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Related Concept Videos

Elastin is Responsible for Tissue Elasticity01:12

Elastin is Responsible for Tissue Elasticity

Elastic fiber contains the protein elastin along with lesser amounts of other proteins and glycoproteins. The main property of elastin is that it will return to its original shape after being stretched or compressed. Elastic fibers are prominent in elastic tissues found in skin and the elastic ligaments of the vertebral column.
Ligaments and tendons are made of dense regular connective tissue, but in ligaments not all fibers are parallel. Dense regular elastic tissue contains elastin fibers and...
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...
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
The papillary layer is made of loose, areolar connective tissue, which means the collagen and...
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...
Chronic Obstructive Pulmonary Disease II: Emphysema01:23

Chronic Obstructive Pulmonary Disease II: Emphysema

Emphysema, a major phenotype of chronic obstructive pulmonary disease (COPD), is characterized by irreversible destruction of alveolar walls and permanent enlargement of distal airspaces. Unlike chronic bronchitis, which primarily affects the airways, emphysema predominantly involves the lung parenchyma, where structural damage leads to airflow limitation.PathophysiologyIt most commonly results from prolonged exposure to cigarette smoke and other toxic gases, particularly cigarette smoke.
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,...

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Related Experiment Video

Updated: Jun 19, 2026

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia
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Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia

Published on: August 9, 2024

Pseudoxanthoma elasticum.

Arfan ul Bari1, Tariq Mehmood

  • 1Department of Dermatology, PAF Hospital, Sargodha/Pak Field Hospital-IV, UNAMSIL, Kenema, Sierra Leone, West Africa. albariul@gmail.com

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|October 9, 2009
PubMed
Summary

Pseudoxanthoma elasticum is a rare inherited connective tissue disorder. This case highlights its diverse systemic effects, including cardiovascular issues, and emphasizes the need for comprehensive management and patient education.

Area of Science:

  • Medical Genetics
  • Dermatology
  • Cardiology

Background:

  • Pseudoxanthoma elasticum (PXE) is a genetic disorder affecting connective tissue.
  • PXE is linked to significant systemic complications, particularly cardiovascular abnormalities.

Observation:

  • A 35-year-old female presented with characteristic skin findings: abnormal wrinkling, pigmentation, and laxity.
  • She exhibited multiple systemic manifestations of PXE.
  • These included hypertension, peripheral vascular disease, angioid streaks in the eyes, and mitral valve prolapse.

Findings:

  • The patient's presentation and constellation of symptoms were consistent with a diagnosis of Pseudoxanthoma elasticum.
  • Comprehensive investigations confirmed the widespread impact of the condition.

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  • Management focused on addressing individual manifestations and patient education.

    • Implications:

    • This case underscores the importance of recognizing the diverse systemic manifestations of PXE.
    • Early diagnosis and management are crucial for mitigating cardiovascular and other complications.
    • Regular follow-up and patient education are essential for long-term care and risk reduction.