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Familial Melanoma of the Lip

Malignant Melanoma of Skin of Lip


Presentation

  • present -mild 1 (1.6%) 2 (1.6%) -severe 20 (32.3%) 39 (30.7%) 41 (66.1%) 86 (67.7%) Nests 0.517 -present 47 (77%) 103 (81.1%) -not present 14 (23%) 24 (18.9%) Lentiginoushyperplasia 0.722 -present -not present 31 (50%) 60 (47.2%) 31 (50%) 67 (52.8%) Cellular[omicsonline.org]
  • The disease most often presents in children and teenagers but can occur at any age. The presenting feature is usually a high total body nevi count (usually more than 50).[orpha.net]
  • Figure 1 Clinical presentations of MBAITs.[translational-medicine.biomedcentral.com]
  • Thyroid function tests such as TSH are usually normal, even when MTC is present.[thyroid.org]
  • The clinical presentation of the case is discussed with review of literature.[e-ijd.org]
Amyloidosis
  • Small Lymphocytic Lymphoma Cutaneous Melanoma (See Melanoma ) Esophageal and Esophagogastric Junction Cancers Gestational Trophoblastic Neoplasia Malignant Pleural Mesothelioma Melanoma Multiple Myeloma/Other Plasma Cell Neoplasms Systemic Light Chain Amyloidosis[nccn.org]
  • Rothberg AE, Raymond VM, Gruber SB, Sisson J. 2009 Familial medullary thyroid carcinoma associated with cutaneous lichen amyloidosis. Thyroid 19 :651–655 [ PubMed ] [ Google Scholar ] 50.[ncbi.nlm.nih.gov]
Blurred Vision
  • Signs of uveal melanoma can include blurred vision, flashes, floaters, headache or a dark spot on the eye.[cancer.osu.edu]
  • Approximately 30% of the patients have no symptoms at time of diagnosis, and if there are any complaints these consist mostly of blurred vision, floaters, photopsias and visual field loss ( Damato, 2010 ) ( figure 1 ).[intechopen.com]

Workup

  • […] each participant, information on their skin examination, sun exposure history, medical photographs (both overview and close-up) and blood draw for localizing genetic loci, identifying genes and evaluating phenotype/genotype correlations, constitute the workup[clinicaltrials.gov]
  • If one of the high-risk indicators, mentioned previously is found, there is reasonable evidence for potential growth and many authorities recommend advancing the workup and obtaining a biopsy.[eyewiki.aao.org]
  • (See Etiology and Workup.)[emedicine.medscape.com]
  • […] and/or pancreatic cancer among first- or second-degree relatives on the same side of the family Case reports suggest a possible association between uveal melanoma and patients with FAMMM syndrome. [43] Baseline eye examination may be indicated in the workup[emedicine.medscape.com]

Treatment

  • Melanoma Research Foundation To support medical RESEARCH for finding effective treatments and eventually a cure for melanoma. To EDUCATE patients and physicians about the prevention, diagnosis and treatment of melanoma.[mysupport360.com]
  • These patients require rapid evaluation and treatment.[tidsskriftet.no]
  • General treatment The primary goal of treatment for uveal melanomas is to prevent metastasis.[eyewiki.aao.org]

Prognosis

  • Prognosis In those with pancreatic cancer, the prognosis is poor. Early diagnosis and treatment of melanoma tends to lead to a better prognosis. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Iris melanoma: features and prognosis in 317 children and adults. J AAPOS. 2012 Feb;16(1):10-6. 4.0 4.1 Kujala E, Makitie T, Kivela T (2003) Very Long-Term Prognosis of Patients with Malignant Uveal Melanoma.[eyewiki.aao.org]
  • WHAT IS THE PROGNOSIS OF MEDULLARY THYROID CANCER? The prognosis of MTC is usually not as favorable as differentiated thyroid cancers ( papillary and follicular cancer ). However, if discovered early, surgery can be curative.[thyroid.org]
  • Conversely, the prognosis for patients with early disease is excellent, and this stage is often curable with simple surgical excision.[aafp.org]

Etiology

  • ,” “etiology,” “cohort studies,” and “case-control studies.”[cebp.aacrjournals.org]
  • Etiology FAMMM syndrome has been associated with mutations in the 16p locus of CDKN2A (9p21), a tumor suppressor gene involved in cell cycle inhibition. However, approximately 60% of patients with FAMMM syndrome do not have a CDKN2A mutation.[orpha.net]
  • Investigations of individuals and families at high risk of melanoma have led to etiologic clues that are important in the general population.[clinicaltrials.gov]
  • (See Etiology and Workup.)[emedicine.medscape.com]
  • […] age-adjusted incidence of this rare malignancy has been reported as 5.1 per million and has remained stable since at least the early 1970’s. [1] These tumors most commonly arise unilaterally in Caucasians during the fifth to sixth decade of life. [1] Etiology[eyewiki.aao.org]

Epidemiology

  • Karen A Pooley Molecular Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Herston, Brisbane, Queensland, Australia.[nature.com]
  • Most genetic epidemiology investigations evaluate the contributions of host susceptibility and environmental exposure in the development of cancer. In family studies, the host susceptibility measure is frequently an alteration in specific gene(s).[dceg.cancer.gov]
  • A 2012 comprehensive review of primary mucosal melanomas in the International Journal of Clinical and Experimental Pathology provides a helpful overview of mucosal melanoma epidemiology and diagnosis.[melanoma.org]
  • Sivaramakrishna Rachakonda 1, Christine Fischer 3, Antje Sucker 2, Andreas Gast 1, 2, Stephanie Kadel 1, 2, Iris Moll 2, Eduardo Nagore 4, Kari Hemminki 1, 5, Dirk Schadendorf 2, *, †, Rajiv Kumar 1, *, † 1 Division of Molecular Genetic Epidemiology,[science.sciencemag.org]
  • Materials and Methods A systematic review and meta-analysis was done in accordance with the Meta-analysis of Observational Studies in Epidemiology guidelines for reviews of observational studies ( 6 ).[cebp.aacrjournals.org]
Sex distribution
Age distribution

Pathophysiology

  • […] occasionally children - all have same morphology Sites Head and neck, back, lower extremities (particularly in women) Also oral and anogenital mucosa, esophagus, meninges and eye Rarely subungual ("Hutchinson sign / melanotic whitlow"), palm or sole Pathophysiology[pathologyoutlines.com]
  • The pathophysiology of uveal melanoma is currently not well understood.[eyewiki.aao.org]
  • Pathophysiology Atypical nevi can be inherited or sporadic. Formal genetic analysis has suggested an autosomal dominant mode of inheritance, but genetic studies have not shown consistent data.[emedicine.medscape.com]
  • This heterogeneity also extends to the spectrum of cancer presentation, as some kindreds will show a melanoma predominance and others a pancreatic cancer predominance, while others may show an excess of an additional cancer whose pathophysiology in relation[ncbi.nlm.nih.gov]

Prevention

  • National Council on Skin Cancer Prevention The National Council on Skin Cancer Prevention is a united voice to reduce skin cancer incidence, morbidity, and mortality through awareness, prevention, early detection, research, and advocacy.[mysupport360.com]
  • […] and early detection of cervical cancer: American Cancer Society, American Society for Colposcopy and Cervical Pathology, and American Society for Clinical Pathology screening guidelines for the prevention and early detection of cervical cancer.[nccn.org]
  • Secondary Prevention and Screening Secondary prevention consists of routinely performing a total skin examination for a specific segment of the population.[aafp.org]
  • Seite 146 - Daily sunscreen application and betacarotene supplementation in prevention of basal-cell and squamous-cell carcinomas of the skin: a randomised controlled trial. Lancet, 1999. ‎[books.google.de]

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