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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...
Renal Tubule and Collecting Duct01:24

Renal Tubule and Collecting Duct

The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
Diabetes Insipidus II: Pathophysiology01:22

Diabetes Insipidus II: Pathophysiology

Normally, water balance is maintained through three interconnected mechanisms: the hypothalamic thirst center, the synthesis and release of antidiuretic hormone (ADH, or vasopressin), and the kidneys' responsiveness to this hormone. ADH is synthesized in the hypothalamus, released from the posterior pituitary, and acts on the distal nephron, allowing water reabsorption and concentrated urine production.Diabetes Insipidus and Its TypesIn diabetes insipidus (DI), this regulatory system is...
Diabetes Insipidus I: Introduction01:29

Diabetes Insipidus I: Introduction

Definition Diabetes insipidus is a disorder marked by the production of large amounts of dilute urine because of impaired vasopressin production, release, or kidney response. The lack of effective vasopressin action limits water reabsorption in the renal collecting ducts, which leads to excessive urinary water loss and intense thirst.Clinical PresentationIndividuals with diabetes insipidus report persistent thirst and very high urine output. In severe cases, fluid intake can reach up to 20...
Desmosomes01:05

Desmosomes

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...
Disorder of Water Balance01:29

Disorder of Water Balance

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.
Dehydration
Dehydration occurs when the body loses fluids (particularly water).
Causes:
The major causes of dehydration include excessive sweating, fever, vomiting, diarrhea, and diuresis.
Signs and Symptoms:
Symptoms primarily include intense...

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Updated: Jun 27, 2026

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

Hypohidrotic ectodermal dysplasia.

Phoebe D Lu1, Julie V Schaffer

  • 1Department of Dermatology, New York University, USA.

Dermatology Online Journal
|December 9, 2008
PubMed
Summary
This summary is machine-generated.

Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder affecting ectodermal structures. This study reports on three children with HED, highlighting key clinical features and genetic underpinnings.

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Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
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Published on: December 15, 2011

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Last Updated: Jun 27, 2026

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

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
10:27

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

Published on: December 15, 2011

Area of Science:

  • Genetics
  • Dermatology
  • Pediatrics

Background:

  • Hypohidrotic ectodermal dysplasia (HED) is a group of inherited disorders characterized by abnormal development of ectodermal structures.
  • HED impacts hair, nails, teeth, and sweat glands, leading to significant health and cosmetic concerns.

Observation:

  • Three pediatric patients with HED presented with a consistent set of clinical manifestations.
  • Key features included hypohidrosis, sparse hair, oligodontia with conical teeth, periorbital hyperpigmentation, eczematous dermatitis, and distinct facial dysmorphisms.

Findings:

  • Two affected sisters with unaffected parents suggest autosomal recessive inheritance of HED in this cohort.
  • The observed phenotype aligns with known HED presentations, implicating the ectodysplasin signaling pathway.

Implications:

  • Understanding the genetic basis of HED, including both X-linked and autosomal forms, is crucial for accurate diagnosis and genetic counseling.
  • Further research into the ectodysplasin pathway can lead to targeted therapies for HED patients.