RESUMO
PURPOSE: Photobiomodulation therapy (PBM) is a versatile technique for treating skin diseases. Melasma, a chronic hyperpigmentation condition, has recently been associated with vascular features and dermal photoaging and poses significant management challenges. We review the recent literature on melasma etiology and the evidence supporting PBM as a therapeutic modality for melasma treatment. METHODS: We conducted a comprehensive literature search in three different databases from May to August 2023, focusing on studies published in the past 10 years. The inclusion criteria comprised full-text studies investigating low-power lasers and/or light-emitting diodes (LEDs) in in vitro or in vivo models, as well as clinical trials. We excluded studies discussing alternative melasma therapies or lacking experimental data. We identified additional studies by searching the reference lists of the selected articles. RESULTS: We identified nine relevant studies. Clinical studies, in agreement with in vitro experiments and animal models, suggest that PBM effectively reduces melasma-associated hyperpigmentation. Specific wavelengths (red: 630 nm; amber: 585 and 590 nm; infrared: 830 and 850 nm) at radiant exposures between 1 and 20 J/cm2 exert modulatory effects on tyrosinase activity, gene expression, and protein synthesis of melanocytic pathway components, and thus significantly reduce the melanin content. Additionally, PBM is effective in improving the dermal structure and reducing erythema and neovascularization, features recently identified as pathological components of melasma. CONCLUSION: PBM emerges as a promising, contemporary, and non-invasive procedure for treating melasma. Beyond its role in inhibiting melanogenesis, PBM shows potential in reducing erythema and vascularization and improving dermal conditions. However, robust and well-designed clinical trials are needed to determine optimal light parameters and to evaluate the effects of PBM on melasma thoroughly.
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Hiperpigmentação , Terapia com Luz de Baixa Intensidade , Melanose , Animais , Terapia com Luz de Baixa Intensidade/efeitos adversos , Melanose/radioterapia , Melanose/complicações , Lasers , Eritema/etiologiaRESUMO
INTRODUCTION: Renal transplant recipients are at increased risk of keratinocyte skin cancers with a tendency to have multiple, aggressive and difficult to treat tumours. The eye and the skin share the same embryological ectoderm. Iris pattern has recently been reported as a predictive risk factor for skin cancer in non-immunosuppressed Southern European (Grigore et al., J Eur Acad Dermatol Venereol, 2018, 1662) and Irish populations (Ridge et al., J Eur Acad Dermatol Venereol, 2022, e542). AIMS: To analyse if an individual's iris pattern is an independent risk factor for the development of keratinocyte skin cancers in renal transplant recipients. METHODS: Iris patterns of 110 renal transplant recipients were evaluated using the Simionescu visual three-step technique (iris periphery, colarette and iris freckling [Simionescu et al., Ann Res Rev Biol, 2014, 2525]). Established risk factors for skin cancer in transplant patients were recorded as confounding factors. RESULTS: Observational cross-sectional study including 110 renal transplant population. Thirty-one participants had skin cancer. In the skin cancer group, iris periphery was blue/grey in 74.3% (p = 0.053, OR 2.5), the colarette was light brown in 57.1% (p < 0.0043) and iris freckles were present in 55%(p = 0.044). Dark brown and blue colarettes were observed in controls. Binary Logistic Regression analysis showed light brown colarette is a significant independent risk factor for skin cancer (OR 4.54, p < 0.02, CI 1.56-10.57). CONCLUSION: Within this renal transplant population a blue iris periphery, light brown colarette and presence of freckling confers an independent risk for keratinocyte skin cancer. Iris pattern is a useful tool for identification of transplant patients at risk of keratinocyte skin cancer and an easy-to-use technique for risk evaluation in this cohort. This is the first study looking at iris pattern and keratinocyte skin cancer risk in renal transplant population.
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Transplante de Rim , Melanose , Neoplasias Cutâneas , Humanos , Estudos Transversais , Iris/patologia , Transplante de Rim/efeitos adversos , Melanose/complicações , Fatores de Risco , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/patologiaRESUMO
Melasma is a common pigmentary disorder with a complex pathogenesis, of which the treatment is challenging. Conventional treatment often leads to inconsistent results with unexpected pigmentary side effects and high recurrence rates. Recently, the low-fluence Q-switched Nd:YAG laser (LFQSNY) has been widely used for treating melasma, especially in Asia. We reviewed literatures on the LFQSNY treatment of melasma published between 2009 and May 2022 to evaluate the efficacy and adverse events, including its combination therapy. A systematic PubMed search was conducted and a total of 42 articles were included in this study. It was hard to summarize the heterogenous studies, but LFQSNY appeared to be a generally effective and safe treatment for melasma considering the results of previous conventional therapies. However, mottled hypopigmentation has been occasionally reported to develop and persist as an adverse event of LFQSNY, which may be associated with the high accumulated laser energy. When used aggressively, even LFQSNY can induce hyperpigmentation via unwanted inflammation, especially in darker skin. Although few studies have reported considerable recurrence rates three months after treatment, unfortunately, there is a lack of the long-term follow-up results of LFQSNY in melasma. To enhance the effectiveness and reduce the adverse events, LFQSNY has been used in combination with other treatment modalities in melasma, including topical bleaching agents, oral tranexamic acid, chemical peeling, or diverse energy-based devices, which generally reduced side effects with or without significant superior efficacy compared to LFQSNY alone.
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Hiperpigmentação , Lasers de Estado Sólido , Terapia com Luz de Baixa Intensidade , Melanose , Terapia Combinada , Humanos , Lasers de Estado Sólido/uso terapêutico , Melanose/complicações , Melanose/radioterapia , Resultado do TratamentoRESUMO
ABSTRACT: The incidence of congenital melanocytic nevi (CMNs) is 1% to 6% for small- to intermediate-size nevi to 1 in 500,000 for giant size nevi. Large and satellite CMNs are known to be associated with neurocutaneous melanosis and central nervous system malformations such as Dandy-Walker malformation, defects of the vertebra-skull, and intraspinal lipomas. We hereby present a case of CMN syndrome in an 18-year-old girl with leptomeningeal melanoma, evaluated with MRI, adequately staged, and screened with FDG PET.
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Melanoma , Melanose , Neoplasias Meníngeas , Síndromes Neurocutâneas , Nevo Pigmentado , Neoplasias Cutâneas , Feminino , Humanos , Adolescente , Nevo Pigmentado/complicações , Nevo Pigmentado/diagnóstico por imagem , Nevo Pigmentado/congênito , Síndromes Neurocutâneas/complicações , Síndromes Neurocutâneas/diagnóstico por imagem , Melanose/complicações , Melanoma/complicações , Melanoma/diagnóstico por imagem , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Meníngeas/complicações , Neoplasias Meníngeas/diagnóstico por imagemRESUMO
OBJECTIVE: Neurocutaneous melanocytosis (NCM), also referred to as neurocutaneous melanosis, is a rare neurocutaneous disorder characterized by excess melanocytic proliferation in the skin, leptomeninges, and cranial parenchyma. NCM most often presents in pediatric patients within the first 2 years of life and is associated with high mortality due to proliferation of melanocytes in the brain. Prognosis is poor, as patients typically die within 3 years of symptom onset. Due to the rarity of NCM, there are no specific guidelines for management. The aims of this systematic review were to investigate approaches toward diagnosis and examine modern neurosurgical management of NCM. METHODS: A systematic review was performed using the PubMed database between April and December 2021 to identify relevant articles using PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Search criteria were created and checked independently among the authors. Inclusion criteria specified unique studies and case reports of NCM patients in which relevant neurosurgical management was considered and/or applied. Exclusion criteria included studies that did not report associated neurological diagnoses and neuroimaging findings, clinical reports without novel observations, and those unavailable in the English language. All articles that met the study inclusion criteria were included and analyzed. RESULTS: A total of 26 extracted articles met inclusion criteria and were used for quantitative analysis, yielding a cumulative of 74 patients with NCM. These included 21 case reports, 1 case series, 2 retrospective cohort studies, 1 prospective cohort study, and 1 review. The mean patient age was 16.66 years (range 0.25-67 years), and most were male (76%). Seizures were the most frequently reported symptom (55%, 41/74 cases). Neurological diagnoses associated with NCM included epilepsy (45%, 33/74 cases), hydrocephalus (24%, 18/74 cases), Dandy-Walker malformation (24%, 18/74 cases), and primary CNS melanocytic tumors (23%, 17/74 cases). The most common surgical technique was CSF shunting (43%, 24/56 operations), with tethered cord release (4%, 2/56 operations) being the least frequently performed. CONCLUSIONS: Current management of NCM includes CSF shunting to reduce intracranial pressure, surgery, chemotherapy, radiotherapy, immunotherapy, and palliative care. Neurosurgical intervention can aid in the diagnosis of NCM through tissue biopsy and resection of lesions with surgical decompression. Further evidence is required to establish the clinical outcomes of this rare entity and to describe the diverse spectrum of intracranial and intraspinal abnormalities present.
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Melanose , Síndromes Neurocutâneas , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Melanose/complicações , Melanose/patologia , Melanose/cirurgia , Pessoa de Meia-Idade , Síndromes Neurocutâneas/complicações , Síndromes Neurocutâneas/diagnóstico por imagem , Síndromes Neurocutâneas/cirurgia , Estudos Prospectivos , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: Melanocytic lesions of the central nervous system (CNS) are an infrequent, broad and diverse group of entities, both benign and malignant, found in all age groups, with imaging findings ranging from well-circumscribed focal lesions to diffuse leptomeningeal involvement. On MRI, they are usually distinguished by a high signal on T1WI sequences, given the paramagnetic effect of melanin, thus making it difficult to differentiate among them. OBJECTIVE: To describe the imaging and epidemiological characteristics of a retrospective series of CNS melanocytic lesions. METHODS: MR images of 23 patients with CNS melanocytic lesions diagnosed between January 2012 and June 2018 were analyzed. RESULTS: Most patients were female (14/23; 61%), with a median age of 47 years (range: 3 weeks to 72 years). The primary melanocytic lesions accounted for 8/19 cases (42.1%), which included neurocutaneous melanosis, meningeal melanocytomas and primary malignant melanomas. Secondary melanocytic lesions (metastatic) accounted for 10/19 cases (52.6%). There was one case of a tumor with secondary melanization, from a melanocytic neuroectodermal tumor of infancy. There were also four cases of primary ocular melanomas. The most frequent findings were the cerebral location, high T1WI signal and marked contrast-enhancement. CONCLUSIONS: The present review describes the wide variety of melanocytic lesions that could affect the CNS, emphasizing the MRI characteristics. Knowledge of the imaging, clinical and epidemiological characteristics of CNS melanocytic lesions is essential for their correct interpretation, given the significant overlap between lesion features and the variable prognosis.
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Melanose , Nevo Pigmentado , Neoplasias Cutâneas , Adulto , Sistema Nervoso Central/patologia , Feminino , Humanos , Recém-Nascido , Melanose/complicações , Melanose/patologia , Nevo Pigmentado/complicações , Nevo Pigmentado/patologia , Estudos RetrospectivosRESUMO
ABSTRACT Background: Melanocytic lesions of the central nervous system (CNS) are an infrequent, broad and diverse group of entities, both benign and malignant, found in all age groups, with imaging findings ranging from well-circumscribed focal lesions to diffuse leptomeningeal involvement. On MRI, they are usually distinguished by a high signal on T1WI sequences, given the paramagnetic effect of melanin, thus making it difficult to differentiate among them. Objective: To describe the imaging and epidemiological characteristics of a retrospective series of CNS melanocytic lesions. Methods: MR images of 23 patients with CNS melanocytic lesions diagnosed between January 2012 and June 2018 were analyzed. Results: Most patients were female (14/23; 61%), with a median age of 47 years (range: 3 weeks to 72 years). The primary melanocytic lesions accounted for 8/19 cases (42.1%), which included neurocutaneous melanosis, meningeal melanocytomas and primary malignant melanomas. Secondary melanocytic lesions (metastatic) accounted for 10/19 cases (52.6%). There was one case of a tumor with secondary melanization, from a melanocytic neuroectodermal tumor of infancy. There were also four cases of primary ocular melanomas. The most frequent findings were the cerebral location, high T1WI signal and marked contrast-enhancement. Conclusions: The present review describes the wide variety of melanocytic lesions that could affect the CNS, emphasizing the MRI characteristics. Knowledge of the imaging, clinical and epidemiological characteristics of CNS melanocytic lesions is essential for their correct interpretation, given the significant overlap between lesion features and the variable prognosis.
RESUMEN Antecedentes: Las lesiones melanocíticas del sistema nervioso central (SNC) corresponden a un grupo infrecuente, amplio y diverso de entidades, tanto benignas como malignas, encontradas en todos los grupos etarios, con hallazgos imagenológicos que van desde lesiones focales bien circunscritas hasta un compromiso leptomeníngeo difuso. A la RM se distinguen por la alta señal en la secuencia T1WI, dado el efecto paramagnético de la melanina, haciendo difícil la diferenciación entre ellas. Objetivo: Describir las características epidemiológicas y de de una serie retrospectiva de lesiones melanocíticas del SNC. Métodos: Revisión de imágenes de RM de 23 pacientes con lesiones melanocíticas del SNC diagnosticadas entre enero de 2012 y junio de 2018. Resultados: La mayoría de los pacientes fueron mujeres (14/23; 61%), con edades comprendidas entre las 3 semanas de vida hasta los 72 años. Las lesiones melanocíticas primarias representaron 8/19 (42,1%), incluyendo: melanosis neurocutáneas, melanocitomas meníngeos y melanomas malignos primarios. Las lesiones melanocíticas secundarias (metastásicas) representaron 10/19 casos (52,6%). Hubo un caso de tumor con melanización secundaria (tumor neuroectodermico melanocítico de la infancia). Se incluyeron cuatro casos de melanomas oculares primarios. Los hallazgos más frecuentes fueron la localización cerebral, el aumento de señal T1 y el acentuado realce con el gadolinio. Conclusiones: Se describe la amplia variedad de lesiones melanocíticas encontradas en el SNC, enfatizando sus características a la RM. El conocimiento de sus características imagenológicas, clínicas y epidemiológicas es fundamental para su correcta interpretación, dado la notable superposición entre las presentaciones de las lesiones y lo variable de sus pronósticos.
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Humanos , Feminino , Recém-Nascido , Adulto , Melanose/complicações , Melanose/patologia , Nevo Pigmentado/complicações , Nevo Pigmentado/patologia , Neoplasias Cutâneas , Sistema Nervoso Central/patologia , Estudos RetrospectivosRESUMO
BACKGROUND: Sennosides are commonly used for the treatment of constipation and associated with melanosis coli. In the present study, we evaluated the utility of melanosis coli as a marker of severity and its association with colonic motility in children with functional constipation. METHODS: Prospective study includes pediatric patients undergoing colonic manometry and colonic biopsies. Demographic data, medication history, surgical history, colonic manometry results (gastrocolonic response to a meal, high-amplitude propagating contractions, and nonpropagating contractions), colonic manometry catheter position, and pathologic results were collected and analyzed. We compared those variables with outcome (need for surgery) between both patient groups (presence or absence of melanosis coli). RESULTS: A total of 150 patients were included, median age was 9.9 years (range 2.1-18) and 77 (51.3%) were female, 17 had melanosis. Patients who took sennosides had higher rates of melanosis coli compared to those who did not (adjusted OR 13.88; 95% CI 4.05-47.57; P < 0.001), and we did not find an association between melanosis coli and use of other medications (osmotic laxatives, bisacodyl, lubiprostone), age, gender, weight, and height. We found no significant difference in the results colonic manometry between patients with and without melanosis coli. The rates of surgery for constipation between patients with and without melanosis coli were not statistically different. (OR 3.00; 95% CI 0.45-20.07; P = 0.257). CONCLUSIONS: Melanosis coli is associated with sennosides use, but it does not influence colonic motility nor is associated with increased subsequent need for surgery in pediatric functional constipation.
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Doenças do Colo , Melanose , Adolescente , Criança , Pré-Escolar , Colo/patologia , Doenças do Colo/patologia , Constipação Intestinal/tratamento farmacológico , Feminino , Motilidade Gastrointestinal/fisiologia , Humanos , Masculino , Manometria/métodos , Melanose/complicações , Melanose/patologia , Estudos Prospectivos , SenosídeosRESUMO
Neurocutaneous melanocytosis (NCM) is a disorder characterized by multiple or large congenital nevi and excessive proliferation of melanocytes in the leptomeninges and brain parenchyma. The majority of NCM is a result of somatic mosaicism due to a single postzygotic mutation in codon 61 of NRAS. Patients with NCM are at high risk of developing leptomeningeal melanoma. The prognosis for leptomeningeal melanoma is poor with no known effective treatment options. We describe the clinical features, treatment, and outcome of 4 children with NCM and leptomeningeal melanoma and discuss the latest molecular findings and treatment options for this rare condition.
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GTP Fosfo-Hidrolases/genética , Melanoma/patologia , Melanose/complicações , Proteínas de Membrana/genética , Neoplasias Meníngeas/patologia , Síndromes Neurocutâneas/complicações , Adolescente , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Melanoma/tratamento farmacológico , Melanoma/etiologia , Melanose/genética , Melanose/patologia , Neoplasias Meníngeas/tratamento farmacológico , Neoplasias Meníngeas/etiologia , Mutação , Síndromes Neurocutâneas/genética , Síndromes Neurocutâneas/patologia , Prognóstico , Estudos Retrospectivos , Adulto JovemAssuntos
Melanose/complicações , Melanose/diagnóstico por imagem , Síndromes Neurocutâneas/complicações , Síndromes Neurocutâneas/diagnóstico por imagem , Nevo/etiologia , Encéfalo/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética/métodos , Coluna Vertebral/diagnóstico por imagemRESUMO
INTRODUCTION: Neurocutaneous melanosis (NCM) is a rare congenital syndrome. Except for some retrospective studies, information on clinical follow-up and management of these patients are limited. This study aimed to review our experience on diagnostic protocol and clinical follow-up of patients with NCM in a referral children's hospital in Iran. METHODS: Between 2012 and 2019, eight patients with NCM were consecutively managed in our center. Brain magnetic resonance imaging and cutaneous biopsy were done in all patients at diagnosis. Follow-up surveillance and characteristics of the disease are described. RESULTS: The mean follow-up period was 25.75 ± 13.81 months, and 75% of patients were male. Most magnetic resonance imaging findings were hypersignal lesions in the temporal lobe (75%), cerebellum (62.5%), brainstem (50%), and thalamus (12.5%). Dandy-Walker syndrome was found in 4 patients (50%), and shunt-dependent hydrocephalus was found in 3 patients (37.5%). Cutaneous malignant melanoma and malignant involvement of the central nervous system were found in 2 (25%) and 3 cases (37.5%), respectively. The mortality rate was 37.5%. CONCLUSIONS: There are no specific guidelines for management of NCM due to the rarity of the disease. This study proposed modifications in diagnostic criteria, as well as recommendations for follow-up surveillance.
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Encéfalo/diagnóstico por imagem , Neoplasias do Sistema Nervoso Central/patologia , Hidrocefalia/diagnóstico por imagem , Melanoma/patologia , Melanose/diagnóstico por imagem , Síndromes Neurocutâneas/diagnóstico por imagem , Neoplasias Cutâneas/patologia , Pele/patologia , Assistência ao Convalescente , Biópsia , Tronco Encefálico/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Derivações do Líquido Cefalorraquidiano , Pré-Escolar , Síndrome de Dandy-Walker/complicações , Síndrome de Dandy-Walker/diagnóstico por imagem , Progressão da Doença , Feminino , Hospitais Pediátricos , Humanos , Hidrocefalia/etiologia , Lactente , Recém-Nascido , Irã (Geográfico) , Imageamento por Ressonância Magnética , Masculino , Melanose/complicações , Melanose/patologia , Síndromes Neurocutâneas/complicações , Síndromes Neurocutâneas/patologia , Nevo Pigmentado/patologia , Lobo Temporal/diagnóstico por imagem , Centros de Atenção Terciária , Tálamo/diagnóstico por imagemRESUMO
An elderly white man with a history of left oculodermal melanocytosis presented with new onset brown pigmentation of the left bulbar and inferior tarsal conjunctiva. The bulbar conjunctival pigmentation was at the level of the conjunctival epithelium and was overlying areas of typical slate-grey scleral pigmentation characteristic of oculodermal melanocytosis. Both areas of new pigmentation were biopsied. The bulbar conjunctiva revealed primary acquired melanosis (PAM) without atypia with increased melanin production and the tarsal conjunctival biopsy showed PAM without atypia sine pigmentio overlying areas of substantia propria spindle-shaped heavily pigmented melanocytes of oculodermal melanocytosis. The case report examines the relationship between the epithelial and substantia propria melanocytes and correlates the findings with what is known about this association from the dermatopathology literature.
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Neoplasias da Túnica Conjuntiva/patologia , Melanose/patologia , Nevo de Ota/patologia , Neoplasias Cutâneas/patologia , Idoso de 80 Anos ou mais , Túnica Conjuntiva/patologia , Neoplasias da Túnica Conjuntiva/complicações , Humanos , Masculino , Melanócitos/patologia , Melanose/complicações , Nevo de Ota/complicações , Neoplasias Cutâneas/complicaçõesRESUMO
Neurocutaneous melanosis (NCM; MIM # 249400; ORPHA: 2481], first reported by the Bohemian pathologist Rokitansky in 1861, and now more precisely defined as neurocutaneous melanocytosis, is a rare, congenital syndrome characterised by the association of (1) congenital melanocytic nevi (CMN) of the skin with overlying hypertrichosis, presenting as (a) large (LCMN) or giant and/or multiple (MCMN) melanocytic lesions (or both; sometimes associated with smaller "satellite" nevi) or (b) as proliferative melanocytic nodules; and (2) melanocytosis (with infiltration) of the brain parenchyma and/or leptomeninges. CMN of the skin and leptomeningeal/nervous system infiltration are usually benign, more rarely may progress to melanoma or non-malignant melanosis of the brain. Approximately 12% of individuals with LCMN will develop NCM: wide extension and/or dorsal axial distribution of LCMN increases the risk of NCM. The CMN are recognised at birth and are distributed over the skin according to 6 or more patterns (6B patterns) in line with the archetypical patterns of distribution of mosaic skin disorders. Neurological manifestations can appear acutely in infancy, or more frequently later in childhood or adult life, and include signs/symptoms of intracranial hypertension, seizures/epilepsy, cranial nerve palsies, motor/sensory deficits, cognitive/behavioural abnormalities, sleep cycle anomalies, and eventually neurological deterioration. NMC patients may be symptomatic or asymptomatic, with or without evidence of the typical nervous system changes at MRI. Associated brain and spinal cord malformations include the Dandy-Walker malformation (DWM) complex, hemimegalencephaly, cortical dysplasia, arachnoid cysts, Chiari I and II malformations, syringomyelia, meningoceles, occult spinal dysraphism, and CNS lipoma/lipomatosis. There is no systemic involvement, or only rarely. Pathogenically, single postzygotic mutations in the NRAS (neuroblastoma RAS viral oncogene homologue; MIM # 164790; at 1p13.2) proto-oncogene explain the occurrence of single/multiple CMNs and melanocytic and non-melanocytic nervous system lesions in NCM: these disrupt the RAS/ERK/mTOR/PI3K/akt pathways. Diagnostic/surveillance work-ups require physical examination, ophthalmoscopy, brain/spinal cord magnetic resonance imaging (MRI) and angiography (MRA), positron emission tomography (PET), and video-EEG and IQ testing. Treatment strategies include laser therapy, chemical peeling, dermabrasion, and surgical removal/grafting for CMNs and shunt surgery and surgical removal/chemo/radiotherapy for CNS lesions. Biologically targeted therapies tailored (a) BRAF/MEK in NCM mice (MEK162) and GCMN (trametinib); (b) PI3K/mTOR (omipalisib/GSK2126458) in NMC cells; (c) RAS/MEK (vemurafenib and trametinib) in LCMNs cells; or created experimental NMC cells (YP-MEL).
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Melanose , Síndromes Neurocutâneas , Nevo Pigmentado , Adulto , Animais , Humanos , Imageamento por Ressonância Magnética , Melanose/complicações , Camundongos , Síndromes Neurocutâneas/complicações , Síndromes Neurocutâneas/diagnóstico por imagem , Nevo Pigmentado/complicações , Fosfatidilinositol 3-Quinases , Proto-Oncogene Mas , Tomografia Computadorizada por Raios XRESUMO
Oral pigmented lesions have a wide range of clinical presentations, some of which correlate with cutaneous pigmented lesions. This article highlights these correlates and underscores important differences that can potentially have clinical impact. Moreover, given a nonspecific presentation of an oral pigmented lesion, the article provides a reference to aid clinicians with differential diagnoses based on clinical features. This article is an overview of pigmented lesions of the oral cavity, including localized reactive pigmented lesions, neoplastic pigmented lesions, and pigmented lesions as sequelae of a systemic disease.
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Hiperpigmentação/etiologia , Melanoma/diagnóstico , Doenças da Boca/diagnóstico , Doenças da Boca/etiologia , Nevo Pigmentado/diagnóstico , Doença de Addison/complicações , Amálgama Dentário/efeitos adversos , Corpos Estranhos/complicações , Hemocromatose/complicações , Humanos , Intoxicação por Chumbo/complicações , Melanoma/complicações , Melanose/complicações , Melanose/diagnóstico , Doenças da Boca/terapia , Neoplasias Bucais/complicações , Neoplasias Bucais/diagnóstico , Neoplasias Bucais/terapia , Tumor Neuroectodérmico Melanótico/complicações , Neurofibromatoses/complicações , Nevo Pigmentado/complicações , Nevo Pigmentado/terapia , Síndrome de Peutz-Jeghers/complicações , Hipersecreção Hipofisária de ACTH/complicações , Sarcoma de Kaposi/complicações , Tatuagem/efeitos adversosAssuntos
Síndrome de Klippel-Trenaunay-Weber/complicações , Melanose/complicações , Síndromes Neurocutâneas/complicações , Idoso , Feminino , Humanos , Síndromes Neurocutâneas/diagnóstico , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/etiologia , Doenças da Esclera/diagnóstico , Doenças da Esclera/etiologiaRESUMO
A 1-day-old child was brought to the clinic for evaluation of enlarged right eye (OD). On examination, OD showed buphthalmos with diffuse scleral melanocytosis, fleshy blackish-brown extrascleral mass with corneal extension, and secondary glaucoma. Anterior segment evaluation revealed darkly pigmented iris and fundus evaluation OD revealed a darkly pigmented choroidal lesion. The left eye was within normal limits. A clinical diagnosis of choroidal melanocytoma with ocular melanocytosis was made. Enucleation OD followed by orbital implant was performed. Histopathology showed features of diffuse ocular melanocytosis involving limbus, iris, ciliary body, choroid, sclera, optic nerve head, optic nerve sheath, along with choroidal melanocytoma with extrascleral tumour extension. We presume that choroidal melanocytoma may have arisen from ocular melanocytosis.
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Neoplasias da Coroide/congênito , Hidroftalmia/diagnóstico , Melanoma/patologia , Melanose/complicações , Neoplasias da Coroide/diagnóstico por imagem , Neoplasias da Coroide/patologia , Neoplasias da Coroide/cirurgia , Diagnóstico Diferencial , Enucleação Ocular/métodos , Neoplasias Oculares/diagnóstico por imagem , Neoplasias Oculares/patologia , Fundo de Olho , Humanos , Hidroftalmia/etiologia , Lactente , Masculino , Melanose/patologia , Doenças da Esclera/patologia , Resultado do TratamentoRESUMO
Koolen-de Vries syndrome (KdVS), also referred to as the 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental delay, typical facial dysmorphism, and congenital defects. Associated anomalies include many cutaneous findings. Here, we report a 17-year-old boy with KdVS (17q21.31 microdeletion syndrome) who presented with diffuse freckling and multiple pigmented lesions, found to be most consistent with atypical café-au-lait macules (CALMs) on biopsy. We review the cutaneous findings commonly associated with KdVS (17q21.31 microdeletion syndrome) and propose the addition of diffuse freckling and atypical CALMs, histologically similar to those that may be found in neurofibromatosis type 1, to the cutaneous findings associated with KdVS (17q21.31 microdeletion syndrome).