Related Experiment Video
Updated: Jun 22, 2026

11:20
Retinal Pigment Epithelium Transplantation in a Non-human Primate Model for Degenerative Retinal Diseases
Published on: June 14, 2021
The blue rubber bleb [corrected] nevus syndrome
1William Penn Life Insurance Company of New York, 100 Quentin Roosevelt Boulevard, Garden City, New York, 11530, USA. rfeingold@lgamerica.com
Journal of Insurance Medicine (New York, N.Y.)
|June 13, 2009
Summary
Blue rubber bleb nevus syndrome (BRBNs) presents with widespread lesions, often causing severe gastrointestinal bleeding. This review covers the clinical features and management of this rare vascular malformation disorder.
Area of Science:
- Vascular Malformations
- Dermatology
- Gastroenterology
Background:
- Blue rubber bleb nevus syndrome (BRBNs) is a rare congenital disorder.
- Characterized by multiple venous malformations affecting the skin and gastrointestinal tract.
- Often presents with significant morbidity due to bleeding complications.
Observation:
- BRBNs lesions can occur throughout the body, with a predilection for the gastrointestinal tract.
- Gastrointestinal bleeding is a common and potentially life-threatening manifestation.
- Diagnosis can be challenging due to the variable presentation and rarity.
Findings:
- The review synthesizes current knowledge on the clinical presentation of BRBNs.
- Discusses diagnostic approaches, including imaging and endoscopic evaluation.
- Outlines various therapeutic strategies, ranging from conservative management to surgical and interventional options.
Implications:
- Improved understanding of BRBNs clinical features aids in timely diagnosis and management.
- Highlights the importance of a multidisciplinary approach for optimal patient outcomes.
- Emphasizes the need for continued research into novel treatment modalities for BRBNs.
Related Concept Videos
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...
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
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...
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
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,...
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...
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...
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 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 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 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,...

