoimmune connective tissue disease with poorly understood pathophysiology and significant clinical heterogeneity.
  • Diagnosis typically relies on clinical findings, serological markers like antinuclear antibodies (ANA), nailfold capillaroscopy, and sometimes organ biopsy.
  • Current treatments address limited aspects of the disease, and clinical management remains challenging.

Observation:

  • The authors report an exceptionally rare case of systemic sclerosis (SS) that was antinuclear antibody (ANA) negative.
  • This presentation deviates from the typical diagnostic profile where ANA are found in over 90% of patients.

Findings:

  • The case underscores the diagnostic complexities of systemic sclerosis (SS).

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  • It demonstrates that ANA negativity does not exclude the possibility of SS, challenging conventional diagnostic approaches.

    • Implications:

    • This case emphasizes the need for a comprehensive diagnostic strategy beyond serological markers in suspected systemic sclerosis (SS).
    • It highlights the importance of considering clinical manifestations and other diagnostic tools when ANA are absent.
    • Further research may be warranted to understand the subset of ANA-negative SS patients and their specific characteristics.