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Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Cell Motility through Blebbing01:16

Cell Motility through Blebbing

Blebs are a type of membrane protrusion formed by the internal hydrostatic pressure of the cytoplasm. Blebs are observed in several cell types, including fibroblasts, immune cells, and single-celled organisms like the amoeba. The primary function of blebs is cell locomotion and apoptosis, but they are also found during necrosis and cell division. The life cycle of a bleb comprises an initiation phase followed by the expansion and retraction phases.
Blebbing Through the Matrix
In multicellular...
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
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...

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Related Experiment Video

Updated: Jul 13, 2026

Retinal Pigment Epithelium Transplantation in a Non-human Primate Model for Degenerative Retinal Diseases
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Retinal Pigment Epithelium Transplantation in a Non-human Primate Model for Degenerative Retinal Diseases

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Blue rubber bleb nevus syndrome.

R R Mittal1, Pureet

  • 1Department of Skin & V.D, Govt. Medical College, Patiala-147001, India.

Indian Journal of Dermatology, Venereology and Leprology
|August 1, 2007
PubMed
Summary

Blue rubber bleb nevus syndrome (BRBNS) is rare. This report details two cases, one classical with gastrointestinal bleeding and another with atypical leg nodules, highlighting diagnostic challenges.

Area of Science:

  • Dermatology
  • Vascular Malformations
  • Gastroenterology

Background:

  • Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital vascular malformation.
  • It is characterized by multiple venous malformations affecting the skin and internal organs, particularly the gastrointestinal tract.
  • BRBNS can lead to significant morbidity and mortality due to bleeding and other complications.

Purpose of the Study:

  • To report two rare cases of blue rubber bleb nevus syndrome.
  • To highlight the clinical presentation and diagnostic considerations for BRBNS.
  • To emphasize the importance of accurate diagnosis in managing patients with suspected BRBNS.

Main Methods:

  • Case report 1: Detailed clinical presentation of a patient with classical BRBNS, including skin lesions and gastrointestinal bleeding.

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Last Updated: Jul 13, 2026

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  • Case report 2: Description of a patient with atypical zosteriform vascular nodules simulating BRBNS, with a history of refusal for biopsy.
  • Review of diagnostic criteria and differential diagnoses for BRBNS.

    • Main Results:

    • Case 1 presented with classic features of BRBNS: multiple soft, painful, bluish nodules and significant gastrointestinal bleeding.
    • Case 2 exhibited atypical, segmental vascular nodules on the thigh, raising suspicion for BRBNS but lacking definitive histopathological confirmation due to patient refusal.
    • The differential diagnosis for segmental vascular lesions was considered.

    Conclusions:

    • BRBNS is a rare condition requiring careful clinical evaluation.
    • Atypical presentations can pose diagnostic challenges, necessitating a high index of suspicion.
    • Timely diagnosis and management are crucial for improving patient outcomes in BRBNS.