Blue Nevus Research Articles

Focal melanocytic lesions of the oral mucosa: An epidemiological and morphological study.

This study aimed to analyse the clinical and histopathological characteristics of focal oral melanocytic lesions in a Brazilian reference service in Oral and Maxillofacial Pathology. A cross-sectional study was conducted over an 18-year period. Demographic data and clinical features were collected from the archives, and all biopsy specimens diagnosed as oral melanocytic lesions were retrieved and reviewed. We identified 339 melanocytic lesions. Of these, 191 were melanotic macules, 112 melanocytic nevi, 14 mucosal lentigo simplex, 12 melanomas, 9 solar lentigos, and 1 melanoacanthoma. Lesions occurred mostly in white-skinned (74.2%) women (65.2%). The main reported clinical aspect was the macule (67.4%), and the most affected site was the lip vermilion (25.4%), followed by the palate (22.9%). Melanomas were larger in size and were observed in older patients with an overall shorter time of onset. The most frequent subtypes of melanocytic nevi were intramucosal (44.6%), compound (24.1%), and blue nevus (20.5%). They showed a heterogeneous architectural pattern with the presence of the three cell types. The most frequent lesions are melanotic macule and nevus, especially the intramucosal subtype. Patients are usually white-skinned women presenting a small, long-lasting, macular lesion on the lip vermilion or palate.

Oral Mucosal Lesions - A Study of 369 Cases.

Diagnosing and treating oral cavity lesions is a challenging task for most of the clinicians due to similar symptoms and clinical appearances. Frequently, histopathology and immunohistochemistry aid in making the diagnosis. The objectives were to describe the clinical features, and histopathological features and systemic association in patients with oral mucosal lesions (OML). A cross-sectional descriptive study was undertaken at a tertiary care centre in patients with OML. A total of 369 cases with OML were included in the study. Males constituted 61.78% of the cases. History of habits such as tobacco, gutka chewing, smoking, and alcohol was given by 32.25%, 29.81%, 26.56%, and 11.38% of cases, respectively. Common symptoms were soreness, burning sensation, oral pain and ulcers. Both oral and cutaneous involvement was seen in 17.89% of cases. Oral lichen planus (oral LP) constituted largest group of patients (21.96%) wherein reticulate type was the most frequent type and buccal mucosa was the commonest site. Oral carcinomas constituted 20.33% of cases followed by infective etiology (11.92%), vesiculobullous group of diseases (10.30%), aphthous stomatitis (8.94%), premalignant lesions (7.05%) such as leukoplakia (3.80%) and submucous fibrosis (2.44%). Histopathology was done in 209 cases. Clinico-histopathological correlation was seen in oral LP (90.27%), oral pemphigus (82.35%), and malignancies (98.66%). Oral LP formed the largest group of cases followed by Oral squamous cell carcinoma (SCC). Several rare conditions, such as Melkersson-Rosenthal syndrome and blue rubber bleb nevus syndrome were also a part of the study. Thorough clinical and histopathological examination in this diverse group of diseases clinches the diagnosis.

A Large Disabling Intramuscular Venolymphatic Malformation in Blue Rubber Bleb Nevus Syndrome with Review of Literature.

A Large Disabling Intramuscular Venolymphatic Malformation in Blue Rubber Bleb Nevus Syndrome with Review of Literature.

Next-generation Sequencing as a Potential Diagnostic Adjunct in Distinguishing Between Desmoplastic Melanocytic Neoplasms.

Desmoplastic melanomas (DMs) are often challenging to diagnose and ancillary tests, such as immunohistochemistry, have limitations. One challenge is distinguishing DM from benign desmoplastic melanocytic neoplasms. In this study, we explored the utility of next-generation sequencing data in the diagnosis of DMs versus desmoplastic Spitz nevi (DSN) and desmoplastic nevi (DN). We sequenced 47 cases and retrieved 12 additional previously sequenced clinical cases from our dermatopathology database. The 59 total cases were comprised of 21 DMs, 25 DSN, and 13 DN. The DMs had the highest tumor mutation burden at 22 mutations/megabase (m/Mb) versus the DSN (6m/Mb) and DN (8m/Mb). Truncating mutations in NF1 resulting in a loss-of-function were exclusive to the DM cohort, identified in 8/21 (38%) cases. Importantly, missense mutations in NF1 were nonspecific and seen with similar frequency in the different cohorts. Other mutations exclusive to the DMs included truncating mutations in TP53 , CDKN2A , and ARID2 . Among the DSN, 17/25 (68%) had an HRAS mutation or receptor tyrosine kinase fusion consistent with other Spitz tumors. Two cases in the DN cohort had missense mutations in BRAF without additional progression mutations and 2 other cases had mutations in GNAQ , supporting a diagnosis of a sclerosing blue nevus. The remainder of the DN had nonspecific mutations in various signaling pathways with few progression mutations. Overall, our study provides preliminary data that next-generation sequencing data may have the potential to serve as an ancillary diagnostic tool to help differentiate malignant and benign desmoplastic melanocytic neoplasms.

Recurrence of a Cellular Blue Nevus with Satellitosis-A Diagnostic Pitfall with Clinical Consequences.

Blue nevus is a benign melanocytic lesion, typically asymptomatic and of unknown etiology. Several histologic and clinical variants have been distinguished, the most frequent being common blue nevus, cellular blue nevus, and combined blue nevus. Although melanocytic nevi with a satellite lesion are usually suggestive of locally advanced malignant melanoma, very few cases of blue nevi with satellite lesions have been reported. The diagnosis of common or cellular blue nevi is generally straightforward; however, the presence of structures such as irregular edges or satellitosis are highly suggestive for malignancy, and differential diagnoses such as locally advanced malignant melanoma and malignant blue nevus should be considered. Recurrent blue nevi can display atypical features not seen in the primary lesion, such as pleomorphism and mitotic activity. They usually tend to follow a benign course; however, in some cases, recurrence may indicate malignant transformation. We here report the unique case of a 64-year-old woman with a recurrent cellular blue nevus accompanied by satellite lesions. Such a biological behavior resulting in a clinical presentation as a melanoma-like lesion is a rarity in blue nevus and has not been described before.

Blue Rubber Bleb Nevus Syndrome As a Rare Cause of Severe Anemia: Clinical Presentation, Treatment, and Outcomes in 55 Patients

Purpose: To describe the clinical presentation, management approach, and outcomes of patients with Blue Rubber Bleb Nevus Syndrome Background: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare, congenital vascular malformation syndrome characterized by multifocal venous malformations involving the skin, gastrointestinal (GI) tract, and/or soft tissues. Severe iron deficiency anemia from GI bleeding is a frequent complication and patients experience significant transfusion burden. Iron supplementation and packed red blood cell transfusions are mainstays of supportive care in BRBNS. Although surgical resection, sclerotherapy, and medical therapy have been used to treat this disorder, prior data on the relative use of these treatment modalities and clinical response has been limited to single case reports or small (10 patients or fewer) case series. Methods: A single-institution, retrospective review of 55 patients diagnosed with BRBNS was conducted. Data regarding demographics, clinical presentation, treatment, and response were collected. Results: A total of 55 patients presenting to our Vascular Anomalies Center between 1993 and 2020 were evaluated. Overall, 91% of patients presented with a skin or soft tissue lesion, while 9% presented with anemia or GI bleeding. Patients were referred to our center by pediatricians (34%), gastroenterologists (19%), dermatologists (19%), or surgeons (19%). The median patient age at BRBNS diagnosis was 5 years (range: birth - 22 years). Most cases involved lesions of the skin (93%), GI tract (87%), or soft tissue (75%). GI involvement included the colon (75%), stomach (69%), small bowel (56%), duodenum (48%), esophagus (21%), and rectum (17%). Microcytic anemia (Hb < 2.5th percentile for age and MCV <2.5th percentile for age) was present in 82% of patients, with a median nadir hemoglobin concentration of 5.9 g/dL (range: 2 - 12 g/dL). Of the 55 total patients, 43 (78%) of all patients required packed red blood cell transfusions, with an average number of 31 transfusions per patient. Patients underwent sclerotherapy (91%), surgical resection of skin or soft tissue lesions (84%), surgical resection of GI lesions (58%), or endoscopic (cautery, band ligation) treatment of GI lesions (26%). After resection of GI lesions, 84% of had complete resolution of their symptoms. Fifteen patients (27%) received medical therapy with sirolimus, an mTOR inhibitor; 80% of those patients demonstrated response defined by improvement in anemia, improvement in GI bleeding, and/or diminished pain. Ninety percent of patients received more than one type of therapy. The median follow-up period for the cohort was 7.8 years. Conclusion: BRBNS patients have widespread distribution of their lesions, including diffuse involvement of the GI tract. Many patients experience severe and often life-threatening anemia, often requiring significant transfusion support. A combination of surgical, medical, and interventional approaches is effective in treating BRNBS. In some cases, patients had complete resolution of their symptoms after surgical resection or medical therapy. Given the need for specific treatment, increased recognition of BRBNS by hematologists and referral to a center with expertise in vascular anomalies is important for optimizing outcomes for patients with this rare disorder. Figure 1View largeDownload PPTFigure 1View largeDownload PPT Close modal

Eradication of angiomas by nylon loop snare ligation under total enteroscopy, in disseminated intravascular coagulation associated with blue rubber bleb nevus syndrome.

Eradication of angiomas by nylon loop snare ligation under total enteroscopy, in disseminated intravascular coagulation associated with blue rubber bleb nevus syndrome.

Surgical treatment and pneumatic reduction for intussusception in a pediatric patient with blue rubber bleb nevus syndrome

Blue rubber bleb nevus syndrome is a congenital disorder characterized by the presence of venous malformations in the skin and gastrointestinal tract. On rare occasions, these venous malformations can cause intussusception. We present a case of a child known with Bean syndrome who arrived with intestinal occlusion requiring emergency laparotomy. Surgical findings included four intussusception zones through the jejunum and ileum, meriting ileum resection and primary anastomosis. During the next month he presented on two occasions with intussusception symptoms, requiring fluoroscopy-guided pneumatic reduction.

Vascular Anomaly Syndromes in the ISSVA Classification System: Imaging Findings and Role of Interventional Radiology in Management.

Vascular anomalies encompass a spectrum of tumors and malformations that can cause significant morbidity and mortality in children and adults. Use of the International Society for the Study of Vascular Anomalies (ISSVA) classification system is strongly recommended for consistency. Vascular anomalies can occur in isolation or in association with clinical syndromes that involve complex multifocal lesions affecting different organ systems. Thus, it is critical to be familiar with the differences and similarities among vascular anomalies to guide selection of the appropriate imaging studies and possible interventions. Syndromes associated with simple vascular malformations include hereditary hemorrhagic telangiectasia, blue rubber bleb nevus syndrome, Gorham-Stout disease, and primary lymphedema. Syndromes categorized as vascular malformations associated with other anomalies include Klippel-Trenaunay-Weber syndrome, Parkes Weber syndrome, Servelle-Martorell syndrome, Maffucci syndrome, macrocephaly-capillary malformation, CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and scoliosis, skeletal, and spinal anomalies) syndrome, Proteus syndrome, Bannayan-Riley-Ruvalcaba syndrome, and CLAPO (capillary malformations of the lower lip, lymphatic malformations of the face and neck, asymmetry of the face and limbs, and partial or generalized overgrowth) syndrome. With PHACES (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects and/or coarctation of the aorta, eye abnormalities, and sternal clefting or supraumbilical raphe) syndrome, infantile hemangiomas associated with other lesions occur. Diagnostic and interventional radiologists have important roles in diagnosing these conditions and administering image-guided therapies-embolization and sclerotherapy, and different ablation procedures in particular. The key imaging features of vascular anomaly syndromes based on the 2018 ISSVA classification system and the role of interventional radiology in the management of these syndromes are reviewed. Online supplemental material is available for this article. ©RSNA, 2022.

S2589 Endoscopic Approaches to the Management of Blue Rubber Bleb Nevus Syndrome

S2589 Endoscopic Approaches to the Management of Blue Rubber Bleb Nevus Syndrome

The coincidence of Abernethy malformation and blue rubber bleb nevus syndrome: A case report

The coincidence of Abernethy malformation and blue rubber bleb nevus syndrome: A case report

S2677 A Case of Blue Rubber Bleb Nevus Syndrome in an Elderly Patient

Introduction: Blue Rubber Bleb Nevus Syndrome (BRBNS) is an uncommon disorder with only about 200 cases reported worldwide. It is defined by the formation of soft rubbery venous blebs that mostly involve the skin, gastrointestinal (GI) tract, central nervous system, spleen and other visceral organs. BRBNS is mostly diagnosed in children with only 4% incidence noted in adult age groups. Herein we describe the case of the oldest reported individual newly diagnosed with BRBNS who was a 90 year-old lady presenting with small bowel bleeding. Case Description/Methods: A 90-year-old woman with history of atrial fibrillation on apixaban presented to the emergency room with a few week history of melena. Vital signs were significant for tachycardia with a heart rate of 110 beats/min. Physical exam showed pale conjunctiva with no noted cutaneous lesions. Laboratory tests were significant for a hemoglobin of 7.2 g/dL down from a normal baseline (normal range 12-16 g/dL). Upper endoscopy showed non bleeding submucosal venous structures in the esophagus and duodenum (panel A, B). Colonoscopy showed coffee ground blood with no noted source of bleeding. Capsule endoscopy revealed numerous venous structures in the small bowel with active oozing in the jejunal loops suggestive of BRBNS (panel C). A single-balloon assisted deep enteroscopy was offered to attempt to control the bleeding however the patient preferred to avoid any further endoscopic or surgical interventions and chose to receive palliative care. (Figure) Discussion: Most BRBNS cases are sporadic however inheritance through autosomal dominance fashion via TEK gene mutations have been reported in a minority of cases. GI involvement by BRBNS usually manifests as GI bleeding that can range from a chronic slow rate to a massive and life-threatening hemorrhage. Presentation with bowel volvulus, intussusception, infarction and gangrene have been reported. Direct examination through endoscopic visualization is the diagnostic and potentially therapeutic intervention of choice. Management depends on the initial presenting symptoms and extent of involved areas and include iron supplementation, blood transfusion and endoscopic control of bleeding. Surgical resection of affected bowel loops is reserved for complicated and refractory cases. Ongoing clinical trials evaluating the efficacy and safety of sirolimus, interferon-beta and octreotide are underway for the management of complex cases. Recurrence is common and no curative treatment is currently available.Figure 1.: Panel A: Upper endoscopy showing non-bleeding venous structures in the esophagus. Panel B: Upper endoscopy showing non-bleeding venous structures in the duodenum. Panel C: Capsule endoscopy revealing numerous venous structures in the small bowel.

Three-dimensional representation of triple spectral line imaging data as an option for noncontact skin diagnostics

.Significance Skin malformations in dermatology are mostly evaluated subjectively, based on a doctor’s experience and visual perception; an option for objective quantitative skin assessment is camera-based spectrally selective diagnostics. Multispectral imaging is a technique capable to provide information about concentrations of the absorbing chromophores and their distribution over the malformation in a noncontact way. Conversion of spectral images into distribution maps of chromophores can be performed by means of the modified Beer–Lambert law. However, such distribution maps represent only single specific cases, therefore, some extensive method for data comparison is needed.Aim This study aims to develop a more informative approach for identification and characterization of skin malformations using three-dimensional (3D) representation of triple spectral line imaging data.Approach The 3D-representation method is experimentally tested on eight different skin pathology types, including both benign and malignant pathologies; an imaging device ensuring uniform three laser line (448, 532, and 659 nm) illumination is used. Three spectral line images are extracted from a single snapshot RGB image data, with subsequent calculation of attenuation coefficients for each working wavelength at every image pixel and represented as 3D graphs. Skin chromophore content variations in malformations are represented in a similar way.ResultsClinical measurement results for 99 skin pathologies, including basal cell carcinomas, melanoma, dermal nevi, combined nevi, junctional nevi, blue nevi, seborrheic keratosis, and hemangiomas. They are presented as 3D spectral attenuation maps exhibiting specific individual features for each group of pathologies. Along with intensity attenuation maps, 3D maps for content variations of three main skin chromophores (melanin, oxyhemoglobin, and deoxyhemoglobin), calculated in frame of a model based on modified Beer–Lambert law, are also presented. Advantages and disadvantages of the proposed data representation method are discussed.ConclusionsThe described 3D-representation method of triple spectral line imaging data shows promising potential for objective quantitative noncontact diagnosis of skin pathologies.

Sirolimus for management of GI bleeding in blue rubber bleb nevus syndrome: A case series.

Blue rubber bleb nevus syndrome (BRBNS) commonly presents with anemia from bleeding gastrointestinal (GI) vascular malformations. Management is highly variable, as no consensus guidelines for medical treatment currently exist. Sirolimus has been used in BRBNS to decrease GI bleeding and seems well tolerated, though questions remain regarding dosing, duration of therapy, and adverse effects. Here, we report our single-center experience of four pediatric patients with BRBNS who were successfully treated with sirolimus and review the existing literature regarding sirolimus for treatment of GI bleeding in BRBNS. Further prospective studies are needed to establish optimal dosage, drug monitoring, and duration.

Cerebrospinal fluid leak in epidural venous malformations and blue rubber bleb nevus syndrome.

Clinical manifestations of blue rubber bleb nevus syndrome (BRBNS) and multifocal venous malformation (MVM) vary depending on the location of the lesions. The aim of this study was to assess the risk of developing CSF leaks in patients with epidural venous malformations (VMs). The authors retrospectively investigated the relationship between the development of a CSF leak and the presence of epidural VMs. Nine patients (5 females) had epidural VMs and presentation that was confirmatory or suggestive of a CSF leak: 4 had BRBNS, 4 had MVMs, and 1 had a solitary VM. Of 66 patients with BRBNS, clinical and imaging features of CSF leak were noted in 3 (4.5%) with epidural VMs at the age of 11-44 years. A fourth patient had suggestive symptoms without imaging confirmation. An epidural blood patch was ineffective in 2 patients, both with more than one source of leakage, requiring surgical repair or decompression. Symptomatic downward displacement of the cerebellar tonsils was noted in 3 patients with MVM and 1 with a solitary VM; 3 required surgical decompression. These findings suggest an increased risk of CSF leak in patients with epidural VM, including BRBNS, MVMs, and solitary VMs. Awareness of the association between epidural VM and CSF leakage may facilitate earlier diagnosis and therapeutic intervention.

Underwater endoscopic mucosal resection of colon hemangiomas compatible with the blue rubber bleb nevus syndrome, following endoscopic ultrasonography.

Underwater endoscopic mucosal resection of colon hemangiomas compatible with the blue rubber bleb nevus syndrome, following endoscopic ultrasonography.

What could this dark lesion on a woman’s eyelid be?

What could this dark lesion on a woman’s eyelid be?

Blue rubber bleb naevus syndrome: a rare presentation of vascular disorder

Blue rubber bleb naevus syndrome (BRBNS) is a rare syndrome of AV malformation which mainly involves skin, soft tissue, gastrointestinal tract and other parts of the body. Its occurrence is usually sporadic, although cases of autosomal dominant inheritance is reported. At presentation symptoms depend on the organs involved. Patients may present with acute or chronic gastrointestinal bleed and it usually seen in children and rarely in adults. We herein reported a rare case of BRBNS in 17 years old male patient who suffered from Malena for four years with past history of haemangioma excision on back. Patient was on regular blood transfusion for six months. Endoscopy revealed multiple AV malformation in gastrointestinal tract. Patient underwent laparotomy with resection of involved segments of ileum with primary end to end anastomosis. Post-operative recovery was uneventful. So here we can conclude that the definitive management of BRBNS affecting the gastrointestinal tract is excision. This article was an original case review of management of BRBNS. The clinical presentation, required investigations and management of the same.

Application of the Method of Melanin Bleaching After Immunohistochemical Staining of Melanin-containing Tissues.

The purpose of this research was to investigate the method of melanin bleaching in immunohistochemical staining of melanin-containing tissues. Forty melanin-containing tissue samples were selected, including 30 with malignant melanoma and 10 with blue naevi. The samples were divided into the following 3 groups: the prestaining bleaching group, nonbleaching group, and poststaining bleaching group. Each group was subjected to HMB45 and MelanA immunohistochemical staining. The detection system used was Roche ventana ultraview universal alkaline phosphatase red kit. In the prestaining bleaching group, melanin pigment was mostly removed. However, antigen expression was also affected, which resulted in significantly weaker positive staining and even represented false-negative expression. In the nonbleaching group, positive staining resulted in a red color that could easily be distinguished from the brown granules of melanin pigment. However, some melanin granules covered the tissue, impacting our observation of tissue structure. In the poststaining bleaching group, the results of positive staining were comparable to those in the nonbleaching group. The melanin pigment in these sections was almost completely removed, resulting in clearer staining and easier observation of tissue and cell structure. The method of melanin bleaching after immunohistochemical staining of melanin-containing tissue can almost completely bleach the melanin pigment and do not impact the expression of antigen. In our work, poststaining bleaching allowed for clearer immunohistochemical staining results and more obvious observation of tissue structure. This method also has the advantages of requiring simple reagents, utilizing simple operation procedures, and producing practical staining results, which makes it worthy of promotion!

Pigmented Epithelioid Melanocytoma

Blue nevi are a group of congenital or acquired benign dermal melanocytic tumors. Various clinical and histological variants have been described. Epithelioid blue nevus (EBN), an uncommon variant may present as blue gray nodule over trunk, extremities which might occur either sporadically or in association with Carney complex. Due to clinical and histological overlap with other pigmented melanocytic lesions clinicopathological correlation is essential. We report a case of epithelioid blue nevus on dorsum of right foot in a 22-year-old man.