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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:
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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

Hypohidrotic ectodermal dysplasia.

Saurabh Agarwal1, Shalini Gupta

  • 1Department of Skin and VD, Government Medical College, Haldwani, Nainital, Uttarakhand, India.

Indian Dermatology Online Journal
|November 7, 2012
PubMed
Summary
This summary is machine-generated.

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder affecting ectodermal development, causing issues with sweating, hair, and teeth. This report details a classic case of HED, offering insights into this condition.

Keywords:
Ectodermal dysplasiagenetic disorderhypohidrotic

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Area of Science:

  • Genetics and Developmental Biology
  • Dermatology
  • Oral Medicine

Background:

  • Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder impacting ectodermal structures.
  • It is typically inherited in an X-linked recessive pattern, predominantly affecting males.
  • Key features include anhidrosis/hypohidrosis, hypotrichosis, and hypodontia.

Observation:

  • This study presents a classical case of hypohidrotic ectodermal dysplasia.
  • The case aligns with the typical clinical presentation of the disorder.

Findings:

  • The case confirms the characteristic triad of symptoms associated with HED.
  • Detailed clinical observations support the diagnosis of this rare genetic condition.

Implications:

  • Understanding HED's genetic basis is crucial for diagnosis and genetic counseling.
  • This case report contributes to the literature, aiding in the recognition and management of HED.
  • Further research can explore genotype-phenotype correlations and potential therapeutic strategies.