Welcome to PhenoDis

Blue rubber bleb nevus

General Information (adopted from Orphanet):

Synonyms, Signs:	bean syndrome
Number of Symptoms	45
OrphanetNr:	1059
OMIM Id:	112200
ICD-10:	Q27.8
UMLs:	C0346072
MeSH:	C536240
MedDRA:
Snomed:	254784002

Prevalence, inheritance and age of onset:

Prevalence:	> 200 cases [Orphanet]
Inheritance:	Autosomal dominant [Orphanet]
Age of onset:	Childhood [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Genetic skin vascular disease
-Rare genetic disease
Genetic vascular anomaly
-Rare genetic disease
Inherited cancer-predisposing syndrome
-Rare genetic disease
-Rare oncologic disease
Skin vascular disease
-Rare skin disease
Venous malformation
-Rare circulatory system disease
-Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0005520)	Chronic disseminated intravascular coagulation		1 / 7739
2	(HPO:0002239)	Gastrointestinal hemorrhage	Frequent [Orphanet]	97 / 7739
3	(HPO:0002584)	Intestinal bleeding		16 / 7739
4	(HPO:0003010)	Prolonged bleeding time	Very frequent [Orphanet]	88 / 7739
5	(HPO:0001031)	Subcutaneous lipoma	Frequent [Orphanet]	112 / 7739
6	(HPO:0005244)	Gastrointestinal infarctions	Occasional [Orphanet]	14 / 7739
7	(HPO:0001928)	Abnormality of coagulation	Frequent [Orphanet]	44 / 7739
8	(HPO:0001891)	Iron deficiency anemia		22 / 7739
9	(HPO:0001935)	Microcytic anemia	Occasional [Orphanet]	32 / 7739
10	(HPO:0007129)	Cerebellar medulloblastoma		1 / 7739
11	(HPO:0002653)	Bone pain	Very frequent [Orphanet]	75 / 7739
12	(HPO:0002756)	Pathologic fracture		30 / 7739
13	(HPO:0002242)	Abnormality of the intestine	Occasional [Orphanet]	42 / 7739
14	(HPO:0002035)	Rectal prolapse		11 / 7739
15	(HPO:0002576)	Intussusception		10 / 7739
16	(HPO:0002580)	Volvulus	Frequent [Orphanet]	10 / 7739
17	(HPO:0001392)	Abnormality of the liver		28 / 7739
18	(HPO:0000153)	Abnormality of the mouth		60 / 7739
19	(HPO:0002086)	Abnormality of the respiratory system		17 / 7739
20	(HPO:0001034)	Hypermelanotic macule		22 / 7739
21	(HPO:0001028)	Hemangioma		23 / 7739
22	(HPO:0001048)	Cavernous hemangioma	Very frequent [Orphanet]	28 / 7739
23	(HPO:0100761)	Visceral angiomatosis	Very frequent [Orphanet]	21 / 7739
24	(HPO:0000988)	Skin rash	Very frequent [Orphanet]	98 / 7739
25	(HPO:0011276)	Vascular skin abnormality	Frequent [Orphanet]	24 / 7739
26	(HPO:0100026)	Arteriovenous malformation	Very frequent [Orphanet]	38 / 7739
27	(HPO:0001873)	Thrombocytopenia		224 / 7739
28	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
29	(MedDRA:10051474)	Phlebolith		1 / 7739
30	(OMIM)	CNS venous malformations		1 / 7739
31	(OMIM)	Coarsened trabeculae		1 / 7739
32	(OMIM)	Cortical remodeling		1 / 7739
33	(OMIM)	Hepatic venous malformations		1 / 7739
34	(OMIM)	Intestinal venous malformations		1 / 7739
35	(OMIM)	Limb bowing		1 / 7739
36	(OMIM)	Limb hypertrophy		1 / 7739
37	(OMIM)	Limb hypotrophy		1 / 7739
38	(OMIM)	Low flow state		1 / 7739
39	(OMIM)	Multiple, red-blue, soft, compressible vascular papules or macules (especially on trunk or upper arms)		1 / 7739
40	(OMIM)	Oral mucosa venous malformations		1 / 7739
41	(OMIM)	Pathologic fracture due to focal lytic defects		1 / 7739
42	(OMIM)	Polypoid filling defects seen on barium enema		1 / 7739
43	(OMIM)	Pulmonary venous malformations		1 / 7739
44	(OMIM)	Sinus pericranii (rare)		1 / 7739
45	(OMIM)	Thrombi		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Blue rubber bleb nevus is a bladderlike variety of hemangioma found particularly on the trunk and upper arms. Nocturnal pain and regional hyperhidrosis are features. Bleeding hemangiomas of the gastrointestinal tract are an important complication. Berlyne and Berlyne ... Blue rubber bleb nevus is a bladderlike variety of hemangioma found particularly on the trunk and upper arms. Nocturnal pain and regional hyperhidrosis are features. Bleeding hemangiomas of the gastrointestinal tract are an important complication. Berlyne and Berlyne (1960) demonstrated transmission through 5 generations. Other cases have been sporadic, perhaps new dominant mutations. Bean (1958) gave the name to this condition which, furthermore, he was mainly instrumental in delineating. Rice and Fischer (1962) observed the association of cerebellar medulloblastoma. They illustrated the extraordinary appearance of the skin lesions. Intestinal hemangiomas were found at autopsy. Fretzin and Potter (1965) described a particularly dramatic case with involvement of the skin and gastrointestinal tract and angiomatous gigantism of the right arm requiring amputation in infancy. In a single case in a Japanese woman, Sakurane et al. (1967) described cavernous hemangiomas characteristic of blue rubber bleb nevi over the entire surface of the body and in the mucosa of the oropharynx, esophagus, distal ileum and anus. In addition the patient had multiple enchondromatosis. This, then, had many of the features of Maffucci syndrome (614569). Munkvad (1983) reported a family with 7 affected persons in 3 generations, including father-to-son transmission. The skin lesions are rubberlike nipples, easily compressible and promptly refilling after compression. They vary in color, size, shape and number and may be tender. The affected persons in Munkvad's pedigree had no evidence of visceral abnormality. Satya-Murti et al. (1986) described a 19-year-old man with extensive central nervous system involvement who had a chronic, slowly progressive, and nonfatal course. See 600195 for a familial venous malformation syndrome (VMCM) that may be the same as the blue rubber bleb nevus syndrome of Bean (1958) and is caused by mutation in the TEK gene (600221). Gallione et al. (1995) suggested that VMCM is identical to the Bean syndrome. Several members of the family they studied had gastrointestinal bleeding from vascular lesions as did the family originally described by Bean (1958). Ertem et al. (2001) described a 6-year-old boy with blue rubber bleb nevus syndrome who had multiple venous malformations all over his body. He also suffered from several episodes of melena, chronic anemia, and growth retardation. Endoscopic examination of the gastrointestinal tract revealed multiple bluish-black sessile and polypoid venous malformations of various sizes.

Symptoms & Signs

	Field	Query
	Disease
	Symptom