[Suspected vascular ehlers danlos syndrome. Case report]
Carolina Cevallos B1, Emilio Vargas2, Sergio González B3
1Pontificia Universidad Católica de Chile, Santiago, Chile.
Revista Medica De Chile
|December 12, 2018
Summary
Ehlers Danlos Syndrome is a group of connective tissue disorders. This case highlights a young male with symptoms suggestive of vascular Ehlers Danlos Syndrome, though genetic confirmation was not performed.
Area of Science:
- Genetics
- Dermatology
- Rheumatology
Background:
- Ehlers Danlos Syndrome (EDS) encompasses diverse genetic connective tissue disorders.
- These conditions arise from defects in collagen synthesis or modification.
- EDS presents with a wide spectrum of clinical manifestations.
Purpose of the Study:
- To present a case report of a young male with clinical features suggestive of Ehlers Danlos Syndrome.
- To discuss the diagnostic considerations for suspected vascular EDS.
Main Methods:
- Clinical case presentation.
- Review of patient's physical examination findings.
- Discussion of diagnostic criteria and limitations.
Main Results:
- A 21-year-old male exhibited translucent skin, visible venous patterns, facial dysmorphia (thin face, large eyes, thin lips, thin nose), joint hypermobility, and hip dysplasia history.
- These findings raised suspicion for vascular Ehlers Danlos Syndrome.
Conclusions:
- The described clinical phenotype warrants consideration for vascular Ehlers Danlos Syndrome.
- Further genetic investigation is crucial for definitive diagnosis and management planning in suspected EDS cases.
Related Concept Videos
03:24Seedless Vascular Plants
66.8K
Seedless Vascular Plants Were the First Tall Plants on Earth
66.8K
01:24Data Reporting and Recording
5.4K
Reporting and recording are crucial in data documentation. The timely, thorough, and accurate documentation of facts is essential when recording patient data. Failure to record findings during an assessment or interpretation of a problem will result in loss of information and make the patient document unreliable. The reader is left with general impressions if the information is not specific. A recording is documenting data of the individual's health information in a traceable, secure, and...
5.4K
01:25Types of Reports I: Hands-off Report
1.5K
A hand-off report, also known as a change-of-shift report, is a crucial nursing process that ensures the smooth transition of patient care responsibilities between nursing staff.
Following are the key components and categories of hand-off reports:
Purpose and Process:
Following are the key components and categories of hand-off reports:
Purpose and Process:
1.5K
01:21Types of Reports II: Incident or Occurrence Report
1.3K
An Incident or Occurrence Report in a healthcare setting is a crucial document used to record any unexpected occurrence that may or may not have affected a patient, employee, or visitor. Such reports are critical to improving patient safety and include all details leading up to and including the event.
Purposes:
In the healthcare industry, reports play a crucial role in documenting incidents within an agency. The primary objective of these reports is to ensure patient safety, uphold the...
Purposes:
In the healthcare industry, reports play a crucial role in documenting incidents within an agency. The primary objective of these reports is to ensure patient safety, uphold the...
1.3K
01:24Nephrotic Syndrome I : Introduction
633
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
633
01:26Types of Reports III: Telephone and Verbal Reports
1.0K
Telephone and Verbal Reports in healthcare settings are two communication methods for conveying therapeutic instructions from healthcare providers to nurses or other healthcare staff.
Here's an overview of each type:
Telephone Orders
Here's an overview of each type:
Telephone Orders
1.0K