Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 1.911
Filtrar
Mais filtros

Intervalo de ano de publicação
1.
Curr Opin Pediatr ; 36(4): 411-417, 2024 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-38957127

RESUMO

PURPOSE OF REVIEW: Congenital melanocytic nevi (CMN) and acquired nevi are prevalent in pediatric populations, with distinct characteristics and management considerations. This chapter aims to equip pediatricians with knowledge to discern between benign and high-risk nevi, facilitating appropriate referrals and management within primary care settings. Risk factors associated with malignant melanoma (MM) underscore the importance of vigilant monitoring and early referral to dermatology for suspicious lesions. RECENT FINDINGS: Recent findings highlight the variability in CMN presentation and the evolving diagnostic strategies, emphasizing the need for multidisciplinary approaches to optimize patient outcomes. SUMMARY: Management of CMN involves tailored surveillance and intervention strategies, with an emphasis on early identification of high-risk features for MM and neurocutaneous melanosis (NCM). Pediatricians play a crucial role in advocating for sun protection practices and facilitating timely referrals, thereby contributing to the overall well being of pediatric patients with nevi.


Assuntos
Melanoma , Nevo Pigmentado , Encaminhamento e Consulta , Neoplasias Cutâneas , Humanos , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/terapia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/terapia , Criança , Melanoma/diagnóstico , Melanoma/terapia , Fatores de Risco
2.
J Cutan Pathol ; 51(9): 680-684, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38837468

RESUMO

An 11-year-old female was referred from an outside institution after a diagnostic biopsy and subsequent excision of a progressively enlarging reddish-brown nodule demonstrated features concerning for a balloon cell nevus with severe atypia versus a high-grade melanocytoma. Upon review of the initial biopsy specimen and molecular data, we favored the diagnosis to be consistent with a high-grade melanocytoma with balloon cell changes while considering the possibility of balloon cell melanoma due to concerning histopathologic and genetic abnormalities. In this case study, we discuss critical diagnostic considerations in this rare pediatric case and highlight important pathologic and clinical features of melanocytomas and balloon cell melanoma.


Assuntos
Melanoma , Nevo Pigmentado , Neoplasias Cutâneas , Humanos , Feminino , Melanoma/diagnóstico , Melanoma/patologia , Criança , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/diagnóstico , Nevo Pigmentado/patologia , Nevo Pigmentado/diagnóstico , Diagnóstico Diferencial , Melanócitos/patologia
3.
Clin Exp Dermatol ; 49(6): 584-590, 2024 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-38306117

RESUMO

BACKGROUND: S100A8 is a melanoma biomarker expressed in the melanoma-associated epidermal keratinocytes, but its diagnostic utility has not been compared with other biomarkers, including PRAME. OBJECTIVES: To compare the utility of S100A8 and PRAME immunohistochemistry (IHC) in the differential diagnosis of melanoma and naevi in a case-control study. METHODS: A previously described cohort of 209 melanomas (case samples) and naevi (control samples) dual-immunostained for S100A8 and PRAME were included. For S100A8, previously reported scores indicating the proportion of tumour-associated epidermis stained (0 = indeterminate; 1 = 0-4%; 2 = 5-25%; 3 = 26-50%; 4 = 51-75%; 5 = > 75%) were utilized. PRAME IHC was reviewed by at least two reviewers and a consensus score assigned, with score indicating the proportion of tumour stained (0 = indeterminate; 1 = 0%; 2 = 1-50%; 3 = > 50%). A positive test was defined as > 50% staining. RESULTS: The area under the receiver operating characteristic curves for S100A8 (0.833) and PRAME (0.874) were not significantly different from each other (P = 0.22). The diagnostic sensitivity and specificity were 42.4% [95% confidence interval (CI) 32.6-52.8%] and 98.2% (95% CI 93.6-99.8%) for S100A8, and 79.8% (95% CI 70.5-87.2%) and 87.3% (95% CI 79.6-92.9%) for PRAME, respectively. A combined test requiring both S100A8 and PRAME IHC positivity had a sensitivity of 39.4% (95% CI 29.7-49.7%) and specificity of 99.1% (95% CI 95.0-100.0%). CONCLUSIONS: S100A8 and PRAME have utility in the diagnostic workup of melanoma, with S100A8 being more specific and PRAME being more sensitive when using this threshold. Our findings suggest that these two immunohistochemical markers may favourably complement one another to improve the detection of melanoma.


Assuntos
Antígenos de Neoplasias , Biomarcadores Tumorais , Calgranulina A , Imuno-Histoquímica , Melanoma , Nevo Pigmentado , Neoplasias Cutâneas , Humanos , Melanoma/diagnóstico , Melanoma/metabolismo , Melanoma/patologia , Calgranulina A/metabolismo , Calgranulina A/análise , Estudos de Casos e Controles , Diagnóstico Diferencial , Biomarcadores Tumorais/metabolismo , Biomarcadores Tumorais/análise , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/metabolismo , Nevo Pigmentado/patologia , Antígenos de Neoplasias/metabolismo , Antígenos de Neoplasias/análise , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Curva ROC , Sensibilidade e Especificidade , Masculino , Feminino , Pessoa de Meia-Idade , Adulto
4.
J Drugs Dermatol ; 23(9): 717-723, 2024 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-39231084

RESUMO

BACKGROUND: Numerous melanoma-specific dermoscopic features have been described in invasive melanomas, while fewer features are found in melanoma in situ (MIS) and atypical nevi (ATN). Consensus regarding which features are critical for the differentiation of MIS from ATN has not been reached. PURPOSE: Determine 1) whether there are dermoscopic features that differentiate early MIS from ATN, and 2) whether non-invasive assessment of genomic biomarkers (LINC00518 and PRAME) can aid in patient management. METHODS: From 2018 to 2023, 56 melanomas were evaluated for 5 clinical and 13 dermoscopic features and melanoma-associated genomic biomarkers. Two groups of ATN with positive and negative genomic biomarkers were randomly selected for comparison. RESULTS: All melanomas in this study expressed one or both melanoma-associated genomic markers. MIS had an average of 3.90 (range, 2-7) of the 13 dermoscopic features, while invasive melanomas had an average of 4.44 (range, 3-6). Sixteen of 40 (40%) MIS and 3 of 16 (18.8%) invasive melanomas had 3 or fewer dermoscopic features. These findings were comparable to those observed in both ATN groups. The most common dermoscopic features were absent or diminished pigment network, regression structures, and granularity. This combination of features was most helpful in identifying lesions for genomic testing. CONCLUSIONS: Clinical and dermoscopic features alone could not differentiate MIS from ATN. Non-invasive genomic testing helped differentiate lower from higher-risk lesions and aid in clinical management decisions. Genomic testing was particularly helpful in patients with large numbers of lesions with several being considered for biopsy based on clinical and dermoscopic examination. J Drugs Dermatol. 2024;23(9):717-723. doi:10.36849/JDD.8454.


Assuntos
Dermoscopia , Melanoma , Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/diagnóstico , Melanoma/genética , Melanoma/patologia , Melanoma/diagnóstico , Feminino , Masculino , Pessoa de Meia-Idade , Diagnóstico Diferencial , Idoso , Adulto , Genômica , Biomarcadores Tumorais/genética , Nevo Pigmentado/genética , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/patologia , Idoso de 80 Anos ou mais
5.
Pediatr Dermatol ; 41(5): 908, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39327365

RESUMO

Nevus simplex, also called a "salmon patch" or "stork bite," is a special mark that some babies are born with. It is very common and doesn't hurt.


Assuntos
Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/diagnóstico , Recém-Nascido , Nevo Pigmentado/patologia , Nevo Pigmentado/diagnóstico , Nevo/patologia , Nevo/diagnóstico
6.
Pediatr Dermatol ; 41(2): 318-319, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38494778

RESUMO

Congenital melanocytic nevi (CMN) are special types of moles. CMN happen when extra pigment-making cells (melanocytes) grow in a baby's skin while the baby is forming before birth. They are not caused by anything their parent did or didn't do during pregnancy. These moles are there when the baby is born, stay on the skin for life, and grow as the child grows.


Assuntos
Toupeiras , Nevo Pigmentado , Neoplasias Cutâneas , Lactente , Criança , Humanos , Animais , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/congênito , Melanócitos , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/congênito , Pele
7.
Pediatr Dermatol ; 41(5): 878-880, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38561464

RESUMO

A 4-month-old male presented for a large, hypertrichotic brown patch on the upper back with several scattered 0.5-1.5 cm, round to oval, brown macules and patches on the trunk and extremities. The lesion was initially diagnosed as a giant congenital melanocytic nevus based on clinical exam and histopathology with immunohistochemical stains. The patient was later diagnosed with neurofibromatosis type 1, and the lesion on the back developed a "bag of worms" texture consistent with a plexiform neurofibroma and found to harbor a pathogenic variant in the NF1 gene. This case highlights the diagnostic challenge of differentiating these lesions and their overlapping clinical and histopathological features.


Assuntos
Neurofibroma Plexiforme , Nevo Pigmentado , Neoplasias Cutâneas , Humanos , Masculino , Neurofibroma Plexiforme/diagnóstico , Neurofibroma Plexiforme/patologia , Nevo Pigmentado/patologia , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/congênito , Lactente , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/congênito , Diagnóstico Diferencial , Neurofibromatose 1/diagnóstico
8.
Am Fam Physician ; 109(3): 217-221, 2024 03.
Artigo em Inglês | MEDLINE | ID: mdl-38574211

RESUMO

Birthmarks in newborns can be classified as vascular, melanocytic or pigmented, or markers of underlying developmental abnormalities of the nervous system. A nevus simplex is a benign capillary malformation. Newborns with a nevus flammeus can be safely treated before one year of age with a pulsed dye laser to reduce the visibility of lesions. Infantile hemangiomas should be treated with systemic beta blockers if there is a risk of life-threatening complications, functional impairment, ulceration, underlying abnormalities, permanent scarring, or alteration of anatomic landmarks. Dermal melanocytosis is a benign finding that is easily recognized and does not warrant further evaluation. A solitary congenital melanocytic nevus that is less than 20 cm in diameter may be observed in primary care; children with larger or multiple nevi should be referred to pediatric dermatology due to the risk of melanoma. Newborns with skin markers of occult spinal dysraphism (other than a simple, solitary dimple) should have lumbar spine imaging using ultrasonography or magnetic resonance imaging.


Assuntos
Melanoma , Nevo Pigmentado , Neoplasias Cutâneas , Criança , Humanos , Recém-Nascido , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/terapia , Nevo Pigmentado/congênito , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/terapia , Pele/patologia , Melanoma/patologia , Imageamento por Ressonância Magnética
9.
Ann Diagn Pathol ; 72: 152332, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38776734

RESUMO

Tubulin ß-3 staining pattern and staining intensity of 5-hydroxymethyl cytosine (5-hmC) are potential diagnostic and prognostic markers in melanocytic lesions that need further evaluation. Melanocytic nevi and primary cutaneous melanomas were immunohistochemically stained for tubulin-ß-3 and 5-hmC. Immunoreactivity and staining patterns were correlated with Breslow-thickness, clinical and pathological characteristics, and progression-free survival. Melanocytes showed positive tubulin ß-3 staining. However, in most nevi, tubulin ß-3 staining appeared as a gradient with intense cytoplasmic staining in cells of the superficial part of the lesion that faded to weak staining in the deep dermal part, while no gradient was found in deep penetrating nevi and melanomas. In 53 % of the melanomas, areas with loss of tubulin ß-3 staining were found. 5-hmC staining intensity was significantly higher in melanocytic nevi compared to melanomas. Breslow thickness in combination with low 5-hmC score and loss of tubulin-ß-3 staining was predictive for poor prognosis. As single markers, tubulin-ß-3 and 5-hmC can be useful to distinguish between melanocytic nevi and melanoma, but staining variability limits the use of 5-hmC. In melanomas measuring >1.5 mm, combination of low 5-hmC score and loss of tubulin-ß-3 staining may have prognostic value.


Assuntos
5-Metilcitosina , Biomarcadores Tumorais , Melanoma , Neoplasias Cutâneas , Tubulina (Proteína) , Humanos , Melanoma/diagnóstico , Melanoma/metabolismo , Melanoma/patologia , Biomarcadores Tumorais/metabolismo , Biomarcadores Tumorais/análise , Prognóstico , Masculino , Feminino , Tubulina (Proteína)/metabolismo , Tubulina (Proteína)/análise , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/metabolismo , Pessoa de Meia-Idade , 5-Metilcitosina/análogos & derivados , 5-Metilcitosina/metabolismo , 5-Metilcitosina/análise , Idoso , Adulto , Imuno-Histoquímica/métodos , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/patologia , Nevo Pigmentado/metabolismo , Melanoma Maligno Cutâneo , Idoso de 80 Anos ou mais , Melanócitos/patologia , Melanócitos/metabolismo
10.
Cesk Patol ; 60(1): 12-34, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38697825

RESUMO

Melanocytic lesions are instable tumors, the genome of which and its changes determinate their morphology and biological properties. Intermediate lesions share histomorphological features of both, nevi and melanoma. Melanocytomas represent a group of them separated on the basis of recent molecular-biological studies. The article summarizes benign, intermediate, malignant and combined melanocytic skin lesions and offers practical recommendations for diagnosis.


Assuntos
Melanoma , Nevo Pigmentado , Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/diagnóstico , Melanoma/patologia , Melanoma/diagnóstico , Nevo Pigmentado/patologia , Nevo Pigmentado/diagnóstico
11.
Clin Genet ; 104(5): 593-597, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37501405

RESUMO

Nevus spilus (NS) is composed of multiple types that characterized by a congenital hyperpigmented patch within variable even superimposed lesions originating from melanocytic lineage cells. The molecular mechanism and classification of diverse NS phenotypes remain unclear. Five children with a phenotype of NS were genotyped by the panel based on next-generation sequencing in this study. DNA from biopsies, blood samples and hair follicle were sequenced to confirm the presence of a somatic mutation. Sequencing results indicated somatic mutation in the gene of NRAS or HRAS in all biopsies from the nevi, and the pathogenic variants were not detected in the samples of blood and hair follicle. This study successfully identified the somatic mutation in five unrelated children with diverse NS phenotypes. Moreover, it provided typical images and differential diagnoses between variable NS phenotypes in clinical, pathological, and genetic features, and first proposed a clinical diagnostic algorithm that contributed to simplifying and optimizing the diagnoses and management of these overlapped diseases.


Assuntos
Nevo Pigmentado , Nevo , Neoplasias Cutâneas , Criança , Humanos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/genética , Nevo Pigmentado/congênito , Nevo/diagnóstico , Nevo/genética , Fenótipo , Algoritmos
12.
Am J Med Genet A ; 191(9): 2411-2415, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37313780

RESUMO

Neurofibromatosis type 1 is an autosomal dominant multisystemic disease caused by mutation of the neurofibromin (NF1) gene located on chromosome 17q11. We report a case of Neurofibromatosis 1 with ambiguous genitalia, giant congenital melanocytic nevus, and associated subpulmonic outlet ventricular septal defect, hitherto unreported in sub-Saharan Africa. In addition, a literature review of congenital heart diseases associated with Neurofibromatosis 1 is presented.


Assuntos
Transtornos do Desenvolvimento Sexual , Comunicação Interventricular , Neurofibromatose 1 , Nevo Pigmentado , Humanos , Criança , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/genética , Nevo Pigmentado/congênito
13.
J Cutan Pathol ; 50(8): 763-772, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37114299

RESUMO

BACKGROUND: PRAME (PReferentially expressed Antigen in MElanoma) is a tumor-associated antigen that has been studied in various cutaneous melanocytic lesions. p16, on the other hand, has been proposed to aid in distinguishing between benign and malignant melanocytic neoplasms. Studies on the diagnostic utility of PRAME and p16 in combination in differentiating nevi from melanoma are limited. We aimed to assess the diagnostic utility of PRAME and p16 in melanocytic tumors and their role in distinguishing between malignant melanomas and melanocytic nevi. METHODS: This is a single-center retrospective cohort analysis over a 4-year period (2017-2020). We used the pathological database of malignant melanomas (77 cases) and melanocytic nevi (51 cases) specimens from patients who underwent shave/punch biopsies or surgical excisions and evaluated immunohistochemical staining percentage positivity and intensity for PRAME and p16. RESULTS: Most malignant melanomas showed positive/diffuse PRAME expression (89.6%); on the other hand, 96.1% of nevi did not express PRAME diffusely. p16 was expressed consistently in nevi (98.0%). However, p16 expression in malignant melanoma was infrequent in our study. PRAME had a sensitivity and specificity of 89.6% and 96.1%, respectively, for melanomas versus nevi; on the other hand, p16 had a sensitivity and specificity of 98.0% and 28.6%, respectively, for nevi versus melanoma. Also, a PRAME+/p16- melanocytic lesion is unlikely to be a nevus where most nevi were PRAME-/p16+. CONCLUSION: In conclusion, we confirm the potential utility of PRAME and p16 for distinguishing melanocytic nevi from malignant melanomas.


Assuntos
Melanoma , Nevo de Células Epitelioides e Fusiformes , Nevo Pigmentado , Nevo , Neoplasias Cutâneas , Humanos , Estudos Retrospectivos , Imuno-Histoquímica , Biomarcadores Tumorais/metabolismo , Melanoma/patologia , Neoplasias Cutâneas/patologia , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/patologia , Nevo/patologia , Nevo de Células Epitelioides e Fusiformes/diagnóstico , Antígenos de Neoplasias/análise , Diagnóstico Diferencial , Melanoma Maligno Cutâneo
14.
Pathol Int ; 73(1): 27-36, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36468840

RESUMO

The diagnostic role of preferentially expressed antigen in melanoma (PRAME) immunohistochemistry has not been thoroughly evaluated for acral melanocytic tumors. The objective of this study was to evaluate the utility of this modality for the diagnosis of acral melanocytic tumors compared with other potential markers. Melanocytic tumors were classified as either acral nevi, challenging melanocytic tumors (superficial atypical melanocytic proliferation of uncertain significance (SAMPUS)-favor benign (SAMPUS-FB), SAMPUS-favor malignant (SAMPUS-FM)) or acral melanomas. A total of 106 acral melanocytic tumors including acral nevi (n = 32), SAMPUS-FB (n = 17), SAMPUS-FM (n = 20), and acral melanomas (n = 37) were included. Diagnostic power, assessed using an area under the receiver operating characteristic curve (AUC) for distinguishing acral melanomas and acral nevi, was highest for PRAME (AUC = 0.997), followed by c-Myc (AUC = 0.755), cyclin D1 (AUC = 0.652), and c-Kit (AUC = 0.573). At a PRAME expression level ≥30% as a positive test for acral melanoma, the sensitivity and specificity of this marker for discriminating acral melanoma from acral nevus were 100% and 96.9%, respectively. PRAME immunohistochemistry also discriminated SAMPUS-FM from SAMPUS-FB with a sensitivity and specificity of 90.0% and 76.5%, respectively. In conclusion, PRAME immunohistochemistry can be used effectively to distinguish between various spectra of acral melanocytic neoplasms.


Assuntos
Melanoma , Nevo Pigmentado , Neoplasias Cutâneas , Humanos , Antígenos de Neoplasias , Ciclina D1 , Diagnóstico Diferencial , Imuno-Histoquímica , Melanoma/patologia , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/patologia , Proteínas Proto-Oncogênicas c-kit , Neoplasias Cutâneas/patologia , Melanoma Maligno Cutâneo
15.
Oral Dis ; 29(7): 2723-2733, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36565435

RESUMO

OBJECTIVE: 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. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSION: 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.


Assuntos
Melanoma , Nevo Pigmentado , Neoplasias Cutâneas , Humanos , Feminino , Idoso , Masculino , Mucosa Bucal/patologia , Estudos Transversais , Nevo Pigmentado/epidemiologia , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/patologia , Melanoma/epidemiologia , Melanoma/diagnóstico , Melanoma/patologia
16.
Dermatol Surg ; 49(10): 926-931, 2023 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-37556446

RESUMO

BACKGROUND: Survival outcomes in acral lentiginous melanoma (ALM) are worse than for cutaneous melanoma. Diagnostic delays are believed to contribute to worse outcomes in ALM, including advanced-stage disease at initial presentation. Acral lentiginous melanoma, especially in its early stages, may be difficult to discern from benign pigmented acral lesions. OBJECTIVE: The purpose of this article is to provide a comprehensive review of the diagnosis and management of acral pigmented lesions. MATERIALS AND METHODS: A literature review was performed. The outcomes included were the clinical and dermoscopic features and the management frameworks and considerations for acquired and congenital melanocytic nevi, acral melanosis, nonmelanocytic pigmented lesions, and ALM. RESULTS: Original research studies were primarily included. The use of dermoscopy, such as the 3-step algorithm and blotch (irregular), ridge pattern (parallel), asymmetry of structures, asymmetry of colors, furrow pattern (parallel), fibrillar pattern (BRAAFF) checklist, increases the diagnostic accuracy of acral pigmented lesions with high specificity and sensitivity. Short-term digital dermoscopic surveillance can be used to manage acral lesions, and histopathology should be collected when there is a concern for ALM. CONCLUSION: The use of dermoscopy and an understanding of how to manage acral lesions may limit the number of biopsies performed on the acral skin, decrease the time to diagnosis, and facilitate early detection of ALM.


Assuntos
Melanoma , Nevo Pigmentado , Neoplasias Cutâneas , Humanos , Melanoma/diagnóstico , Melanoma/terapia , Melanoma/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/terapia , Neoplasias Cutâneas/epidemiologia , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/terapia , Dermoscopia , Melanoma Maligno Cutâneo
17.
Am J Dermatopathol ; 45(7): 437-447, 2023 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-37338065

RESUMO

ABSTRACT: Proliferative nodules (PNs) are benign melanocytic proliferations that typically develop within congenital melanocytic nevi. These tumors have overlapping histological features with melanoma. Ancillary immunohistochemistry and genomic sequencing are often used in diagnostically challenging cases. To assess the utility of preferentially expressed antigen in melanoma (PRAME) immunoreactivity and telomerase reverse transcriptase (TERT) promoter mutation analysis in distinguishing PNs from melanoma arising in congenital nevi cases. Twenty-one PNs and 2 melanomas arising in congenital nevi were immunohistochemically stained with PRAME. Cases with adequate tissue were also assessed for TERT promoter mutations through sequencing studies. The positivity rates in the PN cases were compared with those of the melanomas. Two of 21 PN cases were diffusely positive for PRAME (≥75% of the tumor cells positive). Two of 2 melanomas arising in congenital nevus cases were also diffusely PRAME positive. The difference was statistically significant using a Fisher exact test. None of the tumors harbored TERT promoter mutations. PRAME immunohistochemical marker may have diagnostic value in distinguishing diagnostically challenging PNs from melanoma, but diffuse expression is not specific for melanoma.


Assuntos
Melanoma , Nevo de Células Epitelioides e Fusiformes , Nevo Pigmentado , Neoplasias Cutâneas , Telomerase , Humanos , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/genética , Nevo Pigmentado/congênito , Biomarcadores Tumorais/análise , Melanoma/diagnóstico , Melanoma/genética , Melanoma/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Nevo de Células Epitelioides e Fusiformes/diagnóstico , Diagnóstico Diferencial , Telomerase/genética , Antígenos de Neoplasias/análise
18.
Genes Chromosomes Cancer ; 61(12): 740-746, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-35999193

RESUMO

Cutaneous skeletal hypophosphatemia syndrome (CSHS) is caused by somatic mosaic NRAS variants and characterized by melanocytic/sebaceous naevi, eye, and brain malformations, and FGF23-mediated hypophosphatemic rickets. The MEK inhibitor Trametinib, acting on the RAS/MAPK pathway, is a candidate for CSHS therapy. A 4-year-old boy with seborrheic nevus, eye choristoma, multiple hamartomas, brain malformation, pleural lymphangioma and chylothorax developed severe hypophosphatemic rickets unresponsive to phosphate supplementation. The c.182A > G;p.(Gln61Arg) somatic NRAS variant found in DNA from nevus biopsy allowed diagnosing CSHS. We administered Trametinib for 15 months investigating the transcriptional effects at different time points by whole blood RNA-seq. Treatment resulted in prompt normalization of phosphatemia and phosphaturia, catch-up growth, chylothorax regression, improvement of bone mineral density, reduction of epidermal nevus and hamartomas. Global RNA sequencing on peripheral blood mononucleate cells showed transcriptional changes under MEK inhibition consisting in a strong sustained downregulation of signatures related to RAS/MAPK, PI3 kinase, WNT and YAP/TAZ pathways, reverting previously defined transcriptomic signatures. CSHS was effectively treated with a MEK inhibitor with almost complete recovery of rickets and partial regression of the phenotype. We identified "core" genes modulated by MEK inhibition potentially serving as surrogate markers of Trametinib action.


Assuntos
Quilotórax , Hamartoma , Hipofosfatemia , Nevo Pigmentado , Nevo , Raquitismo Hipofosfatêmico , Neoplasias Cutâneas , DNA , GTP Fosfo-Hidrolases/genética , Humanos , Hipofosfatemia/diagnóstico , Hipofosfatemia/genética , Proteínas de Membrana/genética , Quinases de Proteína Quinase Ativadas por Mitógeno , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/genética , Nevo Pigmentado/metabolismo , Fosfatos , Fosfatidilinositol 3-Quinases , Raquitismo Hipofosfatêmico/genética , Neoplasias Cutâneas/genética , Síndrome
19.
Orbit ; 42(5): 553-557, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35298322

RESUMO

Epidermal nevus syndrome is a rare congenital disorder affecting only a few hundred people in the world. It has ophthalmic, dermatological, and neurological manifestations, with varied presentation. Here, we report a case of two-year-old child who presented with epibulbar mass in left eye, pigmented nevi over left side of the body and alopecia over left side of parieto-temporal scalp. Imaging confirmed epibulbar mass and presence of calcification of choroid on ipsilateral side with presence of arachnoid cyst of brain with underlying pachygyria. Neurological examination was normal and dermatologist confirmed presence of verrucous nevi over skin. Excisional biopsy of epibulbar mass revealed a complex choristoma with presence of lacrimal gland tissue. Underlying ocular findings were near normal with normal posterior segment. It is a rare form of epidermal nevus syndrome with near normal ocular findings in the presence of anterior and posterior choristoma, which has not been reported.


Assuntos
Coristoma , Nevo Pigmentado , Nevo , Neoplasias Cutâneas , Pré-Escolar , Humanos , Coristoma/diagnóstico , Coristoma/cirurgia , Coristoma/patologia , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/cirurgia , Nevo Pigmentado/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/cirurgia , Neoplasias Cutâneas/patologia
20.
Fetal Pediatr Pathol ; 42(6): 972-978, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37584237

RESUMO

BACKGROUND: Giant congenital melanocytic nevus (GCMN) is characterized by its large size and potential for transformation into melanoma. It can be associated with other neural cristopathies, including neurofibroma, however, it has not previously been described with a congenital neurofibroma. CASE REPORT: A newborn girl presented with a large congenital neurofibroma arising in a bathing trunk type of giant congenital melanocytic nevus. CONCLUSION: Congenital neurofibromas can be associated with (or a component of) a GCMN.


Assuntos
Melanoma , Neurofibroma , Nevo Pigmentado , Neoplasias Cutâneas , Recém-Nascido , Feminino , Humanos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/congênito , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/congênito
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA