1,969 results match your criteria Blue Nevi

Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome.

J Invest Dermatol 2022 May 11. Epub 2022 May 11.

iGReD, CNRS, Inserm, Université Clermont-Auvergne, France. Electronic address:

Carney complex (CNC) is a rare familial multi-neoplastic syndrome predisposing to endocrine and non-endocrine tumors due to inactivating mutations of PRKAR1A leading to perturbations of the cAMP protein kinase A (PKA) signaling pathway. Skin lesions are the most common manifestation of CNC, including lentigines, blue nevi and cutaneous myxomas, in unusual locations such as oral and genital mucosa. Unlike endocrine disorders, the pathogenesis of skin lesions remains unexplained. Read More

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Loss of dimethylated H3K27 (H3K27me2) expression is not a specific marker of malignant peripheral nerve sheath tumor (MPNST): An immunohistochemical study of 137 cases, with emphasis on MPNST and melanocytic tumors.

Ann Diagn Pathol 2022 May 6;59:151967. Epub 2022 May 6.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 59005, United States of America. Electronic address:

Introduction: Loss-of-function mutations in EED and SUZ12, core components of the polycomb repressive complex 2 (PRC2), occur in >90% of sporadic and radiation-associated malignant peripheral nerve sheath tumors (MPNST) and in roughly 70% of NF1-related tumors. PRC2 inactivation results in loss of H3K27me3 expression and aberrant downstream transcription. H3K27me3 expression is lost in 40-90% of spindle cell MPNST but is not specific. Read More

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Melanocytic Nevus With Elastophilic Features.

Tien Anh N Tran

Am J Dermatopathol 2022 Apr 27. Epub 2022 Apr 27.

Department of Pathology, Advent Health, Orlando, FL.

Abstract: In dermal melanocytoses such as blue nevus or nevus of Ota, an ultrastructural study has demonstrated an intimate relationship between the dendritic melanocytes and the dermal elastic fibers with elongated cytoplasmic processes of the melanocytes aligning lengthwise along the axis of the elastic fibers in longitudinal sections and encircling the elastic fibers in cross-sections. Such a close arrangement has not been reported in common melanocytic nevi. The current case described a similar arrangement between the melanocytes and the dermal elastic fibers in a usual intradermal melanocytic nevus. Read More

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Blue nevi of the palpebral conjunctiva: report of 2 cases and review of literature.

Orbit 2022 Apr 28:1-8. Epub 2022 Apr 28.

Department of Ophthalmology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.

Purpose: To describe two patients with blue nevi of the palpebral conjunctiva and to review the existing literature on common and cellular blue nevi of the conjunctiva.

Methods: Report of two cases and literature review.

Results: We present two cases of blue nevi in the palpebral conjunctiva: an atypical cellular blue nevus of the left upper eyelid and a common blue nevus around the lacrimal punctum of the left lower eyelid. Read More

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Lesion- and Patient-Related Variables May Provide Additional Clues during Dermoscopic Assessment of Blue Nevi-A Retrospective Cohort Study.

Cancers (Basel) 2022 Apr 10;14(8). Epub 2022 Apr 10.

Institute of Dermatology, "Santa Maria della Misericordia" University Hospital, 33100 Udine, Italy.

Little is known about the correlation between lesion- and patient-related variables and the dermoscopic features of blue nevi. The aim of the study was dermoscopic analysis of blue nevi in association with patient- and lesion-related variables, with a special interest in structures whose prevalence has not been previously reported. This was a double-center, retrospective study, which included the analysis of histopathologically confirmed blue nevi ( = 93). Read More

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Comprehensive Clinical, Histopathologic, and Molecular Analysis and Long-term Follow-up of Patients With Nodal Blue Nevi.

Am J Surg Pathol 2022 Apr 20. Epub 2022 Apr 20.

Melanoma Institute Australia.

Blue nevi are benign, melanocytic neoplasms that show a range of clinical and morphologic patterns and include common/dendritic, cellular, and atypical cellular subtypes. Like other nevi, they most commonly occur in skin but can occasionally involve lymph nodes where they may be misinterpreted as representing metastatic melanoma. Moreover, whether benign blue nevi can metastasize to lymph nodes and their natural history and prognostic significance has been the subject of great controversy. Read More

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Blue Rubber Bleb Nevus Syndrome: A Rare Case of Gastrointestinal Hemorrhage Necessitating Bowel Resection.

Am Surg 2022 Apr 17:31348221084949. Epub 2022 Apr 17.

Department of Pediatric Surgery, 14423Arkansas Children's Hospital, Little Rock, AR, USA.

Blue Rubber Bleb Nevus Syndrome is a congenital rarity that manifests as vascular malformations throughout the body, including the gastrointestinal tract. With fewer than 300 cases reported, the etiology and clinical course is poorly understood; however, the literature suggests mutations on chromosome 9 result in unregulated angiogenesis. We present the case of a young female treated for anemia of unknown etiology who presented in hemorrhagic shock due to gastrointestinal hemorrhage necessitating small bowel resection, with cutaneous, intestinal, hepatic, and lingual vascular malformations associated with a single somatic pathologic mutation. Read More

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

J Neurosurg Spine 2022 Apr 1:1-7. Epub 2022 Apr 1.

1Division of Vascular and Interventional Radiology.

Objective: 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).

Methods: The authors retrospectively investigated the relationship between the development of a CSF leak and the presence of epidural VMs. Read More

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Blue Rubber Bleb Nevus Syndrome Manifesting as an Isolated Congenital Orbital Mass in a Neonate.

Ophthalmic Plast Reconstr Surg 2022 Mar 30. Epub 2022 Mar 30.

Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, Tennessee.

A male neonate presented with an isolated congenital right orbital vascular malformation without other mucocutaneous lesions or signs/symptoms of systemic disease. The orbital mass was progressive, causing amblyogenic ptosis by 6 months of age. Over 11 years, the patient underwent 4 orbital mass resections, 3 embolizations, and even a craniotomy with mass resection for an intraorbital meningoencephalocele secondary to orbital bony erosion. Read More

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A Comparative Study of Dermatoscopic Features of Melasma and Hori's Nevus in Asian Patients.

J Clin Aesthet Dermatol 2022 Mar;15(3):16-20

All authors are with the Division of Dermatology, Faculty of Medicine, Ramathibodi Hospital at Mahidol University in Bangkok, Thailand.

Background: Dermatoscopy is a noninvasive diagnostic tool for pigmented lesions. However, data regarding dermatoscopic features in melasma and Hori's nevus, which are commonly found in Asian populations, are still lacking. In addition, melasma coexisting with Hori's nevus presents a particular diagnostic challenge and they generally require different treatments. Read More

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[Caruncular Blue Nevus].

Klin Monbl Augenheilkd 2022 04 23;239(4):409-410. Epub 2022 Mar 23.

Augenzentrum, Pallas Kliniken AG, Bern, Schweiz.

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Blue rubber bleb nevus syndrome in a Pakistani child: A case report and regional literature review.

J Pak Med Assoc 2022 Feb;72(2):349-353

Department of Paediatrics & Child Health, The Aga Khan University Hospital, Karachi, Pakistan.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder in which there is development of multiple venous malformations and haemangiomas in the skin and visceral organs. The lesions mostly involve the skin and gastrointestinal systems but other organs, including the liver, muscles, and the central nervous system, can also be involved. If untreated, affected individuals develop severe anaemia. Read More

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February 2022

Attempting to Solve the Pigmented Epithelioid Melanocytoma (PEM) Conundrum: PRKAR1A Inactivation Can Occur in Different Genetic Backgrounds (Common, Blue, and Spitz Subgroups) With Variation in Their Clinicopathologic Characteristics.

Am J Surg Pathol 2022 Mar 22. Epub 2022 Mar 22.

Cancer Research Center of Lyon, INSERM 1052, CNRS 5286, Lyon University, Claude Bernard Lyon 1 University Biopathology Department, Cancer-care Center Léon Bérard, Unicancer, Lyon CYPATH, Villeurbanne Department of Pathology, Aix Marseille University, INSERM, APHM MMG, UMR1251, Marmara Institute, Timone University Hospital, Marseille, France.

Pigmented epithelioid melanocytoma is a rare cutaneous melanocytic proliferation considered high-grade melanocytoma in the 2018 WHO Classification of Skin Tumors. Little has been reported about the associated genetic drivers in addition to BRAF and MAP2K1 mutations or PRKCA gene fusions. Here, we present a series of 21 cases of PRKAR1A-inactivated melanocytic tumors in which we could assess the associated genetic background. Read More

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A multidisciplinary approach to caring for a pregnant patient with blue rubber bleb nevus syndrome: A case report.

Case Rep Womens Health 2022 Apr 9;34:e00403. Epub 2022 Mar 9.

Division of Maternal and Fetal Medicine, Department of Obstetrics and Gynecology, Henry Ford Hospital, Detroit, MI, United States of America.

Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder characterized by recurrent, multifocal venous malformations throughout the skin, soft tissue, and numerous internal organs. Pregnant women with BRBNS are at high risk of morbidity and mortality, and thus their care requires careful planning and surveillance. This report highlights the case of a 21-year-old woman, gravida 1, para 0, with BRBNS who was cared for by a multidisciplinary team of providers in obstetrics, maternal-fetal medicine, obstetric anesthesia, hematology, dermatology, gastroenterology, and otorhinolaryngology. Read More

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Dermoscopic features of nevoid melanoma: a retrospective study with systematic literature review.

Ital J Dermatol Venerol 2022 Mar 11. Epub 2022 Mar 11.

Section of Dermatology and Venereology, Department of Medicine, University of Verona, Verona, Italy.

Introduction: Nevoid melanoma (NeM) is a rare variant of melanoma resembling melanocytic nevus. The objective of the study is to systematically review the dermoscopic features of NeM.

Evidence Acquisition: A hospital-based retrospective study was conducted. Read More

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HMB45 protein expression and the immunohistochemical maturation in common blue nevi: a reappraisal.

An Bras Dermatol 2022 Mar 7. Epub 2022 Mar 7.

Department of Pathology, Assiut University Hospitals, Assiut University, Egypt. Electronic address:

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Diagnosis of the origin of an epibulbar melanocytic tumor with molecular genomics.

Ophthalmic Genet 2022 Mar 8:1-4. Epub 2022 Mar 8.

Ocular Oncology Service, Princess Margaret Cancer Centre, Toronto, Ontario, Canada.

Background: Uveal melanoma (UM) and conjunctival melanoma (CM) are distinct entities with different etiologies and genetic background. We present a case of an atypical subconjunctival melanoma arising from a blue nevus.

Patients And Methods: A 61-year-old female presented with a partially melanocytic epibulbar mass with surrounding episcleral pigmented spots. Read More

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An unusual and challenging cause of small bowel bleeding: Isolated gastrointestinal blue rubber bleb nevus syndrome.

Transl Gastroenterol Hepatol 2022 25;7:12. Epub 2022 Jan 25.

Gastroenterology and Hepatology Division, Internal Medicine Department, University of Tennessee Health Science Center, Memphis, TN, USA.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease that presents as cutaneous and extra-cutaneous vascular malformations, most commonly affecting the gastrointestinal (GI) tract. We report a case of adult onset BRBNS in an African American male with vascular lesions isolated to the jejunum without any cutaneous manifestations. Physicians should recognize that BRBNS can present without skin involvement and may have complications from visceral organ involvement. Read More

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January 2022

Evaluation of Dermoscopic Features in Facial Melanosis with Wood Lamp Examination.

Bibush Amatya

Dermatol Pract Concept 2022 Feb 1;12(1):e2022030. Epub 2022 Jan 1.

Nepal Medical College and Teaching Hospital, Kathmandu, Nepal.

Introduction: Facial melanosis is one of the most common reasons for which patients refer to a dermatologist in Nepal.

Objectives: The objective of this study was to evaluate the dermoscopic findings of common facial melanoses and correlate them with findings from Wood lamp examination.

Methods: This was a cross-sectional study conducted at the Department of Dermatology and Venereology, Nepal Medical College and Teaching Hospital. Read More

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February 2022

Blue Nevus of the Hard Palate: The Importance of a Careful Examination in an Emergency Setting.

Case Rep Dermatol Med 2022 15;2022:6329334. Epub 2022 Feb 15.

Stomatology Department, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal.

Oral common blue nevus is an asymptomatic, benign, rare, pigmented lesion and sometimes clinically indistinguishable from other pigmented lesions such as the cellular blue nevus or early-stage malignant melanoma. Since it shows clinical similarities with a malignant lesion and with cellular blue nevus that can itself suffer malignant transformation, the decisive diagnosis is crucial for adequate treatment, follow-up, and prognosis. Diagnosis confirmation is given by histological analysis, the reason why most oral pigmented lesions are excised. Read More

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February 2022

An Unusual Cause of Anemia: Throwing the Cat among the Pigeons.

GE Port J Gastroenterol 2022 Jan 3;29(1):73-74. Epub 2021 Feb 3.

Department of Gastroenterology, Centro Hospitalar Lisboa Ocidental, Hospital de Egas Moniz, Lisbon, Portugal.

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January 2022

Compound blue nevus: A misleading pigmented melanocytic tumor.

Clin Case Rep 2022 Jan 18;10(1):e05311. Epub 2022 Jan 18.

Dermatology Department Hedi Chaker University Hospital Sfax Tunisia.

Compound blue nevus had clinical and histological similarities with other heavily pigmented melanocytic tumor, like the pigmented epithelioid melanocytoma. Distinctive genomic aberrations have allowed differentiating it. The defining characteristic of blue nevi family is the presence of activating mutations in the G protein α-subunits, GNAQ and GNA11. Read More

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January 2022

Reimagining the Terms Mongolian Spot and Sign.

Cureus 2021 Dec 13;13(12):e20396. Epub 2021 Dec 13.

General Internal Medicine, University of Florida College of Medicine, Gainesville, USA.

The term "Mongolian Spot" rather than the preferred descriptive name congenital dermal melanocytosis (CDM) continues to be used despite compelling objections to the contrary. Terms that stigmatize a culture, region, people, country, communities, and ethnic group should be replaced by their more descriptive counterparts. Herein, we clarify terminology, discuss the historical significance, and provide a recommendation about naming this disease. Read More

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December 2021

Novel CD63-PRKCB fusion in a case of pigmented epithelioid melanocytoma.

Pediatr Dermatol 2022 Mar 13;39(2):322-323. Epub 2022 Jan 13.

Department of Pediatrics, Columbia University, Vagelos College of Physicians and Surgeons, New York, New York, USA.

Pigmented epithelioid melanocytoma (PEM) is an intermediate-grade melanocytic tumor with considerable histologic overlap with other melanocytic neoplasms such as epithelioid blue nevus (EBN), which is associated with the neoplastic syndrome Carney complex (CC). Next-generation sequencing is a valuable tool for identifying the primary drivers of melanocytic neoplasms and differentiating them from one another. While germline variants in the protein kinase cAMP-dependent regulatory type 1 alpha (PRKAR1A) gene have been associated with EBN and CC, fusions in protein kinase C-alpha (PRKCA) have been shown as sporadic drivers of PEM. Read More

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Cutaneous Gamna-Gandy bodies: An unusual case of dystrophic calcification.

J Cutan Pathol 2022 Jan 12. Epub 2022 Jan 12.

Dermatopathology, Joint Pathology Center, Silver Spring, Maryland, USA.

Dystrophic calcification is a common histopathologic finding that can be concomitant with a plethora of diseases, ranging from self-limited infections to insidious malignancies. Gamna-Gandy bodies (GGBs) are a form of dystrophic calcification associated with chronic hemolysis and are typically observed in the spleen. In this report, we present the case of a 92-year-old man who presented with a 4-mm blue papule that was biopsied given the concern for a blue nevus. Read More

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January 2022

An unusual cause of anemia: Bean syndrome.

Rev Esp Enferm Dig 2022 Apr;114(4):243-244

Internal Medicine, Hospital Santo Espírito da Ilha Terceira, Portugal.

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. Read More

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PRAME Expression in Challenging Dermal Melanocytic Neoplasms and Soft Tissue Tumors With Melanocytic Differentiation.

Am J Dermatopathol 2022 Jan 5. Epub 2022 Jan 5.

University of Michigan Medical School, Ann Arbor, MI; Departments of Pathology, and Dermatology, University of Michigan, Ann Arbor, MI; and Rogel Cancer Center, University of Michigan, Ann Arbor, MI.

Abstract: Preferentially expressed antigen in melanoma (PRAME) is an immunohistochemical biomarker that is diffusely expressed in most cutaneous melanomas and is negative in most benign nevi. Histologically challenging dermal melanocytic neoplasms, such as cellular blue nevi (CBN) and deep penetrating nevi (DPN), and soft tissue tumors with melanocytic differentiation, such as clear cell sarcoma and perivascular epithelioid cell tumor, may resemble primary or metastatic melanoma. PRAME immunohistochemistry (IHC) was applied to archived formalin-fixed, paraffin-embedded specimens of various dermal melanocytic neoplasms and soft tissue neoplasms with melanocytic differentiation. Read More

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January 2022

Blue rubber bleb nevus syndrome: a single-center case series in 12 years.

Transl Pediatr 2021 Nov;10(11):2960-2971

Department of Gastroenterology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

Background: Blue rubber bleb nevus syndrome is a rare congenital disease characterized by multiple venous malformations in skin and gastrointestinal tract, not all patients have typical cutaneous lesions, refractory anemia may be the only clinical symptom, it is easy to miss diagnosis.

Methods: A retrospective single center study was conducted on 8 patients with blue rubber bleb nevus syndrome from 2009 to 2021. Data were analyzed including clinical feature, diagnostic workup and results, gene detection, treatment and follow-up. Read More

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November 2021

Sinonasal blue nevus: a case report and review.

Ear Nose Throat J 2021 Dec 10:1455613211064014. Epub 2021 Dec 10.

Department of Otorhinolarynogology, Head and Neck Surgery, Zhongnan Hospital of Wuhan University, Wuhan, China.

Blue nevus is a type of uncommon benign pigmented lesion in the skin or the mucosa of human body which is featured by pigmented dendritic melanocytes and spindled melanocytic cells. Sinonasal blue nevus is extremely rare. We reported a sinonasal blue nevus case with the background of pituitary adenoma, type 2 diabetes mellitus, and hypertension (including endoscopic and histological pictures). Read More

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December 2021

Primary orbital melanoma arising in an atypical diffuse (plaque-like) blue naevus/melanocytosis: a case report and review of literature.

BMC Ophthalmol 2021 Dec 9;21(1):425. Epub 2021 Dec 9.

Department of Anatomical Pathology, PathWest Laboratory Medicine, QEII Medical Centre, Perth, WA, 6009, Australia.

Background: Primary orbital melanoma is a rare disease and can occasionally develop from a pre-existing neoplasm of the blue naevus family of melanocytic lesions.

Case Presentation: Herein we report a rare case of primary orbital melanoma arising from an unusual atypical diffuse (plaque-like) blue naevus/melanocytosis. A 27 year old man presented with mild pain and swelling of the left eye. Read More

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December 2021