Blue rubber bleb nevus syndrome

Also known as: Bean syndrome

Multifocal venous malformations of skin and gastrointestinal tract.

Medical specialty: Dermatology
Subspecialty: Dermatology / Vascular anomalies
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, lesions at birth or early childhood
Gene(s) involved: TEK

Etiology & mechanism

Somatic TEK (TIE2) mutations.

Gene(s) involved (1)

TEK

Symptoms & signs (5)

blue rubbery nodulescoagulopathygastrointestinal bleedingiron deficiency anemiapain

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.