Multiple Blue-Coloured Nodules on the Whole Body
Year: 2025
Type: article
Study design: Case Report
Abstract: A 55-year-old man presented with asymptomatic multiple dark bluish nodules on his whole body for 20 years [Figure 1a-c]. The nodules have increased in size and number over the years. A skin punch biopsy of a large nodule on his left lower leg revealed proliferative, irregularly dilated venous vessels filled with red blood cells and lined by a single layer of flat endothelial cells [Figure 2a and b]. An excisional biopsy of a large nodule on his left lower leg showed histological findings consistent with the punch biopsy. Laboratory findings revealed a lower level of haemoglobin (11.3 g/dL; normal range 13.0–18.0 g/dL), and further evaluation confirmed a diagnosis of chronic iron deficiency anaemia. A computed tomographic scan of the chest, abdomen, pelvis, and lower extremities showed multiple lesions of cavernous malformation in the liver [Figure 3a]. Magnetic resonance imaging of the brain showed multiple lesions of cavernous malformation in the brain [Figure 3b]. There were no further radiological pieces of evidence suggesting evident cavernous malformation in other visceral organs.Figure 1: (a) A 55-year-old man presented with asymptomatic multiple dark bluish nodules on the whole body for 20 years (trunk, marked by black arrow). (b) A 55-year-old man presented with asymptomatic multiple dark bluish nodules on the whole body for 20 years (arms, marked by black arrow). (c) A 55-year-old man presented with asymptomatic multiple dark bluish nodules on the whole body for 20 years (legs, marked by black arrow)Figure 2: (a) Skin punch biopsy of a large nodule on the left lower leg revealed proliferative, irregularly dilated venous vessels filled with red blood cells and lined by single flat endothelial cells (H and E, ×40). (b) Skin punch biopsy of a large nodule on the left lower leg revealed proliferative, irregularly dilated venous vessels filled with red blood cells and lined by single flat endothelial cells (H and E, ×100)Figure 3: (a) Computed tomographic scan of the chest, abdomen, pelvis, and lower extremities regions showed multiple lesions of cavernous malformation in the liver (marked by white arrow). (b) Magnetic resonance imaging of the brain showed multiple lesions of cavernous malformation in the brain (marked by white arrow)What is your diagnosis? Options: Melanocytic nevus Blue nevus Blue rubber bleb nevus syndrome Traumatic tattoo Venous lake Answer: Blue rubber bleb nevus syndrome Discussion Blue rubber bleb nevus syndrome (BRBNS), also known as Bean syndrome, is a rare, non-inherited disorder characterized by multiple lesions of venous malformations and haemangiomas involving the skin and visceral organs, most frequently the gastrointestinal tract.[1,2] Retrospective analysis of organ involvement in patients with BRBNS from reported literature found that the most frequent site was the skin (93%), followed by the gastrointestinal tract (76%), central nervous system (13%), liver (11%), and muscles (9%), and that the involvement of various organs was common in a single patient (87%).[2] The pathogenesis of BRBNS is uncertain, and the majority of cases appear to be sporadic despite several familial cases of autosomal dominant inheritance.[3] Recent genetic studies revealed that BRBNS may be caused by somatic mutations in TEK, the gene encoding TIE2.[1] Cutaneous lesions are generally small, measuring less than 1–2 cm, blue to purple in colour, and compressible, whereas gastrointestinal lesions are usually pathognomonic with various morphologies, including nodular, sessile, pedunculated, or ulcerated, and commonly located in the small intestine.[3] Endoscopy, including gastroscopy, colonoscopy, and capsule endoscopy, is the first-line diagnostic tool to completely screen the gastrointestinal involvement of BRBNS.[3] In our case, we recommended endoscopy; however, the patient refused further evaluations. Skin lesions are usually asymptomatic and seldom treated unless they are cosmetically unacceptable or functionally troublesome; however, the involvement of other visceral organs may cause chronic iron deficiency anaemia and serious complications, such as gastrointestinal bleeding and cerebral haemorrhage.[4] Histological examination shows cavernous venous dilatations, with a thin wall of smooth muscle cells lined by a simple layer of endothelial cells, although biopsy is not routinely necessary because the diagnosis of BRBNS can be made by visual inspection of the skin lesions and by endoscopy of the gastrointestinal tract.[2] Our patient showed sporadically occurring multiple lesions of venous malformations involving the skin, liver, and brain, consistent with the diagnosis of BRBNS. In patients with multiple large bluish nodules on the whole body, dermatologists should be aware of the diagnosis of BRBNS and should perform radiological and endoscopic examinations of visceral organs. Learning points BRBNS is a rare, non-inherited disorder characterized by multiple lesions of venous malformations. Reported frequency of organ involvement: skin (93%), gastrointestinal tract (76%), central nervous system (13%), liver (11%), and muscles (9%). Cutaneous lesions are generally small blue to purple in colour, and compressible, whereas gastrointestinal lesions are usually pathognomonic with various morphologies. In patients with multiple large bluish nodules on the whole body, dermatologists should be aware of the diagnosis of BRBNS and should perform radiological and endoscopic examinations of visceral organs. Financial support and sponsorship Nil. Conflict of interest Nil.
Source: Indian Journal of Dermatology
Authors: Kyung Ho Lee, Joo Ho Jeong, Chul Jong Park, Yoon-Seob Kim
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7110378768