1/19. The ABC rule for clinical detection of subungual melanoma.BACKGROUND: Subungual melanoma is a relatively rare disease with reported incidence between 0.7% to 3.5% of all melanoma cases in the general population. Unlike the significant improvement in the diagnosis of cutaneous melanoma, the diagnosis of subungual melanoma has shown little, if any, improvement over the years. The widespread adoption of the ABCDs of cutaneous melanoma has helped increase public and physician awareness, and thus helped increase the early detection of cutaneous melanoma; the same criteria cannot be applied to the examination of the nail pigmentation. OBJECTIVE: We reviewed the world literature on subungual melanoma and arranged the available information into a system for the identification of subungual melanoma. This system has to be thorough, easy to remember, and easy to apply by both physician and lay public. A case to illustrate the delayed diagnosis often encountered in the current evaluation of nail melanoma is presented. methods: A thorough review of the world literature on subungual melanoma was undertaken. The important findings of various studies and case reports were compared among themselves and the salient features were summarized. The information was then categorized under the easily recalled letters of the alphabet, ABCD, that have already become associated with melanoma. RESULTS: The most salient features of subungual melanoma can be summarized according to the newly devised criteria that may be categorized under the first letters of the alphabet, namely ABCDEF of subungual melanoma. In this system A stands for a ge (peak incidence being in the 5th to 7th decades of life and african americans, Asians, and native Americans in whom subungual melanoma accounts for up to one third of all melanoma cases. B stands for brown to black b and with breadth of 3 mm or more and variegated borders. C stands for change in the nail band or lack of change in the nail morphology despite, presumably, adequate treatment. D stands for the digit most commonly involved; E stands for extension of the pigment onto the proximal and/or lateral nailfold (ie, Hutchinson's sign); and F stands for family or personal history of dysplastic nevus or melanoma. CONCLUSION: Although each letter of the alphabet of subungual melanoma is important, one must use all the letters together to improve early detection and thus survival of subungual melanoma. Still, as with cutaneous melanoma, the absolute diagnosis of subungual melanoma is made by means of a biopsy.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/19. Desmoplastic malignant melanoma of the palatal alveolar mucosa: sustained disease-free survival after surgery and postoperative radiotherapy.Aggressive surgical and radiotherapeutic management of a patient with desmoplastic malignant melanoma arising from the mucosa of the oral cavity has resulted in disease-free survival of more than 2(1/2) years after diagnosis. This case represents only the tenth reported instance of desmoplastic malignant melanoma arising from the oral cavity and only the third for which survival has exceeded 2 years. Details of the clinical, histopathologic, and therapeutic features of the case are provided to augment the paucity of literature available to clinicians managing this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/19. Malignant melanoma with liver and spleen metastases: case report.CONTEXT: The diagnosis of primary melanoma is easily confirmed after histological analysis of the lesion, whereas it is rarely diagnosed when the patient even has distant metastases. DESIGN: Case report CASE REPORT: Malignant melanoma is responsible for about 1% of all deaths caused by cancer in the USA and only 3% of all malignant skin diseases. Malignant melanoma is a rare disease, although it corresponds to 65% of all deaths caused by skin cancer. The liver and spleen are rarely the first sites of melanoma metastases. This paper reports on the clinical picture of a patient with fatal malignant melanoma and hepatic and spleen metastases. As this was an un-usual presentation, the melanoma diagnosis could only be made after pathological analysis of the skin and hepatic lesions.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/19. Primary malignant melanoma arising in the parotid gland: case report and literature review.melanoma of the head and neck is an extremely rare disease, characterized by difficult and late diagnosis and poor prognosis; moreover, the definition of primary melanomas of the salivary glands remains controversial. In this paper we describe an unusual case of primary melanoma arising in the parotid gland. A 60-year-old woman presented to us for the persistence of a parotid neoplasm diagnosed as carcinoma by fine-needle aspiration and treated with radiation therapy. Wide destructive surgery was performed and immunohistochemical analysis of the surgical specimen led to a diagnosis of melanoma. Complete screening excluded other primary tumor sites. After five years of follow-up the patient Is alive and free of disease. Here we report the diagnostic procedures leading to the diagnosis along with a critical analysis of the literature, emphasizing the difficulties in the diagnosis and classification of melanoma as a primary tumor in the parotid gland and the need for destructive surgery.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/19. Primary malignant melanoma of the esophagus.is a rare disease, with only 200 cases being reported since this condition became an established clinical entity in 1963. This tumor, which accounts for only 0.1-0.2% of all esophageal neoplasms, is typically aggressive and disseminates early via the bloodstream and lymphatics, with only some 30% of patients surviving > 1 year after diagnosis. Management of patients with esophageal melanomata is unsatisfactory, as most tumors are advanced at diagnosis, and therapeutic options are limited by inaccessibility and early dissemination of the neoplasms. Poor survival rates reflect the inoperability of many tumors and the ineffectiveness of radiation and chemotherapy in eradicating advanced tumors and metastases. We present two patients with primary melanoma of the esophagus and discuss the treatment options currently available.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/19. Rectal malignant melanoma diagnosed by N-isopropyl- p-123I-iodoamphetamine single photon emission computed tomography and 5-S-cysteinyl dopa: report of a case.Malignant melanoma in the anorectal region is a rare disease associated with a very poor prognosis. Taking a biopsy of malignant melanoma is generally contraindicated because of the high risk of inducing metastasis. Although clinical examination and imaging findings are important for the preoperative diagnosis, conventional imaging techniques sometimes fail to provide information from which an accurate diagnosis can be made. We recently treated an 84-year-old woman with rectal malignant melanoma, in whom magnetic resonance imaging showed atypical findings. On the other hand, N-isopropyl- p-(123)I-iodoamphetamine single photon emission computed tomography and 5- S-cysteinyl dopa in blood serum, as a tumor marker of malignant melanoma, proved very effective for establishing the preoperative diagnosis. Despite radical abdominoperineal resection, the patient died of multiple liver and lung metastases about 5 months after surgery.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/19. A clinical variant of familial Hermansky-Pudlak syndrome.Hermansky-Pudlak syndrome (HPS) is an autosomal recessive inherited disease consisting of (1) partial oculocutaneous albinism (with nystagmus, strabism, and visual acuity loss), (2) platelet storage pool deficiency (with bleeding diathesis), and (3) disorder of "ceroid" metabolism with a multisystem tissue lysosomal ceroid deposition. HPS is less uncommon in puerto rico, where the most important studies have been performed, but is a very rare disease in europe. HPS basic defect remains unknown, even if an HPS-causing gene was identified in chromosome segment 10q23-q23.3, and several mutations have been reported. The aim of this article is to discuss, on the basis of a review of relevant literature, a new familial HPS clinical variant observed in 2 young sisters (aged 16 and 23 years old, respectively), characterized by the typical symptoms of this syndrome. Our patients also suffered from diffuse interstitial pulmonary disease and an unexpectedly increased platelet aggregation and were prone to bacterial infections. Interestingly, we observed urinary tract abnormality in the younger HPS sister and a porencephalic cyst in the older HPS sister; both of these developmental defects have been reported in the Cross syndrome (or oculocerebral hypopigmentation syndrome). It seems that in our patients, an overlapping of the phenotypic manifestations of different rare syndromes may be present. The presence of ceroid-like autofluorescent material in urinary sediment together with the histologic aspects and the autofluorescence of oral mucosa biopsy are consistent with a ceroid-like lipofuscin storage. HPS should be carefully tested for in suspected cases to prevent the severe visual impairment, rapidly progressive pulmonary fibrosis, and other complications associated with this disorder.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/19. Malignant melanoma associated with lichen sclerosus in the vulva of a 10-year-old.Malignant melanoma of the vulva in childhood is a rare neoplasm. Lichen sclerosus of the vulva in childhood is also a rare disease. The association of these two rare lesions in the vulva of young girls is extremely rare. We present a 10-year-old white girl with malignant melanoma associated with lichen sclerosus of the vulva. She had dark pigmentation of both the labia minora and posterior fourchette. The inner labia majora and fourchette showed whitish, glistening areas of skin. Histologic examination found mostly an in situ lentiginous/mucosal melanoma with focal invasion to a depth of 0.44 mm in the left upper labium majus. All specimens showed evidence of lichen sclerosus. Partial vulvectomy was performed, and no metastases were detected at the time of treatment. The patient has been disease free for the 12 months after treatment. It is critical for physicians to realize that melanoma can occur in children, and although rare, can occur in the vulva. We feel that lichen sclerosus in this instance may represent a pattern of host immune response to melanoma.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/19. Primary pulmonary malignant melanoma presenting with haemoptysis.Primary pulmonary melanoma is a rare disease, and only 20 cases have been published previously in the English literature. A 44-year-old woman presented initially with haemoptysis, and a chest roentgenogram showed a single lung mass. The diagnosis of primary pulmonary melanoma necessitates reliance on both clinical and histological criteria. The image of endobronchial ultrasonography (EBUS) in our case was not distinct from the image of lung cancer.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/19. Perianal melanoma disguised as hemorrhoids: case report and discussion.Perianal melanoma is a very rare disease that carries a grave prognosis. The difficulty in making the diagnosis and the rarity of the disease results in failure of recognition until the disease is widespread. Ultimately, the burden is on the physician to uncover this ominous cancer. Not doing so is one of the most significant correlates to poor outcome.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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