Blue rubber bleb nevus syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Blue rubber bleb nevus syndrome | |||
| image = [[File:BRNSCase-36.jpg|left|thumb|Blue rubber bleb nevus on the skin]] | |||
| caption = Blue rubber bleb nevus on the skin | |||
| synonyms = Bean syndrome | |||
| pronounce = | |||
| specialty = [[Dermatology]], [[Gastroenterology]] | |||
| symptoms = [[Venous malformations]] on the skin and internal organs | |||
| complications = [[Gastrointestinal bleeding]], [[anemia]] | |||
| onset = [[Childhood]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Clinical examination]], [[Endoscopy]], [[Imaging studies]] | |||
| differential = [[Hereditary hemorrhagic telangiectasia]], [[Klippel–Trénaunay syndrome]] | |||
| prevention = | |||
| treatment = [[Sclerotherapy]], [[Laser therapy]], [[Surgical removal]] | |||
| medication = [[Iron supplements]], [[Blood transfusions]] | |||
| prognosis = Variable, depends on severity | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
== '''Alternate Names''' == | == '''Alternate Names''' == | ||
Bean syndrome; Blue rubber bleb nevus; BRBNS | Bean syndrome; Blue rubber bleb nevus; BRBNS | ||
== '''Definition''' == | == '''Definition''' == | ||
Blue rubber bleb nevus syndrome is a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines). | Blue rubber bleb nevus syndrome is a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines). | ||
== '''Summary''' == | == '''Summary''' == | ||
The malformed blood vessels appear as a spot or [[lesion]] called a [[nevus]]. | The malformed blood vessels appear as a spot or [[lesion]] called a [[nevus]]. | ||
The underlying blood vessel malformations are present from birth even though the [[nevus]] may not be visible until later in life. The size, number, location, and severity of these malformations vary from person to person. Affected areas on the skin can be painful or tender to the touch and may be prone to sweating ([[hyperhidrosis]]). Nevi in the intestines can bleed spontaneously and cause anemia or more serious complications. | The underlying blood vessel malformations are present from birth even though the [[nevus]] may not be visible until later in life. The size, number, location, and severity of these malformations vary from person to person. Affected areas on the skin can be painful or tender to the touch and may be prone to sweating ([[hyperhidrosis]]). Nevi in the intestines can bleed spontaneously and cause anemia or more serious complications. | ||
[[File:BRNSCase-36.jpg|thumb]] | [[File:BRNSCase-36.jpg|left|thumb]] | ||
[[File:BRBNS.PNG|thumb]] | [[File:BRBNS.PNG|left|thumb]] | ||
== '''Cause''' == | == '''Cause''' == | ||
Currently the cause of blue rubber bleb syndrome is not known. | Currently the cause of blue rubber bleb syndrome is not known. | ||
== '''Inheritance''' == | == '''Inheritance''' == | ||
The syndrome is considered sporadic. Someone who is diagnosed with BRBNS likely has a family relative that has other multifocal venous malformations which is a symptom of the disease. Autosomal inheritance of BRBNS has been found in familial cases associated with chromosome 9p, but the majority of cases are sporadic. The disease correlates with an onset of GI complications. It is reported that GI bleeding is the most common cause of death in most cases. | The syndrome is considered sporadic. Someone who is diagnosed with BRBNS likely has a family relative that has other multifocal venous malformations which is a symptom of the disease. Autosomal inheritance of BRBNS has been found in familial cases associated with chromosome 9p, but the majority of cases are sporadic. The disease correlates with an onset of GI complications. It is reported that GI bleeding is the most common cause of death in most cases. | ||
== '''Symptoms''' == | == '''Symptoms''' == | ||
Symptoms and severity of blue rubber bleb nevus syndrome varies greatly from person to person. In general, blue rubber bleb nevus syndrome is characterized by skin spots ([[nevi]]) that may be few to hundreds in number. Size tends varies from millimeters to several centimeters in length. These nevi are made of blood vessels and are spongy, meaning they can easily be pressed upon. When pressure is released, they refill with blood and regain their original shape. They tend to be blue but can vary in color and shape. The surface of the nevi may be smooth or wrinkled and they often have a rubbery feel. They do not tend to bleed spontaneously, but are fragile and will bleed if injured. They may be tender to the touch. They may also be associated with increased sweating in the area of the skin legions. The number and size of legions may worsen with advancing age. | Symptoms and severity of blue rubber bleb nevus syndrome varies greatly from person to person. In general, blue rubber bleb nevus syndrome is characterized by skin spots ([[nevi]]) that may be few to hundreds in number. Size tends varies from millimeters to several centimeters in length. These nevi are made of blood vessels and are spongy, meaning they can easily be pressed upon. When pressure is released, they refill with blood and regain their original shape. They tend to be blue but can vary in color and shape. The surface of the nevi may be smooth or wrinkled and they often have a rubbery feel. They do not tend to bleed spontaneously, but are fragile and will bleed if injured. They may be tender to the touch. They may also be associated with increased sweating in the area of the skin legions. The number and size of legions may worsen with advancing age. | ||
Nevi may also be found in the intestines (particularly the small intestine) in individuals with blue rubber bleb nevus syndrome. These nevi can bleed spontaneously causing anemia. Most bleeding from the gastrointestinal tract is slow; however, sudden quick bleeding ([[hemorrhage]]) is possible. Other serious complications of gastrointestinal legions may include intussusception, bowel infarction, and even death. | Nevi may also be found in the intestines (particularly the small intestine) in individuals with blue rubber bleb nevus syndrome. These nevi can bleed spontaneously causing anemia. Most bleeding from the gastrointestinal tract is slow; however, sudden quick bleeding ([[hemorrhage]]) is possible. Other serious complications of gastrointestinal legions may include intussusception, bowel infarction, and even death. | ||
Blue rubber bleb nevus syndrome can affect other body organs as well. Nevi have been reported in the skull, central nervous system, thyroid, parotid, eyes, mouth, lungs, pleura, pericardium, musculoskeletal system, peritoneal cavity, mesentery, kidney, liver, spleen, penis, vulva, and bladder. Nevi may also put pressure on joints, bones, or feet, which may make walking difficult or limit range of motion. | Blue rubber bleb nevus syndrome can affect other body organs as well. Nevi have been reported in the skull, central nervous system, thyroid, parotid, eyes, mouth, lungs, pleura, pericardium, musculoskeletal system, peritoneal cavity, mesentery, kidney, liver, spleen, penis, vulva, and bladder. Nevi may also put pressure on joints, bones, or feet, which may make walking difficult or limit range of motion. | ||
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | ||
80%-99% of people have these symptoms | 80%-99% of people have these symptoms | ||
* Arteriovenous malformation | * Arteriovenous malformation | ||
| Line 33: | Line 47: | ||
* Skin rash | * Skin rash | ||
* Visceral [[angiomatosis]] | * Visceral [[angiomatosis]] | ||
30%-79% of people have these symptoms | 30%-79% of people have these symptoms | ||
* Abnormality of [[coagulation]] | * Abnormality of [[coagulation]] | ||
| Line 39: | Line 52: | ||
* Subcutaneous nodule(Firm lump under the skin) | * Subcutaneous nodule(Firm lump under the skin) | ||
* [[Volvulus]] | * [[Volvulus]] | ||
5%-29% of people have these symptoms | 5%-29% of people have these symptoms | ||
* Gastrointestinal infarctions(Death of digestive organ tissue due to poor blood supply) | * Gastrointestinal infarctions(Death of digestive organ tissue due to poor blood supply) | ||
* Microcytic [[anemia]] | * Microcytic [[anemia]] | ||
== '''Diagnosis''' == | == '''Diagnosis''' == | ||
Blue rubber bleb nevus syndrome is difficult to diagnose because of how rare the disease is. Diagnosing BRBNS is usually based on the presence of cutaneous lesions with or without gastrointestinal bleeding and/or involvement of other organs. | Blue rubber bleb nevus syndrome is difficult to diagnose because of how rare the disease is. Diagnosing BRBNS is usually based on the presence of cutaneous lesions with or without gastrointestinal bleeding and/or involvement of other organs. | ||
Cutaneous angiomas are found on the surface of the skin and from the scalp to the soles of feet.The characteristics of the cutaneous lesions are rubbery, soft, tender and hemorrhagic, easily compressible and promptly refill after compression. | Cutaneous angiomas are found on the surface of the skin and from the scalp to the soles of feet.The characteristics of the cutaneous lesions are rubbery, soft, tender and hemorrhagic, easily compressible and promptly refill after compression. | ||
A physical examination is mostly used to diagnosis cutaneous angiomas on the surface of the skin. Endoscopy has been the leading diagnostic tool for diagnosing BRBNS for those who suffer from lesions in the gastrointestinal tract. The GI tract is illuminated and visualized in endoscopy. | A physical examination is mostly used to diagnosis cutaneous angiomas on the surface of the skin. Endoscopy has been the leading diagnostic tool for diagnosing BRBNS for those who suffer from lesions in the gastrointestinal tract. The GI tract is illuminated and visualized in endoscopy. | ||
[[Endoscopy]] also allows immediate therapeutic measures like argon plasma, coagulation, laser photocoagulation, sclerotherapy, or band ligation. Besides physical examination and endoscopy, ultrasonography, radiographic images, CT and magnetic resonance imaging are helpful for detection of affected visceral organs. | [[Endoscopy]] also allows immediate therapeutic measures like argon plasma, coagulation, laser photocoagulation, sclerotherapy, or band ligation. Besides physical examination and endoscopy, ultrasonography, radiographic images, CT and magnetic resonance imaging are helpful for detection of affected visceral organs. | ||
== '''Treatment''' == | == '''Treatment''' == | ||
Treatment of blue rubber bleb nevus syndrome varies depending on the severity and location of the affected areas. Skin spots do not usually require treatment, but some individuals with this condition may want treatment for cosmetic reasons or if the location of the nevus causes discomfort or affects normal function. Bleeding in the intestines may be treated with iron supplements and blood transfusions when necessary.Surgery to remove an affected area of bowel may be recommended for repeated or severe bleeding ([[hemorrhage]]). | Treatment of blue rubber bleb nevus syndrome varies depending on the severity and location of the affected areas. Skin spots do not usually require treatment, but some individuals with this condition may want treatment for cosmetic reasons or if the location of the nevus causes discomfort or affects normal function. Bleeding in the intestines may be treated with iron supplements and blood transfusions when necessary.Surgery to remove an affected area of bowel may be recommended for repeated or severe bleeding ([[hemorrhage]]). | ||
{{Vascular tumors}} | {{Vascular tumors}} | ||
[[Category:Genodermatoses]] | [[Category:Genodermatoses]] | ||
[[Category:Syndromes with tumors]] | [[Category:Syndromes with tumors]] | ||
Latest revision as of 18:37, 4 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Blue rubber bleb nevus syndrome | |
|---|---|
 | |
| Synonyms | Bean syndrome |
| Pronounce | |
| Specialty | Dermatology, Gastroenterology |
| Symptoms | Venous malformations on the skin and internal organs |
| Complications | Gastrointestinal bleeding, anemia |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Clinical examination, Endoscopy, Imaging studies |
| Differential diagnosis | Hereditary hemorrhagic telangiectasia, Klippel–Trénaunay syndrome |
| Prevention | |
| Treatment | Sclerotherapy, Laser therapy, Surgical removal |
| Medication | Iron supplements, Blood transfusions |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | |
Alternate Names[edit]
Bean syndrome; Blue rubber bleb nevus; BRBNS
Definition[edit]
Blue rubber bleb nevus syndrome is a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines).
Summary[edit]
The malformed blood vessels appear as a spot or lesion called a nevus. The underlying blood vessel malformations are present from birth even though the nevus may not be visible until later in life. The size, number, location, and severity of these malformations vary from person to person. Affected areas on the skin can be painful or tender to the touch and may be prone to sweating (hyperhidrosis). Nevi in the intestines can bleed spontaneously and cause anemia or more serious complications.
Cause[edit]
Currently the cause of blue rubber bleb syndrome is not known.
Inheritance[edit]
The syndrome is considered sporadic. Someone who is diagnosed with BRBNS likely has a family relative that has other multifocal venous malformations which is a symptom of the disease. Autosomal inheritance of BRBNS has been found in familial cases associated with chromosome 9p, but the majority of cases are sporadic. The disease correlates with an onset of GI complications. It is reported that GI bleeding is the most common cause of death in most cases.
Symptoms[edit]
Symptoms and severity of blue rubber bleb nevus syndrome varies greatly from person to person. In general, blue rubber bleb nevus syndrome is characterized by skin spots (nevi) that may be few to hundreds in number. Size tends varies from millimeters to several centimeters in length. These nevi are made of blood vessels and are spongy, meaning they can easily be pressed upon. When pressure is released, they refill with blood and regain their original shape. They tend to be blue but can vary in color and shape. The surface of the nevi may be smooth or wrinkled and they often have a rubbery feel. They do not tend to bleed spontaneously, but are fragile and will bleed if injured. They may be tender to the touch. They may also be associated with increased sweating in the area of the skin legions. The number and size of legions may worsen with advancing age. Nevi may also be found in the intestines (particularly the small intestine) in individuals with blue rubber bleb nevus syndrome. These nevi can bleed spontaneously causing anemia. Most bleeding from the gastrointestinal tract is slow; however, sudden quick bleeding (hemorrhage) is possible. Other serious complications of gastrointestinal legions may include intussusception, bowel infarction, and even death. Blue rubber bleb nevus syndrome can affect other body organs as well. Nevi have been reported in the skull, central nervous system, thyroid, parotid, eyes, mouth, lungs, pleura, pericardium, musculoskeletal system, peritoneal cavity, mesentery, kidney, liver, spleen, penis, vulva, and bladder. Nevi may also put pressure on joints, bones, or feet, which may make walking difficult or limit range of motion. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Arteriovenous malformation
- Bone pain
- Cavernous hemangioma(Collection of dilated blood vessels that forms mass)
- Prolonged bleeding time
- Skin rash
- Visceral angiomatosis
30%-79% of people have these symptoms
- Abnormality of coagulation
- Intestinal bleeding
- Subcutaneous nodule(Firm lump under the skin)
- Volvulus
5%-29% of people have these symptoms
- Gastrointestinal infarctions(Death of digestive organ tissue due to poor blood supply)
- Microcytic anemia
Diagnosis[edit]
Blue rubber bleb nevus syndrome is difficult to diagnose because of how rare the disease is. Diagnosing BRBNS is usually based on the presence of cutaneous lesions with or without gastrointestinal bleeding and/or involvement of other organs. Cutaneous angiomas are found on the surface of the skin and from the scalp to the soles of feet.The characteristics of the cutaneous lesions are rubbery, soft, tender and hemorrhagic, easily compressible and promptly refill after compression. A physical examination is mostly used to diagnosis cutaneous angiomas on the surface of the skin. Endoscopy has been the leading diagnostic tool for diagnosing BRBNS for those who suffer from lesions in the gastrointestinal tract. The GI tract is illuminated and visualized in endoscopy. Endoscopy also allows immediate therapeutic measures like argon plasma, coagulation, laser photocoagulation, sclerotherapy, or band ligation. Besides physical examination and endoscopy, ultrasonography, radiographic images, CT and magnetic resonance imaging are helpful for detection of affected visceral organs.
Treatment[edit]
Treatment of blue rubber bleb nevus syndrome varies depending on the severity and location of the affected areas. Skin spots do not usually require treatment, but some individuals with this condition may want treatment for cosmetic reasons or if the location of the nevus causes discomfort or affects normal function. Bleeding in the intestines may be treated with iron supplements and blood transfusions when necessary.Surgery to remove an affected area of bowel may be recommended for repeated or severe bleeding (hemorrhage).
| Tumours of blood vessels | ||||||
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NIH genetic and rare disease info[edit]
Blue rubber bleb nevus syndrome is a rare disease.
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Rare diseases - Blue rubber bleb nevus syndrome
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