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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...
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...
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,...
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...
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category, whereas...

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Related Experiment Video

Updated: Jul 3, 2026

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System
07:04

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System

Published on: February 4, 2021

Xeroderma pigmentosa--a disfiguring disease.

D W Eugene1, K D Joshi

  • 1Plastic and Burn and Reconstructive Unit, Kathmandu Medical College, Sinamangal, Kathmandu, Nepal.

Kathmandu University Medical Journal (KUMJ)
|July 8, 2008
PubMed
Summary
This summary is machine-generated.

Xeroderma pigmentosa (XP) patients have a significantly higher risk of developing skin cancers like basal cell carcinoma and melanoma due to impaired DNA repair. This report details two pediatric cases, highlighting the challenges in managing these aggressive skin cancers in XP patients.

Related Experiment Videos

Last Updated: Jul 3, 2026

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System
07:04

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System

Published on: February 4, 2021

Area of Science:

  • Genetics
  • Dermatology
  • Oncology

Background:

  • Xeroderma pigmentosa (XP) is a rare autosomal recessive disorder characterized by defective DNA repair mechanisms, particularly following UV radiation exposure.
  • Individuals with XP exhibit extreme photosensitivity and a dramatically increased risk (2000-fold) of developing skin cancers.

Observation:

  • This report presents two pediatric cases of XP with significant dermatological manifestations.
  • Case 1: A teenage girl diagnosed with basal cell carcinoma (BCC) on her face.
  • Case 2: A 10-year-old girl presenting with melanoma on her scalp.

Findings:

  • Basal cell carcinoma is the most frequent cancer associated with XP, followed by squamous cell carcinoma and melanoma.
  • The study details the clinical presentation and management strategies for these two distinct cases of XP-associated skin cancers.

Implications:

  • XP-associated skin cancers, particularly those on the face, can be disfiguring and necessitate repeated surgical interventions.
  • The psychological and social impact of recurrent cancers and disfigurement in XP patients requires careful consideration in management.
  • Early diagnosis and tailored management are crucial for improving outcomes in pediatric XP patients with skin cancer.