Ceratodermia palmoplantar é um grupo heterogêneo de doenças caracterizadas por espessamento anormal das palmas das mãos e distúrbio nas solas dos pés.
Introdução
O que você precisa saber de cara
Neoplasia maligna rara que se origina nas mucosas, como boca, nariz, ânus ou genitais. Apresenta-se como lesões pigmentadas ou ulceradas de crescimento rápido e alto potencial metastático.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Melanoma maligno da mucosa
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Establishment and characterization of a cell line (OS-MM) originating from a human malignant melanoma of the oral mucosa.
The prognosis for patients diagnosed with oral mucosal melanoma is poor, and the etiology of this disease remains to be elucidated. The underlying reason for this is that no malignant melanoma (MM) cell line derived from oral mucosal tissue has been successfully established to date. The establishment of a human MM cell line designated OS-MM from a tissue sample of a patient diagnosed with palatal mucosal melanoma was undertaken. For a period exceeding three decades, tumor cells have undergone uninterrupted proliferation, exhibiting a spindle-like morphology. Chromosomes exhibit a low-triploid pattern with an observed mode of 47. Heterotransplantation of the cells into SCID mice has resulted in the formation of tumor masses. The cells expressed vascular endothelial growth factor (VEGF) and its receptors. The addition of exogenous recombinant VEGF165 did not alter proliferation but enhanced motility. A genetic analysis of OS-MM cells revealed the absence of BRAF and NRAS mutations; however, a GNAS mutation was identified. The OS-MM cell line should contribute to advances in personalized therapy for malignant oral mucosal melanoma.
Repeated Abscopal Effect After Two Courses of Stereotactic Body Radiotherapy for Multiple Postoperative Metastases of Malignant Melanoma of the Buccal Mucosa.
We report a case of repeated abscopal effect (AE) following two courses of stereotactic body radiotherapy (SBRT) for multiple postoperative metastases of malignant melanoma in the buccal mucosa during treatment with nivolumab. A 90-year-old female presented with malignant melanoma of the right buccal mucosa. She underwent partial resection of the right buccal mucosa and right cervical dissection at our hospital in January 2022. In August 2022, positron emission tomography (PET)-CT revealed recurrence in the left cervical lymph node and metastatic lung tumors at S5 of the left lung and S9 of the right lung. SBRT (40 Gy in five fractions) was performed for the recurrent left cervical lymph node. In December 2022, PET-CT showed regression of the irradiated lymph nodes as well as an unirradiated left lung S5 lesion, which was considered the first AE. In addition to the existing S9 lesion in the right lung, a new metastatic lung tumor was identified in S4 of the right lung, and SBRT of 42 Gy in four fractions was performed on the right S9 lesion in April 2023. In July 2023, PET-CT showed regression of both the irradiated right S9 lesion and the unirradiated right S4 lesion, representing the second AE. Both the irradiated and unirradiated lesions associated with AE remained reduced on PET-CT in October 2023. Repeated AEs after two SBRT courses during nivolumab therapy are extremely rare. We report this case together with a literature review.
Gastric metastasis of malignant melanoma with osteosarcomatous differentiation: a rare and unusual presentation.
Gastric metastasis of melanoma is a rare event associated with poor prognosis and short survival. Patients usually present with gastrointestinal symptoms, and in the absence of a prior history of primary tumor elsewhere, this can pose a diagnostic challenge. Melanoma has an inherent property to show transdifferentiation, which is retained even at the site of metastasis. Osteosarcomatous differentiation in melanoma is extremely uncommon, restricted to isolated case reports in the literature. A 79-year-old male patient, a known case of gastric mucosa-associated lymphoid tissue lymphoma, presented with generalized weakness and dysphagia of 15 days duration. Clinical impression was of lymphoma progression. Upper gastrointestinal endoscopy showed a 4 × 5 cm proliferative growth in the gastric fundus. Biopsy of the lesion was suggestive of melanoma with osteosarcomatous differentiation. It was regarded as metastasis as patient had a history of acral lentiginous melanoma 2 years ago. Patient was, however, willing only for palliative treatment. Patient succumbed to septic shock within 2 months of diagnosis. Herein, we report a case of gastric metastasis of melanoma with osteosarcomatous differentiation and discuss the clinical presentation, radiologic findings, challenges in histopathological diagnosis, and treatment options for this unusual entity.
Tracheal melanoma in a cat.
Extraocular melanocytic neoplasms are rare in cats and occur mainly in the skin and oral cavity. Tracheal neoplasms are also rare in cats, with lymphoma being the most commonly reported tumor. Here, we describe a tracheal melanoma in an 8-y-old spayed female domestic shorthair cat that died after 8 d of cyanosis, dyspnea, and wheezing. Radiographic and tracheoscopy findings were consistent with a mid-tracheal obstruction. Gross findings consisted of a poorly demarcated, pale-yellow, 28 × 16 × 15-mm mass that effaced and expanded most of the mid trachea and partially occluded the tracheal lumen. Histologically, the mass was a poorly demarcated neoplasm that effaced the tracheal mucosa, submucosa, hyaline cartilage, and muscle layer and was partially surrounded by the tracheal adventitia. The tumor infiltrated and disrupted the tracheal cartilage and partially occluded the tracheal lumen. Neoplastic cells were elongate or polygonal and arranged in interweaving bundles or well-defined groups supported by a delicate stroma. Nuclei were round-to-oval and often irregular, with finely stippled chromatin with a prominent nucleolus. Rare neoplastic cells had brown cytoplasmic pigment that was black on Fontana-Masson stain. The mitotic count was 11 in 2.37 mm2 (10 FN22/40× fields). Neoplastic cells had cytoplasmic immunolabeling for melan-A and PNL2, consistent with a diagnosis of melanoma.
Effectiveness and Mechanism of Cryoablation in the Treatment of Oral Mucosal Melanoma.
To assess the effectiveness and safety of cryoablation for oral mucosal melanoma (OMM) and explore its underlying mechanisms to provide insights for precision treatment of OMM. Patients diagnosed with OMM were divided into a cryoablation group and a noncryoablation therapy group. We compared the therapeutic outcomes of these groups and investigated the effects of cryoablation on glycometabolism, the immune microenvironment, and cell death modalities in the OMM. The study included 32 OMM patients, with 18 in the cryoablation group and 14 in the noncryoablation therapy group. Cryoablation demonstrated high safety and effectiveness, with a postoperative survival rate of 72.22% (13/18). The median overall survival was 85.5 months (95% CI: 57.3-113.6) in the cryoablation group and 72.4 months (95% CI: 51.36-93.4) in the non-cryoablation group. Significant changes in the immune microenvironment, including increased infiltration of CD4+, CD8+, and CD66+ cells and elevated expression of PD-1, PD-L1+, and CTLA4+ immune checkpoints, were observed postcryoablation. Conversely, FOXP3+ and CD19+ cell densities significantly decreased. Additionally, the expression levels of GLUT-1, HIF-1α, and PK-M2 were notably reduced. The primary antitumor effect of cryoablation is attributed to apoptosis. Cryoablation is an effective treatment for OMM, and its antitumor effects are potentially linked to the modulation of the immune microenvironment, alteration of glucose metabolism, and induction of apoptosis.
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Repeated Abscopal Effect After Two Courses of Stereotactic Body Radiotherapy for Multiple Postoperative Metastases of Malignant Melanoma of the Buccal Mucosa.
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Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, IncEstablishment and characterization of a cell line (OS-MM) originating from a human malignant melanoma of the oral mucosa.
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Veterinary sciencesGut microbial diversity and compositional shifts are associated with differential tumor growth rates in mice.
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Cancer scienceMucosal melanoma of hard palate.
Autopsy & case reportsGenetic Characteristics of Cutaneous, Acral, and Mucosal Melanoma in Japan.
Cancer medicineEsophageal melanosis: Two case reports and review of literature.
World journal of gastroenterologyThe Presence of Pigment Incontinence in Sinonasal Mucosal Melanoma.
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International journal of surgery case reportsDiversity of the immune microenvironment and response to checkpoint inhibitor immunotherapy in mucosal melanoma.
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International journal of particle therapySinonasal Mucosal Melanoma: A Contemporary Review.
Surgical pathology clinicsReconstructive techniques for lower eyelid and canthal defects after tumor resection.
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Frontiers in oncologyExtracellular vesicles from cancer cell lines of different origins drive the phenotype of normal oral fibroblasts in a CAF-like direction.
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The Journal of dermatologyGenomic landscape of cutaneous, acral, mucosal, and uveal melanoma in Japan: analysis of clinical comprehensive genomic profiling data.
International journal of clinical oncologyMulti-regional genomic and transcriptomic characterization of a melanoma-associated oral cavity cancer provide evidence for CASP8 alteration-mediated field cancerization.
Human genomicsAdvances in immunotherapy for mucosal melanoma: harnessing immune checkpoint inhibitors for improved treatment outcomes.
Frontiers in immunologyFull-body skin examination in screening for cutaneous malignancy: A focus on concealed sites and the practices of international dermatologists.
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Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and OncologyDiagnosis and Treatment of an Unusual Maxillary Gingiva Malignant Melanoma Arising Around Dental Implant.
The Journal of craniofacial surgeryA Rare Case of Primary Vulval Amelanotic Melanoma Involving the Urethra.
Prague medical reportPredominance of hyperprogression in mucosal melanoma during anti-PD-1 monotherapy treatment.
The oncologistCase Series of Acral and Mucosal Melanoma in a Diverse Patient Population.
Journal of drugs in dermatology : JDDEndoscopic resection of primary sinonasal mucosal melanoma with orbital invasion: How I do it.
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Oncology lettersSurvival of patients with mucosal melanoma in Cali, Colombia: a retrospective cohort study.
BMC cancerPrimary mucosal malignant melanoma (PMMM) of nasal cavity: A report of two cases.
Journal of cancer research and therapeuticsExpression of immune checkpoint molecules TIGIT and TIM-3 by tumor-infiltrating lymphocytes predicts poor outcome in sinonasal mucosal melanoma.
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International journal of cancerDifferential Diagnosis of Pigmented Lesions in the Oral Mucosa: A Clinical Based Overview and Narrative Review.
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World journal of clinical casesEstablishment of Canine Oral Mucosal Melanoma Cell Lines and Their Xenogeneic Animal Models.
CellsBCN20000: Dermoscopic Lesions in the Wild.
Scientific dataOutcomes of Immunotherapy in Sinonasal Mucosal Melanoma Patients With Recurrent and Metastatic Disease.
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Autopsy & case reportsLocal intralesional talimogene laherparepvec therapy with complete local response in oral palatine mucosal melanoma: a case report.
Journal of medical case reportsCytomegalovirus gastritis as a rare adverse event during combined ipilimumab and nivolumab in a patient with melanoma.
Melanoma researchSinonasal mucosal melanoma in The Netherlands between 2001 and 2021: a clinical and epidemiological overview of 320 cases.
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Cancer research communicationsImmunotherapy in the Management of Sinonasal Mucosal Melanoma: A Systematic Review.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryElectrochemotherapy as adjuvant treatment in a sinonasal mucosal melanoma in elderly patient: a case report.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryMetastasis to hypopharynx from epidermotropic metastatic malignant melanoma.
Drug discoveries & therapeuticsMutational landscape of oral mucosal melanoma based on comprehensive cancer genomic profiling tests in a Japanese cohort.
Oral oncologyA nuanced exploration delving into malignant melanomas occurring in unexpected and less common anatomical locations.
Journal of family medicine and primary careThe immunomodulatory impact of naturally derived neem leaf glycoprotein on the initiation progression model of 4NQO induced murine oral carcinogenesis: a preclinical study.
Frontiers in immunologySuperficial esophageal squamous cell carcinoma with melanocytosis that was endoscopically difficult to differentiate from malignant melanoma.
DEN openEfficacy and Safety of Postoperative Adjuvant Radiation Therapy in Resected Nasal Cavity and Paranasal Sinus Mucosal Melanoma: A Combined Analysis.
International journal of radiation oncology, biology, physicsPrimary Nasopharyngeal Melanoma without invasive and Metastasis: A Rare Case Reports and Literature Reviews.
Ear, nose, & throat journalConcurrent Occurrence of Trichilemmal Cyst and Nevus of Ota: Case Series.
CureusSmall bowel melanoma causing obstruction: A case report and a literature review.
International journal of surgery case reportsSargramostim for Prophylactic Management of Gastrointestinal Immune-Related Adverse Events of Immune Checkpoint Inhibitor Therapy for Cancer.
CancersA Curious Case of Primary Gastric Mucosal Melanoma.
The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chiSingle institution study of the immune landscape for canine oral melanoma based on transcriptome analysis of the primary tumor.
Frontiers in veterinary scienceNovel cellular systems unveil mucosal melanoma initiating cells and a role for PI3K/Akt/mTOR pathway in mucosal melanoma fitness.
Journal of translational medicineA Case Report of Primary Malignant Melanoma of the Gallbladder with Multiple Metastases.
Case reports in pathologyPrimary oral and sinonasal mucosal melanomas in Latin America: a systematic review.
International journal of oral and maxillofacial surgeryFull-body skin examination in screening for cutaneous malignancy: a focus on concealed sites and the practices of Australian dermatologists.
International journal of dermatologyMolecular investigation of some DNA viruses in mucosal melanoma: Case-control study.
Journal of medical virologyComparative Analysis of Alpha and Beta HPV E6 Oncoproteins: Insights into Functional Distinctions and Divergent Mechanisms of Pathogenesis.
VirusesPrimary anorectal amelanotic melanoma with liver, lungs and lymph nodal metastases.
BMJ case reportsMucosal Malignant Melanoma of Head and Neck: A Case Series from a Single Institute and Review of Literature Abstract.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaOral mucosa involvement in pediatric patients with xeroderma pigmentosum: a comprehensive review.
International journal of dermatologyTransmucosal Delivery of Nasal Nanovaccines Enhancing Mucosal and Systemic Immunity.
Nano lettersAdvanced Sinonasal Malignant Melanoma; A Case Report.
Iranian journal of pathologyReport on a case of liver-originating malignant melanoma of unknown primary.
Open life sciencesBone marrow metastases: a systematic review of a neglected involvement in malignant melanoma.
Melanoma researchManagement of metastatic bone disease of melanoma.
Melanoma researchOrgan preservation in anorectal melanoma: A tempting challenge-a case report.
SAGE open medical case reportsA primary oral mucosal melanoma of the hard palate with no recurrence: Report of a 10 years follow-up.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryProceedings from the Melanoma Research Foundation Mucosal Melanoma Meeting (December 16, 2022, New York, USA).
Pigment cell & melanoma researchColon Adenoma After Diagnosis of Immune Checkpoint Inhibitor-mediated Colitis.
Journal of CancerMucosal Melanoma: Epidemiology, Clinical Features, and Treatment.
Current oncology reportsPrimary malignant melanoma of the vagina: A case report.
Gynecologic oncology reportsCombinations of EGFR and MET inhibitors reduce proliferation and invasiveness of mucosal melanoma cells.
Journal of cellular and molecular medicineEsophagitis as a complication of the combination of lenvatinib and pembrolizumab for advanced endometrial cancer: A case report.
Gynecologic oncology reportsDefinitive treatment for head and neck mucosal melanoma.
Japanese journal of clinical oncologyOrbital Metastasis From Anorectal Mucosal Melanoma.
Ophthalmic plastic and reconstructive surgery[Research advances in preclinical models of oral mucosal melanoma].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyAutoimmune bullous dermatoses in cancer patients treated by immunotherapy: a literature review and Italian multicentric experience.
Frontiers in medicineCutaneous Malignant Melanoma Metastatic to the Larynx and Trachea: A Case Report and Review of the Literature.
Life (Basel, Switzerland)A Rare Case of Thyroid Cartilage Metastases Detected on 18F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography.
Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, IndiaKissing atypical melanocytic nevus of genital type of the labia majora in a young Bulgarian patient. What's the best approach?
Dermatology reportsOral malignant melanoma of the lower jaw-a case report with immunohistochemical investigations.
EcancermedicalscienceRETRACTED: Expression of microRNAs and their target genes in melanomas originating from gynecologic sites.
PloS onePembrolizumab-Induced Lichen Planus: A Rare Immune-Related Adverse Side Effect.
Indian dermatology online journalRecurrence patterns among patients with sinonasal mucosal melanoma: A multi-institutional study.
International forum of allergy & rhinologyInteraction between Age and Primary Site on Survival Outcomes in Primary GI Melanoma over the Past Decade.
Medical sciences (Basel, Switzerland)Early Stage Melanoma of the Vermillion with Mucosal Melanoma in Situ: A Clinical Conundrum.
Head and neck pathologyOral mucosal melanoma in situ: a case report and review of the literature.
International journal of oral and maxillofacial surgeryIntramucosal Melanocytic Nevi - A Rare Cause for Gingival Enlargement. Report of a Case and Review of Literature.
Clinical, cosmetic and investigational dentistryReplication of Porcine Astrovirus Type 1-Infected PK-15 Cells In Vitro Affected by RIG-I and MDA5 Signaling Pathways.
Microbiology spectrumCase report: Malignant melanoma of the lower limb with gastric metastasis.
Frontiers in oncologyA Case Report of Oral Malignant Melanoma: A Silent Killer.
CureusPReferentially Expressed Antigen in MElanoma (PRAME): preliminary communication on a translational tool able to early detect Oral Malignant Melanoma (OMM).
Journal of Cancer[Clinicopathological features and prognosis of anorectal melanoma: A report of 68 cases].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesPigmented Lesions of the Oral Cavity.
Oral and maxillofacial surgery clinics of North AmericaUrinary Bladder "Melanosis": A Case Report and Review of the Literature.
International journal of surgical pathologyTRPS1 expression is sensitive and specific for primary extramammary Paget disease.
HistopathologyThe cytosolic DNA sensor AIM2 promotes Helicobacter-induced gastric pathology via the inflammasome.
Immunology and cell biologyEsophageal anthracosis occurred after treatment of esophageal tuberculosis secondary to mediastinal tuberculous lymphadenitis: a rare case report.
BMC infectious diseasesPrimary malignant melanoma of the esophagus: A case report.
World journal of clinical casesPlasma exosome-derived connexin43 as a promising biomarker for melanoma patients.
BMC cancerMelanoma of unknown primary origin with skeletal muscle metastasis: a case report.
Journal of medical case reportsDifferentiating Fordyce Spots from Their Common Simulators Using Ultraviolet-Induced Fluorescence Dermatoscopy-Retrospective Study.
Diagnostics (Basel, Switzerland)Associações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Melanoma maligno da mucosa.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Melanoma maligno da mucosa
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Establishment and characterization of a cell line (OS-MM) originating from a human malignant melanoma of the oral mucosa.
- Repeated Abscopal Effect After Two Courses of Stereotactic Body Radiotherapy for Multiple Postoperative Metastases of Malignant Melanoma of the Buccal Mucosa.
- Gastric metastasis of malignant melanoma with osteosarcomatous differentiation: a rare and unusual presentation.
- Tracheal melanoma in a cat.Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc· 2026· PMID 41772429mais citado
- Effectiveness and Mechanism of Cryoablation in the Treatment of Oral Mucosal Melanoma.
- Case Report: Two cases of primary malignant melanoma of the female genital tract and literature review.
- [Update on Diagnosis-Related Groups (DRG) coding 2026 for general and visceral surgery : From the Department for Health Economics Section of the German Society for General and Visceral Surgery (DGAV)].
- Primary malignant melanoma of the uterine cervix: a case report of aggressive progression despite multimodal therapy.
- Comparative study of approached cancer incidence in a cohort of permanent nuclear workers with that in a sample of French population, period 2009-2018.
- Malignant Melanoma as a Rare Cause of Penile Cancer: A Case Report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:168999(Orphanet)
- MONDO:0015694(MONDO)
- GARD:20110(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q6931266(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
