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Related Concept Videos

Pigmentation01:19

Pigmentation

The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
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.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
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,...
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...
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...

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Granulocyte-dependent Autoantibody-induced Skin Blistering
12:23

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Published on: October 12, 2012

Epidermolysis bullosa simplex with mottled pigmentation.

John C Browning1, Brooke Mohr

  • 1Division of Dermatology and Cutaneous Surgery, The University of Texas Health Science Center at San Antonio, USA.

Dermatology Online Journal
|February 4, 2012
PubMed
Summary

Epidermolysis bullosa with mottled pigmentation (EBS-MP) is a rare genetic disorder. This report details a case in a child, explaining its underlying genetic cause for better understanding of this rare skin condition.

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Area of Science:

  • Dermatology
  • Genetics
  • Pediatrics

Background:

  • Epidermolysis bullosa (EB) is a group of rare genetic blistering skin disorders.
  • Epidermolysis bullosa with mottled pigmentation (EBS-MP) is a rare variant characterized by skin fragility and distinct pigmentation patterns.
  • Understanding the genetic basis of rare EB subtypes is crucial for diagnosis and management.

Observation:

  • A pediatric case of epidermolysis bullosa with mottled pigmentation (EBS-MP) is presented.
  • The patient exhibited clinical features consistent with this rare genodermatosis.
  • Detailed clinical observations were recorded for diagnostic correlation.

Findings:

  • The study identifies and explains the specific genetic mutation responsible for EBS-MP in the reported case.
  • Genetic analysis confirmed the diagnosis of epidermolysis bullosa with mottled pigmentation.
  • This finding contributes to the molecular understanding of EB variants.

Implications:

  • Elucidating the genetic cause of EBS-MP aids in accurate diagnosis and genetic counseling.
  • This research may inform potential therapeutic strategies for epidermolysis bullosa.
  • Further research into the genetics of rare skin disorders like EBS-MP is warranted.