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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...
Nucleotide Excision Repair01:38

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Nucleotide Excision Repair01:08

Nucleotide Excision Repair

Overview
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...

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Related Experiment Video

Updated: Jun 4, 2026

Minimal Erythema Dose (MED) Testing
06:24

Minimal Erythema Dose (MED) Testing

Published on: May 28, 2013

Xeroderma pigmentosum.

Saadia Nosheen Jan1, Farid Ahmad Khan, Bilal Ahmed Khan

  • 1Department of Plastic Surgery and Burn Unit, Mayo Hospital, Lahore. saadia_jan@yahoo.com

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|February 22, 2011
PubMed
Summary

Patients with Xeroderma pigmentosum stage 3 exhibit a high rate of new tumor formation and recurrence, predominantly basal cell carcinomas (BCCs). Many patients present with facial tumors and ocular complications, often with a family history of the disease.

Area of Science:

  • Dermatology
  • Oncology
  • Genetics

Background:

  • Xeroderma pigmentosum (XP) is a rare genetic disorder characterized by extreme sensitivity to ultraviolet (UV) radiation.
  • Stage 3 XP involves advanced disease manifestations, including a high incidence of skin cancers.

Purpose of the Study:

  • To delineate the clinical features and outcomes of patients diagnosed with Xeroderma pigmentosum at stage 3.
  • To analyze tumor characteristics, recurrence rates, and associated complications in this patient cohort.

Main Methods:

  • A case series study was conducted at Mayo Hospital Lahore from December 2001 to September 2008.
  • Data collected included age at presentation, tumor sites, histology, recurrence, new tumor formation, and biopsy frequency.
  • Follow-up was maintained for seven years.

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Precision Implementation of Minimal Erythema Dose (MED) Testing to Assess Individual Variation in Human Inflammatory Response

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Main Results:

  • Twenty-five patients (15 males, 10 females) were included, with a mean age of 20.4 years at initial presentation.
  • Basal cell carcinomas (BCCs) constituted 70% of tumors, predominantly on the face (80%).
  • The average interval for new tumor development was 6 months, and 13 patients experienced ocular complications.

Conclusions:

  • A significant family history was noted in 15 patients.
  • The study highlights an exceptionally high rate of new tumor formation and recurrence in stage 3 Xeroderma pigmentosum.
  • Basal cell carcinomas are the predominant malignancy observed in this advanced stage of XP.