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JAAD Case Reports May 2019
PubMed: 31193001
DOI: 10.1016/j.jdcr.2019.03.022 -
Modern Pathology : An Official Journal... Feb 2006A potential diagnostic pitfall in the histologic assessment of melanoma is the inability to recognize unusual melanoma variants. Of these, the more treacherous examples... (Review)
Review
A potential diagnostic pitfall in the histologic assessment of melanoma is the inability to recognize unusual melanoma variants. Of these, the more treacherous examples include the desmoplastic melanoma, the nevoid melanoma, the so-called 'minimal-deviation melanoma,' melanoma with prominent pigment synthesis or 'animal-type melanoma,' and the malignant blue nevus. Also problematic are the unusual phenotypic profiles seen in vertical growth phase melanomas; these include those tumors whose morphological peculiarities mimic cancers of nonmelanocytic lineage and those melanomas that express aberrant antigenic profiles not commonly associated with a melanocytic histogenesis. Metaplastic change in melanoma, balloon cell melanoma, signet-ring cell melanoma, myxoid melanoma, small cell melanoma and rhabdoid melanoma all have the potential to mimic metastatic and primary neoplasms of different lineage derivations. Abnormal immunohistochemical expression of CD 34, cytokeratins, epithelial membrane antigen, and smooth muscle markers as well as the deficient expression of S100 protein and melanocyte lineage-specific markers such as GP100 protein (ie HMB-45 antibody) and A103 (ie Melan-A) also present confusing diagnostic challenges. In this review, we will discuss in some detail certain of these novel clinicopathologic types of melanoma, as well as the abnormal phenotypic expressions seen in vertical growth phase melanoma.
Topics: Antigens, Neoplasm; Diagnosis, Differential; Humans; Immunohistochemistry; Ki-67 Antigen; MART-1 Antigen; Melanocytes; Melanoma; Melanoma-Specific Antigens; Mucin-1; Neoplasm Proteins; S100 Proteins; Skin; Skin Neoplasms
PubMed: 16446716
DOI: 10.1038/modpathol.3800516 -
Revista Espanola de Enfermedades... Apr 2022Bean syndrome or blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by venous malformations (VM) of the skin, soft tissues and visceral organs, most...
Bean syndrome or blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by venous malformations (VM) of the skin, soft tissues and visceral organs, most frequently affecting the gastrointestinal (GI) tract. BRBNS is mainly sporadic but can be inherited in an autosomal pattern. The most common symptoms are GI bleeding and secondary iron deficiency anemia. Treatment is largely symptomatic.
Topics: Anemia; Gastrointestinal Neoplasms; Humans; Nevus, Blue; Skin Neoplasms
PubMed: 34991326
DOI: 10.17235/reed.2021.8522/2021 -
Radiology Case Reports Aug 2021Blue Rubber Bleb Nevus Syndrome, is a rare condition characterized by skin lesions caused by vascular malformations most frequently associated with lesions of the...
Blue Rubber Bleb Nevus Syndrome, is a rare condition characterized by skin lesions caused by vascular malformations most frequently associated with lesions of the gastrointestinal tract, although rare, it can present with lesions in the central nervous system, thyroid, liver, spleen and lungs; common symptoms are: digestive tract bleeding and iron deficiency anemia. The main manifestation are skin lesions that are characterized by being button-like, with a bluish tint, covered by skin, called blue nevus with a rubbery consistency due to its rubber-like consistency. We present a case of Blue Rubber Bleb Nevus Syndrome with involvement in the central nervous and gastrointestinal systems.
PubMed: 34158881
DOI: 10.1016/j.radcr.2021.04.086 -
Radiologia 2019Vascular malformations and tumors, also known as "vascular anomalies", comprise an extensive variety of lesions involving all parts of the body. Due to a lack of a... (Review)
Review
Vascular malformations and tumors, also known as "vascular anomalies", comprise an extensive variety of lesions involving all parts of the body. Due to a lack of a complete understanding of the origin and histopathology of such lesions, this field has been traditionally obscured by the use of an unclear nomenclature. Knowledge of the classification and clinical and imaging characteristics of this group of lesions is paramount when managing these patients. The objective of this series of two articles is to review the current classification of vascular anomalies, to describe the role of imaging in their diagnosis, to summarize their distinctive histopathologic, clinical and imaging features, and to discuss the treatment options. High-flow lesions were discussed in the first article of this series. In this second article, we will focus on low-flow lesions, including complex syndromes with associated low-flow malformations.
Topics: Adipose Tissue; Humans; Klippel-Trenaunay-Weber Syndrome; Lymphatic System; Nevus, Blue; Port-Wine Stain; Proteus Syndrome; Regional Blood Flow; Skin Neoplasms; Soft Tissue Neoplasms; Sturge-Weber Syndrome; Vascular Malformations; Veins
PubMed: 30292466
DOI: 10.1016/j.rx.2018.02.012 -
Annals of Vascular Diseases Sep 2021A 54-year-old Japanese man was diagnosed with blue rubber bleb nevus syndrome (BRBNS) due to venodilation in the lower extremities at birth and gastrointestinal vascular...
A 54-year-old Japanese man was diagnosed with blue rubber bleb nevus syndrome (BRBNS) due to venodilation in the lower extremities at birth and gastrointestinal vascular malformations. He also had small bowel bleeding and enhanced-fibrinolytic-type disseminated intravascular coagulation (DIC). Endoscopic sclerotherapy for intestinal hemangioma could not be performed because of bleeding concerns; instead, a combined anticoagulant and antifibrinolytic treatment was performed. Although combination treatment with unfractionated heparin and tranexamic acid proved ineffective for small bowel bleeding, combination treatment with apixaban and tranexamic acid dramatically improved enhanced-fibrinolytic-type DIC. In BRBNS, treatment strategies should be considered after performing detailed coagulation tests.
PubMed: 34630768
DOI: 10.3400/avd.cr.20-00148 -
Medicina Oral, Patologia Oral Y Cirugia... Nov 2012Diagnosis of pigmented lesions of the oral cavity and perioral tissues is challenging. Even though epidemiology may be of some help in orientating the clinician and even... (Review)
Review
Diagnosis of pigmented lesions of the oral cavity and perioral tissues is challenging. Even though epidemiology may be of some help in orientating the clinician and even though some lesions may confidently be diagnosed on clinical grounds alone, the definitive diagnosis usually requires histopathologic evaluation. Oral pigmentation can be physiological or pathological, and exogenous or endogenous. Color, location, distribution, and duration as well as drugs use, family history, and change in pattern are important for the differential diagnosis. Dark or black pigmented lesions can be focal, multifocal or diffuse macules, including entities such as racial pigmentation, melanotic macule, melanocytic nevus, blue nevus, smoker's melanosis, oral melanoacanthoma, pigmentation by foreign bodies or induced by drugs, Peutz-Jeghers syndrome, Addison's disease and oral melanoma. The aim of this review is to present the main oral black lesions contributing to better approach of the patients.
Topics: Humans; Hyperpigmentation; Mouth Diseases
PubMed: 22549672
DOI: 10.4317/medoral.17679 -
Anesthesiology Dec 2018
Topics: Airway Management; Anesthesia; Gastrointestinal Neoplasms; Humans; Nevus, Blue; Skin Neoplasms
PubMed: 30192241
DOI: 10.1097/ALN.0000000000002414 -
Investigative Ophthalmology & Visual... Jan 2018To evaluate BRAF, NRAS, and GNAQ mutations in surgical specimens of common and blue conjunctival melanocytic nevi.
PURPOSE
To evaluate BRAF, NRAS, and GNAQ mutations in surgical specimens of common and blue conjunctival melanocytic nevi.
METHODS
Surgical specimens from 25 conjunctival melanocytic nevi (23 common and 2 blue) of 25 patients were evaluated. All common nevi were analyzed immunohistochemically for the expression of BRAF V600E or NRAS Q61R. One lesion with negative immunoreactivity and for all blue nevi, a hybridization capture-based next-generation sequencing method was employed for mutation analysis. For common nevi, genetic features were compared with clinical and histopathologic findings. Continuous variables (age at excision and largest basal diameter) were compared with a Students's t-test and all categoric variables were compared with Fisher's Exact Test.
RESULTS
Of common melanocytic nevi, 9 (39.1%) were immunoreactive for NRASQ61R and 13 (56.5%) were immunoreactive for BRAFV600E. One common nevus, which was immunonegative for both BRAFV600E and NRASQ61R was found to harbor an NRASQ61K mutation by sequence analysis. Patients with NRAS-mutated nevi were more likely to report occurrence of the lesion prior to 18-years old and more likely to have intrinsic cysts. The mean largest basal diameter was 6.0 and 3.5 mm for NRAS- and BRAF-immunoreactive lesions, respectively (P = 0.003). GNAQ mutations were identified in each of the two blue nevi of this study.
CONCLUSIONS
These findings document that common conjunctival melanocytic nevi have mutually exclusive mutations in BRAF and NRAS. The two conjunctival blue nevi harbored GNAQ mutations. This suggests the driver mutations of conjunctival nevi are similar to those of nevi of the skin. At the molecular level, conjunctival nevi appear more like cutaneous nevi than choroidal nevi.
Topics: Adolescent; Adult; Conjunctiva; DNA Mutational Analysis; DNA, Neoplasm; Female; GTP Phosphohydrolases; GTP-Binding Protein alpha Subunits, Gq-G11; Humans; Immunohistochemistry; Male; Membrane Proteins; Mutation; Nevus, Pigmented; Proto-Oncogene Proteins B-raf; Skin Neoplasms; Young Adult
PubMed: 29332123
DOI: 10.1167/iovs.17-22517 -
Journal of Clinical Pathology Jun 2000A number of pigmented lesions are difficult to classify and raise the possibility of a melanoma diagnosis. Care should be exercised to exclude non-melanocytic lesions,... (Review)
Review
A number of pigmented lesions are difficult to classify and raise the possibility of a melanoma diagnosis. Care should be exercised to exclude non-melanocytic lesions, and benign melanocytic entities, both of which can mimic melanoma histologically. In addition, the possibility of the lesion being a melanoma variant or epidermotropic metastasis should be considered. There will still be some cases that are difficult to resolve. These usually fall into one of three categories: atypical junctional melanocytic lesion versus early melanoma; naevus versus naevoid melanoma; and atypical Spitz, cellular blue, and deep penetrating naevi versus thick melanoma. These will pose problems even for experts. The atypical Spitz lesions are perhaps the most important category because they tend to be from younger individuals, the differential diagnosis is thick melanoma, and there is no single discriminating histological feature.
Topics: Age Factors; Diagnosis, Differential; Humans; Melanoma; Nevus, Epithelioid and Spindle Cell; Pigmentation Disorders; Skin Neoplasms
PubMed: 10911797
DOI: 10.1136/jcp.53.6.409