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Related Concept Videos

Skin Diseases and Disorders01:23

Skin Diseases and Disorders

Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Graves Disease II: Pathophysiology01:24

Graves Disease II: Pathophysiology

Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor, and heat...
Accessory Structures of the Skin: Sebaceous Glands01:21

Accessory Structures of the Skin: Sebaceous Glands

A sebaceous gland is a type of oil gland found almost all over the skin ( except palms and soles) and helps lubricate and waterproof the skin and hair. Most sebaceous glands are associated with hair follicles. They generate and excrete sebum, a mixture of lipids, onto the skin surface, thereby naturally lubricating the dry and dead layer of keratinized cells of the stratum corneum, keeping it pliable.
These glands that produce the oils on the skin and hair are holocrine glands. The mature...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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,...
Cirrhosis I: Introduction01:23

Cirrhosis I: Introduction

Cirrhosis is a chronic, irreversible liver disease characterized by the widespread replacement of healthy liver tissue with fibrotic scar tissue and the formation of regenerative nodules.Etiology of cirrhosisCirrhosis results from sustained liver injury that triggers progressive fibrosis and structural remodeling. The underlying causes are diverse, encompassing common and less frequent clinical conditions. Regardless of the origin, all causes lead to chronic inflammation, hepatocyte loss, and...

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Related Experiment Video

Updated: Jun 25, 2026

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

Ichthyoses--Part 2: Congenital ichthyoses.

Markus Krug1, Vinzenz Oji, Heiko Traupe

  • 1Department of Dermatology, University of Tübingen, Germany. Markus.Krug@med.uni-tuebingen.de

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|February 5, 2009
PubMed
Summary
This summary is machine-generated.

Congenital ichthyoses are rare genetic skin disorders causing scaling and inflammation, significantly impacting quality of life. Diagnosis involves clinical, histological, and genetic tests, with management often requiring specialized centers.

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Last Updated: Jun 25, 2026

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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Published on: September 1, 2017

Area of Science:

  • Dermatology
  • Genetics
  • Rare Diseases

Background:

  • Congenital ichthyoses encompass a group of genetic disorders characterized by defective cornification, leading to skin scaling and inflammation.
  • These conditions significantly impair patients' quality of life.
  • Accurate diagnosis is challenging due to the rarity of many subtypes and is often performed in specialized centers.

Purpose of the Study:

  • To review congenital ichthyoses, focusing on genetic changes and clinical phenotypes.
  • To discuss diagnostic criteria and therapeutic options for these rare skin disorders.

Main Methods:

  • Review of clinical and histological findings.
  • Discussion of specialized diagnostic tests.
  • Analysis of common genetic changes and associated clinical phenotypes.

Main Results:

  • Congenital ichthyoses present with defective skin cornification, scaling, and inflammation.
  • Diagnosis relies on clinical presentation, histology, and genetic testing.
  • Effective specific therapies are lacking for most subtypes.

Conclusions:

  • Management of congenital ichthyoses requires an interdisciplinary approach, often within specialized dermatological centers.
  • Topical agents (urea, retinoids, salicylic acid) and mechanical keratolysis can alleviate symptoms.
  • Further research into genetic underpinnings and targeted therapies is crucial.