Related Experiment Video

Updated: Aug 11, 2026

Granulocyte-dependent Autoantibody-induced Skin Blistering
12:23

Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

Urticaria pigmentosa and acute lymphoblastic leukaemia

H M Lewis1, E Winter, P Darbyshire

  • 1Department of Dermatology, Children's Hospital, Birmingham, England, UK.

Journal of the Royal Society of Medicine
|September 1, 1995
PubMed

Insights

Childhood urticaria pigmentosa usually resolves on its own. However, this case highlights a rare association between extensive urticaria pigmentosa, a heart defect, and acute lymphoblastic leukemia, suggesting a potential shared cause.

Area of Science:

  • Pediatric Hematology Oncology
  • Dermatology
  • Genetics

Background:

  • Childhood urticaria pigmentosa (also known as mastocytosis) typically presents with a favorable prognosis and spontaneous resolution in most cases.
  • Despite the generally benign course, a subset of patients with urticaria pigmentosa have been reported to develop hematological malignancies.
  • The underlying mechanisms linking urticaria pigmentosa to hematological malignancies remain incompletely understood.

Observation:

  • This report details a pediatric case of extensive urticaria pigmentosa.
  • The patient also presented with a significant congenital cardiac anomaly.
  • The child subsequently developed acute lymphoblastic leukemia (ALL).

Findings:

  • The co-occurrence of extensive urticaria pigmentosa, congenital heart disease, and acute lymphoblastic leukemia in this child is noteworthy.
  • This specific combination suggests a potential shared underlying etiology or a complex interplay of genetic or developmental factors.
  • The case adds to the limited literature associating urticaria pigmentosa with hematological malignancies.

Implications:

  • This case underscores the importance of vigilant monitoring for hematological malignancies in children with extensive urticaria pigmentosa, particularly those with additional congenital anomalies.
  • Further research into shared genetic pathways or common etiological factors may elucidate the relationship between urticaria pigmentosa and leukemia.
  • Understanding these associations could lead to improved diagnostic strategies and risk stratification for affected children.

More Related Videos

From a 2DE-Gel Spot to Protein Function: Lesson Learned From HS1 in Chronic Lymphocytic Leukemia10:18

From a 2DE-Gel Spot to Protein Function: Lesson Learned From HS1 in Chronic Lymphocytic Leukemia

Published on: October 19, 2014

Assessment of Chimeric Antigen Receptor T Cell-Associated Toxicities Using an Acute Lymphoblastic Leukemia Patient-Derived Xenograft Mouse Model06:08

Assessment of Chimeric Antigen Receptor T Cell-Associated Toxicities Using an Acute Lymphoblastic Leukemia Patient-Derived Xenograft Mouse Model

Published on: February 10, 2023

Related Concept Videos

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,...
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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...
Disorders of Leukocytes01:27

Disorders of Leukocytes

Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune system...
Hypersensitivity Reactions: Immune-Complex Reactions01:19

Hypersensitivity Reactions: Immune-Complex Reactions

Type III hypersensitivity reactions occur when antigen–antibody complexes form and activate the complement system. Normally, these complexes help the clearance of antigens by phagocytes and red blood cells. However, when large numbers of immune complexes are present, they can deposit in tissues—particularly in the walls of blood vessels—leading to inflammation and tissue injury. These deposits trigger complement activation and neutrophil recruitment, resulting in serum sickness, a systemic...