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Related Concept Videos

Hyperosmolar Hyperglycemic State01:21

Hyperosmolar Hyperglycemic State

Hyperosmolar Hyperglycemic State, or HHS, is a serious and life-threatening complication of type 2 diabetes mellitus. It is characterized by three main features: severe hyperglycemia, profound dehydration, and elevated serum osmolality, all occurring without significant ketoacidosis.HHS typically develops in older adults or individuals with limited access to fluids. This may result from illness, cognitive impairment, or medications such as diuretics or corticosteroids. These factors reduce...
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Renal Tubule and Collecting Duct

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Water balance disorders are medical conditions that occur when there is a deviation from the body's water volume or osmolarity, disrupting normal homeostasis and leading todehydration, hypotonic hydration, hyperhydration, edema, or water intoxication.
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Diabetes Insipidus II: Pathophysiology

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The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein complexes comprising desmosomal...

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Assessing Signaling Properties of Ectodermal Epithelia During Craniofacial Development
09:25

Assessing Signaling Properties of Ectodermal Epithelia During Craniofacial Development

Published on: March 24, 2011

Hypohydrotic ectodermal dysplasia.

T M Anoop1, S Simi, P N Mini

  • 1Department of Medicine, Kottayam Medical College, Kottayam, Kerala.

The Journal of the Association of Physicians of India
|August 16, 2008
PubMed
Summary
This summary is machine-generated.

Hypohidrotic ectodermal dysplasia (HED), a rare genetic disorder affecting ectodermal structures, typically manifests in males due to its X-linked recessive inheritance. This report details HED with classic symptoms in two siblings.

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Area of Science:

  • Genetics
  • Dermatology
  • Pediatrics

Background:

  • Hypohidrotic ectodermal dysplasia (HED), also known as Christ-Siemens Touraine syndrome, is a rare genetic disorder.
  • It primarily affects ectodermal structures, including skin, hair, nails, and glands.
  • HED is typically inherited in an X-linked recessive pattern, with females acting as carriers and males exhibiting the condition.

Observation:

  • This case report focuses on two siblings presenting with HED.
  • The siblings exhibited classical features of the disorder.
  • Manifestations of HED can vary significantly among affected individuals.

Findings:

  • The observed siblings presented with the characteristic symptoms of hypohidrotic ectodermal dysplasia.
  • The genetic basis and inheritance pattern were consistent with X-linked recessive transmission.
  • Variability in symptom severity, common in HED, was noted.

Implications:

  • This report highlights the importance of recognizing HED in siblings with suggestive clinical features.
  • Understanding the variable expressivity of HED is crucial for accurate diagnosis and management.
  • Further research into the genetic mechanisms and clinical spectrum of HED can improve patient outcomes.