Related Experiment Video

Updated: Jun 23, 2026

The Goeckerman Regimen for the Treatment of Moderate to Severe Psoriasis
11:39

The Goeckerman Regimen for the Treatment of Moderate to Severe Psoriasis

Published on: July 11, 2013

Cutaneous photosensitivity and coproporphyrin abnormalities in the Alagille syndrome

M B Poh-Fitzpatrick1, E Zaider, C Sciales

  • 1Department of Dermatology, New York Medical College, Valhalla.

Gastroenterology
|September 1, 1990
PubMed

Insights

Children with Alagille syndrome may develop skin issues due to elevated porphyrins. Porphyrin levels in blood and urine were abnormal, but didn't directly correlate with skin symptoms.

Area of Science:

  • Hepatology
  • Dermatology
  • Biochemistry

Background:

  • Alagille syndrome is a genetic disorder affecting multiple organs.
  • Skin manifestations resembling Porphyria cutanea tarda have been observed in some Alagille syndrome patients.

Purpose of the Study:

  • To investigate porphyrin metabolism in children with Alagille syndrome.
  • To determine the correlation between porphyrin levels and skin lesions in Alagille syndrome.

Main Methods:

  • Serum and urine porphyrin levels were measured in children with Alagille syndrome.
  • Coproporphyrin isomer ratios (I and III) were analyzed.
  • Clinical assessment of skin lesions was performed.

Main Results:

  • Four children with Alagille syndrome presented with blistering, fragility, and scarring of sun-exposed skin.
  • Abnormally elevated serum porphyrins, predominantly coproporphyrin isomers I and III, were found in affected children and others without skin lesions.
  • Elevated urinary porphyrin excretion was noted in most patients, with an altered isomer ratio (I:III >= 1).
  • No direct correlation was found between porphyrin levels and the presence or severity of skin lesions.

Conclusions:

  • Alagille syndrome is associated with altered porphyrin metabolism.
  • Elevated porphyrins may be a common biochemical finding in Alagille syndrome, irrespective of skin manifestations.
  • Other factors likely contribute to the development of photocutaneous lesions in Alagille syndrome.

More Related Videos

An In Vitro Approach to Photodynamic Therapy04:53

An In Vitro Approach to Photodynamic Therapy

Published on: August 17, 2018

Stimulation of Stem Cell Niches and Tissue Regeneration in Mouse Skin by Switchable Protoporphyrin IX-Dependent Photogeneration of Reactive Oxygen Species In Situ10:05

Stimulation of Stem Cell Niches and Tissue Regeneration in Mouse Skin by Switchable Protoporphyrin IX-Dependent Photogeneration of Reactive Oxygen Species In Situ

Published on: May 8, 2020

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...
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...
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...
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...
Drug Toxicity: Allergic Reactions01:30

Drug Toxicity: Allergic Reactions

Drug-related allergies are immune-mediated responses triggered by the administration of pharmacological agents. These hypersensitivity reactions are classified based on the immune mechanisms involved. The four primary types—Type I, II, III, and IV—are mediated by different immunological pathways and exhibit distinct clinical manifestations.Type I Hypersensitivity/ IgE-Mediated Reactions: Immunoglobulin E (IgE) immediately mediates Type I hypersensitivity reactions. Upon initial exposure to a...
Jaundice01:25

Jaundice

Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...