Nevus azul celular parotídeo, una tumoración inusual / Parotid cellular blue nevi, an unusual mass

Introducción: el nevus azul celular es una tumoración melanocítica dérmica benigna. En ocasiones, puede ser falsamente diagnosticada como lesiones malignas, entre ellas, el melanoma. Caso clínico: se trata de una mujer de 37 años que presentó una masa parotídea izquierda de cuatro meses de evolución correspondiente con un nevus azul celular. Discusión: la región de la cabeza y cuello es la tercera en frecuencia, tras la sacrococcígea y las extremidades. Ante una tumoración melanocítica, es importante la confirmación diagnóstica, debido a las similitudes, tanto clínicas como anatomopatológicas, del nevus azul celular con el melanoma maligno. Conclusiones: es muy importante el diagnóstico diferencial correcto, para lo cual es de ayuda el uso de las tinciones inmunohistoquímicas. El tratamiento de esta tumoración es la exéresis quirúrgica con márgenes, esto presenta un comportamiento benigno y baja tasa de recidiva.

Introduction: Cellular blue nevi is a benign dermal melanocytic tumor. Occasionally, it can be falsely diagnosed as malignant lesions, including melanoma. Clinical case: This is a 37-year-old woman who presented with a left parotid mass of four months of evolution, corresponding with a cellular blue nevi. Discussion: The region of the head and neck is the third in frequency, after the sacrococcygeal and the extremities. During the study of a melanocytic tumor, diagnostic confirmation with a biopsy is important, due to the similarities, both clinical and pathological, of cellular blue nevi with malignant melanoma. Conclusions: the correct differential diagnosis is very important, for which immunohistochemical study is helpful. The treatment of this tumor is the surgical excision with margins, presenting benign behaviour and low recurrence rate.

An extensive intraoral blue nevus in an elder patient.

OBJECTIVE: To report a rare case of intraoral extensive blue nevus in an elder patient. BACKGROUND: Oral blue nevi is a well-recognised skin melanocytic neoplasm that rarely occurs in the oral cavity and may mimic melanoma in the early stages. METHODS: An incisional biopsy was performed, and the diagnosis was blue nevus. CONCLUSION: Both the clinician and pathologist must be aware of such a presentation to diagnose and treat appropriately.

Manifestaciones radiológicas del síndrome del nevus azul. Presentación de caso / Manifestaciones radiológicas del síndrome del nevus azul. Presentación de caso

El síndrome del nevus azul es una entidad infrecuente que consiste en múltiples malformaciones venosas que comprometen la piel y el resto de los órganos. Los pacientes pueden ser asintomáticos o pueden cursar con diversas manifestaciones dependiendo del lugar donde se encuentren estas alteraciones vasculares. Las distintas modalidades diagnósticas permiten identificar claramente las malformaciones vasculares; sin embargo, usualmente son consideradas un hallazgo incidental y rara vez son el motivo de la realización del estudio. A continuación, se describe el caso de un paciente de 65 años de edad con diagnóstico de síndrome del nevus azul, con malformaciones venosas evidentes, en modalidades como tomografía computarizada, ultrasonido y resonancia magnética.

The blue rubber bleb nevus syndrome is a rare vascular disorder entity that consists of multiple venous malformations that involve the skin, gastrointestinal tract and viscera. Patients may be asymptomatic or may present with various manifestations depending on the site of these vascular alterations and organs involved. The different diagnostic modalities allow for clear identification of vascular malformations; however, they are usually considered an incidental finding and are rarely the reason for the study to be performed. We describe the case of a 65-year-old patient with a diagnosis of blue nevus syndrome with evident venous malformations in computed tomography, ultrasound and magnetic resonance imaging.

Nevus azul celular con satelitosis y velo azul blanquecino simulando un melanoma, a propósito de un caso / Cellular blue nevus with satellitosis and blue veil whitish simulating a melanoma, purpose of a case

Los nevi azules son proliferaciones melanocíticas dendríticas benignas a nivel dérmico, congénitos o adquiridos, debido a un defecto migratorio embrionario de melanocitos a partir de la cresta neural. Se manifiestan clásicamente como una pápula, nódulo o placa de color azul o azul-gris. Muchos subtipos histológicos se han descrito, siendo los más comunes el nevus azul común, nevus azul celular y nevus azul combinado. Las formas esporádicas incluyen al nevus azul lineal, eruptivo, agminado y con satelitosis. La dermatoscopía característica muestra un patrón de pigmentación homogéneo monocromático azul o azul-grisáceo, con ausencia de otras estructuras. Sin embargo, se han descrito también patrones de pigmentación dicromáticos y multicromáticos, además de estructuras tales como red de pigmento, puntos, glóbulos, proyecciones radiadas, pseudópodos, áreas cicatriciales blanquecinas, patrón vascular y rosetas. El diagnóstico diferencial de los nevi azules incluye lesiones melanocíticas y no melanocíticas, benignas y malignas, destacando entre ellas el melanoma. Se presenta el caso de un paciente de sexo masculino de 30 años, portador de un nevus azul celular con cambios de rápida evolución, con desarrollo de lesiones satélites y un aspecto dermatoscópico sugerente de malignidad, simulando un melanoma.

Blue nevi are benign, congenital, or acquired, dermal dendritic melanocytic proliferations due to an embryonic migratory defect of melanocytes starting from the neural crest. They classically manifest as a blue or blue-gray papule, nodule, or plaque. Many histological subtypes have been described, including common blue nevus, cellular blue nevus and combined blue nevus. Sporadic forms include linear blue nevus, eruptive, agminate and with satellitosis. Characteristic dermoscopy shows a homogeneous monochromatic blue or steel-blue pigmentation pattern, with the absence of other structures. However, dichromatic and multichromatic pigmentation patterns have also been described, in addition to structures such as pigment network, dots, globules, streaks, pseudopods, whitish scar areas, vascular pattern and rosettes. Differential diagnosis of blue nevi includes melanocytic and non-melanocytic, benign and malignant lesions, most notably melanoma. The case of a 30-year-old male patient is presented, with a cellular blue nevus with rapidly evolving changes, with development of satellite lesions and a dermoscopic appearance suggestive of malignancy, mimicking melanoma.

Melanoma Ex Blue Nevus With GNA11 Mutation and BAP1 Loss: Case Report and Review of the Literature.

Cutaneous melanomas may demonstrate a variety of histopathological features and genetic abnormalities. Melanomas that arise in the setting of blue nevi, also known as "malignant blue nevus" or melanoma ex blue nevus (MBN), share a similar histopathological and mutational profile with uveal melanoma. Most uveal melanomas show characteristic GNA11 or GNAQ mutations; additional BAP1 mutation or loss is associated with the highest risk of metastasis and worst prognosis. However, the significance of BAP1 loss in melanomas ex blue nevus remains unclear. We present a case of MBN arising from the scalp of a 21-year-old woman. The diagnosis was established on histopathological findings demonstrating a markedly atypical melanocytic proliferation with increased mitotic activity, necrosis, and a focus of angiolymphatic invasion. Immunohistochemical analysis demonstrated the absence of BAP1 nuclear expression within tumor cells. Next generation sequencing detected GNA11 Q209L mutation and BAP1 loss (chromosome 3p region loss), supporting the diagnosis. We reviewed another 21 MBN cases with reported BAP1 status from the literature. MBN with BAP1 loss presented at a younger average age (41 vs. 61 years), demonstrated larger average lesion thickness (9.0 vs. 7.3 mm), and had a higher rate of metastasis (50% vs. 33%) compared with BAP1-retained MBN. BAP1 expression studies may assist in the diagnosis and management of MBN, but further research is needed.

Síndrome de Blue Rubber Bled Nevus. Presentación de un caso / Syndrome of Blue Rubber Bled Nevus. Case presentation

RESUMEN El síndrome de Blue Rubber Bled Nevus se caracteriza por múltiples malformaciones cutáneas, asociadas con malformaciones menores en órganos internos, (comúnmente afectan los órganos del sistema digestivo y el sistema nervioso central). A nivel mundial, se afirma que hay cerca de 1 a 2 millones de individuos afectados por este síndrome, y se cree que incide en 1 de cada 6000. En recién nacidos la incidencia se ha calculado en menos de 1 caso por 100 000 persona/año. Se presentó un caso de una paciente femenina de 8 años de edad, con antecedentes de hemangiomas múltiples de color azul violáceo, distribuidos por toda la superficie corporal, de diferentes diámetros. Algunos protruyen y depresibles al tacto. Presentaba ptosis palpebral y movimientos torpes de los cuatro miembros, epilepsia y afectaciones del neurodesarrollo el cual corresponde con una edad cronológica de 11 meses. Mostraba una disminución importante de la visión. Presencia de pie valgo a predominio derecho. Apareció anemia leve por déficit de hierro, inmunoglobulina C3 y C4, la química sanguínea al límite de lo normal. La resonancia magnética nuclear mostró importantes signos de atrofia cortical, más acentuados en región temporal derecha. Son entidades de muy escasa presentación y en la provincia de Matanzas es el único caso con este diagnóstico, por lo que constituyó el motivo para la presentación del caso (AU).

ABSTRACT The syndrome of Blue Rubber Bled Nevus is characterized by multiple skin malformations, associated to minor malformations in internal organs (it commonly affects the organs of the digestive system and the central nervous system). It is affirmed that around 1 to 2 millions of individuals are affected by this syndrome worldwide, and it is believed that it has incidence on 1 of each 6000 persons. In newborns the incidence has been calculated in less than 1 case per 100 000 persons/year. The authors presented the case of a female patient, aged 8 years, with antecedents of purplish-blue multiple hemangiomas of different diameters, distributed all over the surface if the body. Several of them are protruding and depressible to the touch. She presented eyelid ptosis and slow movements of the four limbs, epilepsy, and neurodevelopment affectations corresponding to a chronological age of 11 months. She showed an important decrease of the vision. The study showed a slight iron-deficiency anemia, immunoglobulin C3 and C4, blood chemistry at the normal limit. The magnetic resonance imaging showed important signs of cortical atrophy, stronger in the right temporal region. These are entities of scarce presentation and it is the only case with this diagnosis found in the province of Matanzas; that motivated this case presentation (AU).

Síndrome de Blue Rubber Bled Nevus. Presentación de un caso / Syndrome of Blue Rubber Bled Nevus. Case presentation

RESUMEN El síndrome de Blue Rubber Bled Nevus se caracteriza por múltiples malformaciones cutáneas, asociadas con malformaciones menores en órganos internos, (comúnmente afectan los órganos del sistema digestivo y el sistema nervioso central). A nivel mundial, se afirma que hay cerca de 1 a 2 millones de individuos afectados por este síndrome, y se cree que incide en 1 de cada 6000. En recién nacidos la incidencia se ha calculado en menos de 1 caso por 100 000 persona/año. Se presentó un caso de una paciente femenina de 8 años de edad, con antecedentes de hemangiomas múltiples de color azul violáceo, distribuidos por toda la superficie corporal, de diferentes diámetros. Algunos protruyen y depresibles al tacto. Presentaba ptosis palpebral y movimientos torpes de los cuatro miembros, epilepsia y afectaciones del neurodesarrollo el cual corresponde con una edad cronológica de 11 meses. Mostraba una disminución importante de la visión. Presencia de pie valgo a predominio derecho. Apareció anemia leve por déficit de hierro, inmunoglobulina C3 y C4, la química sanguínea al límite de lo normal. La resonancia magnética nuclear mostró importantes signos de atrofia cortical, más acentuados en región temporal derecha. Son entidades de muy escasa presentación y en la provincia de Matanzas es el único caso con este diagnóstico, por lo que constituyó el motivo para la presentación del caso.

ABSTRACT The syndrome of Blue Rubber Bled Nevus is characterized by multiple skin malformations, associated to minor malformations in internal organs (it commonly affects the organs of the digestive system and the central nervous system). It is affirmed that around 1 to 2 millions of individuals are affected by this syndrome worldwide, and it is believed that it has incidence on 1 of each 6000 persons. In newborns the incidence has been calculated in less than 1 case per 100 000 persons/year. The authors presented the case of a female patient, aged 8 years, with antecedents of purplish-blue multiple hemangiomas of different diameters, distributed all over the surface if the body. Several of them are protruding and depressible to the touch. She presented eyelid ptosis and slow movements of the four limbs, epilepsy, and neurodevelopment affectations corresponding to a chronological age of 11 months. She showed an important decrease of the vision. The study showed a slight iron-deficiency anemia, immunoglobulin C3 and C4, blood chemistry at the normal limit. The magnetic resonance imaging showed important signs of cortical atrophy, stronger in the right temporal region. These are entities of scarce presentation and it is the only case with this diagnosis found in the province of Matanzas; that motivated this case presentation.

ALK Rearrangements Are Infrequent in Cellular Blue Nevus and Deep Penetrating Nevus.

Recent studies have identified kinase fusions in Spitzoid melanocytic neoplasms, and approximately 10% of Spitzoid neoplasms harbor anaplastic lymphoma kinase (ALK) rearrangements and corresponding ALK immunoreactivity. Deep penetrating nevi (DPN), a subset of melanocytic neoplasms, have histologic and immunohistochemical overlap that have historically supported classification of DPN with blue/cellular blue nevi (CBN). However, HRAS mutations have rarely been detected in DPN, thereby also linking them to Spitz nevi. The purpose of this study was to see if DPN or CBN possess ALK rearrangements, thereby providing more evidence that these melanocytic lesions may be pathogenetically related to Spitzoid neoplasms. Using ALK immunohistochemistry as a surrogate for ALK rearrangement, the authors examined 26 DPN, 30 CBN, and 4 conventional blue nevi. ALK immunoreactive cases underwent fluorescent in situ hybridization to investigate for the presence of ALK gene rearrangement. Patchy and focal ALK immunostaining was found in only 1 case of DPN (1/26, 3.8%). Seven cases of CBN (7/30; 23%) showed ALK immunostaining (6 focal/patchy, 1 strong and diffuse). Fluorescent in situ hybridization using ALK break-apart probes showed various degrees of gain of 2p23 and rare ALK break-apart signals. Four CBN showed ALK rearrangement in 2%-4% of cells. Two cases of CBN showed gain of 2p23 in 10%-20% of cells. In our study, ALK rearrangements are uncommon in both CBN and DPN, making ALK an unlikely driver in tumorigenesis and classification of these melanocytic variants. However, our study did identify ALK molecular changes and immunohistochemical staining patterns that have not been previously described in CBN or DPN.

Blue nevus with satellitosis: case report and literature review.

Blue nevus is a benign melanocytic lesion, typically asymptomatic and of unknown etiology. Many histological subtypes are recognized, the most commons being: common blue nevus, cellular blue nevus, and combined blue nevus. New rare variants have been described in the literature, with emphasis on eruptive blue nevus, plaque, agminate, linear, with satellitosis, disseminated, familial and targetoid. The diagnosis of blue nevus usually presents no difficulties, however, the presence of structures such as irregular edges or satellitosis, are highly suggestive of malignancy, and the differential diagnosis with malignant blue nevus and melanoma with peripheral spread should be considered. We report a case of blue nevus with satellitosis in a 15-year-old female patient.

Atypical cellular blue nevus or malignant blue nevus?

Blue nevus is a benign melanocytic lesion whose most frequent variants are dendritic (common) blue nevus and cellular blue nevus. Atypical cellular blue nevus presents an intermediate histopathology between the typical and a rare variant of malignant blue nevus/melanoma arising in a cellular blue nevus. An 8-year-old child presented a pigmented lesion in the buttock since birth, but with progressive growth in the last two years. After surgical excision, histopathological examination revealed atypical cellular blue nevus. Presence of mitoses, ulceration, infiltration, cytological atypia or necrosis may occur in atypical cellular blue nevus, making it difficult to differentiate it from melanoma. The growth of blue nevus is unusual and considered of high-risk for malignancy, being an indicator for complete resection and periodic follow-up of these patients.

Atypical cellular blue nevus or malignant blue nevus?

Abstract: Blue nevus is a benign melanocytic lesion whose most frequent variants are dendritic (common) blue nevus and cellular blue nevus. Atypical cellular blue nevus presents an intermediate histopathology between the typical and a rare variant of malignant blue nevus/melanoma arising in a cellular blue nevus. An 8-year-old child presented a pigmented lesion in the buttock since birth, but with progressive growth in the last two years. After surgical excision, histopathological examination revealed atypical cellular blue nevus. Presence of mitoses, ulceration, infiltration, cytological atypia or necrosis may occur in atypical cellular blue nevus, making it difficult to differentiate it from melanoma. The growth of blue nevus is unusual and considered of high-risk for malignancy, being an indicator for complete resection and periodic follow-up of these patients.

Blue nevus with satellitosis: case report and literature review

Abstract: Blue nevus is a benign melanocytic lesion, typically asymptomatic and of unknown etiology. Many histological subtypes are recognized, the most commons being: common blue nevus, cellular blue nevus, and combined blue nevus. New rare variants have been described in the literature, with emphasis on eruptive blue nevus, plaque, agminate, linear, with satellitosis, disseminated, familial and targetoid. The diagnosis of blue nevus usually presents no difficulties, however, the presence of structures such as irregular edges or satellitosis, are highly suggestive of malignancy, and the differential diagnosis with malignant blue nevus and melanoma with peripheral spread should be considered. We report a case of blue nevus with satellitosis in a 15-year-old female patient.

Agminated blue nevus - Case report.

Blue nevi are benign melanocytic lesions located in the deeper reticular dermis, consequence of failure of melanocytic migration into the dermal-epidermal junction from the neural crest. Lesions are usually asymptomatic and solitary, but may present in a multiple or agminated (grouped) pattern. The agminated subtype is formed when bluish-pigmented lesions cluster together in a well-defined area. Lesions can be flat or raised. We report the case of a patient who presented multiple bluish macules (1-3 mm in diameter) grouped on the left upper back. Dermoscopy and anatomic pathological examination were consistent with blue nevus.