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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...
Role of Skin in Vitamin D Synthesis01:23

Role of Skin in Vitamin D Synthesis

The skin plays a crucial role in the synthesis of vitamin D, a vital nutrient for various physiological processes in the body. Vitamin D is unique because it can be synthesized in the skin through a series of chemical reactions triggered by exposure to ultraviolet B (UVB) radiation from sunlight.
The solar UV B rays (290-315 nm) are absorbed by the skin, and 7-dehydrocholesterol (provitamin D3) photolyzes it to previtamin D3, which undergoes a rapid transformation to vitamin D3(cholecalciferol).
Graves' Disease I: Introduction01:28

Graves' Disease I: Introduction

Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactivity of the thyroid gland. It results from autoantibodies called thyroid-stimulating immunoglobulins (TSIs), which bind to thyroid-stimulating hormone (TSH) receptors, leading to overstimulation of hormone production and a hypermetabolic state.EtiologyAlthough considered idiopathic, Graves’ disease has well-established contributing factors. There is a strong genetic component, with increased prevalence in...
Papillary Dermis01:11

Papillary Dermis

Dermis
The dermis might be considered the "core" of the integumentary system, as distinct from the epidermis and hypodermis. It contains blood and lymph vessels, nerves, and other structures, such as hair follicles and sweat glands. The dermis is made of two layers of connective tissue that comprise an interconnected mesh of elastin and collagenous fibers, produced by fibroblasts.
Papillary Layer
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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.
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Skin Cancer01:30

Skin Cancer

Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
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Updated: Jun 12, 2026

Granulocyte-dependent Autoantibody-induced Skin Blistering
12:23

Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

Bathing suit ichthyosis.

Felicidade Trindade1, Teresa Fiadeiro, Antonio Torrelo

  • 1Department of Dermatology, Hospital de Cascais, Av. Brigadeiro Victor Novais Gonçalves, 2755-009 Cascais, Portugal. felicidade.trindade@gmail.com

European Journal of Dermatology : EJD
|June 5, 2010
PubMed
Summary
This summary is machine-generated.

Bathing suit ichthyosis (BSI) is a rare genetic skin disorder. This study identifies a specific TGase-1 gene mutation causing temperature-sensitive skin scaling in affected children.

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Area of Science:

  • Genetics
  • Dermatology
  • Biochemistry

Background:

  • Bathing suit ichthyosis (BSI) is a rare autosomal recessive lamellar ichthyosis subtype.
  • It presents with a temperature-sensitive phenotype, featuring scaling primarily in 'bathing suit' areas.
  • The condition arises from mutations in the transglutaminase-1 (TGase-1) gene.

Observation:

  • A case study of a 2-year-old African girl with BSI is presented.
  • Ultrastructural and biochemical analyses confirmed TGase-1 deficiency in affected skin.
  • Clinical presentation included characteristic scaling restricted to specific body regions.

Findings:

  • Genetic analysis revealed a homozygous p.R315L mutation in the TGase-1 gene.
  • This mutation is associated with TGase-1 deficiency and temperature-sensitive enzyme dysfunction.
  • The findings provide a molecular basis for the observed BSI phenotype.

Implications:

  • This research clarifies the genetic etiology of BSI.
  • Understanding the temperature-sensitive nature of TGase-1 dysfunction offers insights into disease mechanisms.
  • The identified mutation can aid in genetic counseling and potential therapeutic strategies for BSI.