1/17. Squamous cell carcinoma of the tongue in a patient with rothmund-thomson syndrome.rothmund-thomson syndrome is a rare autosomal recessive genodermatosis characterised by poikilodermatous skin changes that appear in childhood. patients exhibit variable additional features including juvenile cataracts, skeletal abnormalities and a higher than expected incidence of malignancies. We report a case of squamous cell carcinoma of the tongue in a 37-year-old rothmund-thomson syndrome patient and review the natural history of this rare disease, given that the patient was diagnosed with rothmund-thomson syndrome at the age of 8 years and was first reported in 1975.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/17. Pseudoscleroderma associated with lung cancer: correlation of collagen type i and connective tissue growth factor gene expression.Pseudoscleroderma as a paraneoplastic syndrome is a rare disease. We report here a patient with lung cancer (undifferentiated squamous cell carcinoma), who developed acrosclerosis. Using in situ hybridization, marked expression of alpha1(I)-collagen and connective tissue growth factor (CTGF) mRNA was found in fibroblasts scattered throughout the dermis. However, transforming growth factor (TGF)-beta1 expression was not detected. The pattern of CTGF gene expression and collagen synthesis was similar to that in systemic scleroderma. The absence of TGF-beta1 mRNA could indicate that tumour-derived factors induce the expression of CTGF.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/17. A case of primary squamous cell carcinoma of the breast with rapid progression.Primary squamous cell carcinoma of the breast is a rare disease for which no definite treatment or prognosis has been established. This report describes our experience with one case of primary squamous cell carcinoma of the breast that ended in death after rapid progression. The patient was a 58 year old woman who visited our hospital complaining of a growing tumor and pain in the right breast. Ultrasonographically the tumor consisted of solid tumor and a large cyst. Squamous cell carcinoma was diagnosed by fine-needle aspiration cytology. Neoadjuvant CEF was given, but the tumor continued to grow, so CEF was discontinued after one course and modified radical mastectomy was performed subsequently. There was no evidence of metastasis to lymph nodes. About 5 months post operatively CT of the head and chest X-ray demonstrated metastatic lesions in the brain and lungs. Resection of the cerebral tumor was performed. About 1 month after the operation, however, a new metastatic brain tumor was found and the patient later died.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/17. Normal cellular radiosensitivity in an adult Fanconi anaemia patient with marked clinical radiosensitivity.BACKGROUND: Fanconi anaemia is a rare disease associated with cellular sensitivity to chemicals (e.g. mitomycin C and diepoxybutane); variable but mild cellular radiosensitivity has also been reported. MATERIALS AND methods: A 32-year-old patient with Fanconi anaemia and tonsillar carcinoma, treated by radiotherapy, was found to exhibit profound clinical radiosensitivity. Confluent, ulcerating oropharyngeal mucositis developed after a conventionally fractionated dose of 34Gy and healing was incomplete by 2 months after cessation of therapy. RESULTS: Cellular radiosensitivity assays and RPLD studies from this patient did not suggest any major detectable radiosensitivity. CONCLUSION: There is a discrepancy between the observed clinical radiosensitivity and the usual "predictive" radiosensitivity assays in this patient with Fanconi anaemia.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/17. Primary squamous cell carcinoma of the endometrium. A report of 3 cases.Primary squamous cell carcinoma of the endometrium (PSCCE) is a rare disease of unknown etiology. diagnosis is based on the identification of squamous cell carcinoma in the endometrium with no coexisting analogous cervical component or endometrial adenocarcinoma. There must also be no connection between the endometrial tumour and the squamous epithelium of the cervix. Although the majority of patients are classified as stage I disease, prognosis is rather dismal. We report two new cases of primary squamous cell carcinoma of the endometrium which fulfill all the above criteria and we discuss another interesting case of squamous cell carcinoma of questionable endometrial origin. Management by abdominal hysterectomy and adjuvant pelvic irradiation resulted in long-term survival of our patients.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/17. Giant condyloma acuminatum of the anorectum: trends in epidemiology and management: report of a case and review of the literature.PURPOSE: Giant condyloma acuminatum (Buschke-Loewenstein tumor) of the anorectum is a rare disease with a potentially fatal course. Controversy exists as to the epidemiology, pathologic nature, and management of the tumor. methods: We present a 42-year-old male with a 12-cm x 10-cm exophytic mass of the anal verge. Treatment included wide local excision and partial closure with rotation flaps. pathology revealed a giant condyloma acuminatum with foci of well-differentiated squamous-cell carcinoma. We identified 51 reported cases of giant condyloma acuminatum in the English literature, and to our knowledge this is the largest review to date. RESULTS: Giant condyloma acuminatum presents with a 2.7:1 male-to-female ratio. For patients younger than 50 years of age, this ratio is increased to 3.5:1. The mean age at presentation is 43.9 years, 42.9 in males and 46.6 in females (P = 0.44). There seems to be a recent trend toward a younger presentation. The most common presenting symptoms are perianal mass (47 percent), pain (32 percent), abscess or fistula (32 percent), and bleeding (18 percent). Giant condyloma acuminatum has been linked to human papilloma virus and has distinct histologic features. Foci of invasive carcinoma are noted in 50 percent of the reports, "carcinoma in situ" in 8 percent, and no invasion in 42 percent. Historically, treatment strategies have included topical chemotherapy, wide local excision, abdominopelvic resection, and the frequent addition of adjuvant and neoadjuvant systemic chemotherapy and radiation therapy. recurrence is common. CONCLUSION: There seems to be a trend toward younger age at presentation and male predominance of giant condyloma acuminatum of the anorectum. Foci of invasive cancer within giant condyloma specimens are of uncertain significance and do not seem to correlate with recurrence or prognosis. Local invasion and local recurrence are the major source of morbidity in this disease. Complete excision is the preferred initial therapy when feasible. Wide local excision, fecal diversion, or abdominoperineal resection have been used. Chemotherapy with 5-fluorouracil and focused radiation therapy may be used in certain cases of recurrence or extensive pelvic disease, with unpredictable response. Controlled, prospective, multi-institutional studies are necessary to further define the nature and treatment of this rare disease.- - - - - - - - - - ranking = 2keywords = rare disease (Clic here for more details about this article) |
7/17. Carcinoma of the neovagina: case report and review of the literature.BACKGROUND: Carcinoma of the vagina is a rare disease, and it is even more rare in the neovagina. Nevertheless, it has been well described. The aim of this report was to analyze the reported cases and to add observations concerning a risk profile for this rare occurrence of carcinoma. CASE REPORT: The 29-year-old patient's history included congenital absence of vagina as a result of Rokitansky-Kuster syndrome. In 1987, when the patient was 17 years old, a neovagina was constructed by dissection between the bladder and the rectum, according to the Warthon method, and the apex of the neovagina was covered with Dura-mater. In 1990 the patient underwent radiation treatment with brachytherapy three times in combination with surgical treatment, because of granulation tissue in the neovagina. In 1999 several specimens of the granulation tissue were removed and histological examination showed intermediate differentiated squamous cell carcinoma. Total exenteration with pelvic and lower paraaortic lymph node dissection was performed, and the patient received a continent neobladder (Mainz Pouch I), colostoma, and sigma neovagina. Two months later in January 2000 the patient showed local recurrence and after local excision the patient received radiotherapy. The follow-up to June 2001 showed no evidence of disease. CONCLUSION: All patients with vaginoplasty should undergo regular 1-year follow-ups, including smear analysis because of the possibility of the development of carcinoma. granulation tissue arising in a neovagina should be biopsied and no prosthesis should be used until lesions have healed completely. patients who have undergone radiation of the neovagina carry an additional risk.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/17. Testicular metastasis from squamous cell carcinoma of the lung.We present a case of squamous cell carcinoma of the testis that metastasized from lung cancer. The patient, who had received left pneumonectomy 2 years earlier for squamous cell carcinoma (SCC) of the lung, developed pulmonary metastasis, which was treated with chemotherapy. Although the recurrence regressed after treatment, the testicular tumor progressed gradually. Left radical orchiectomy was performed. Pathological examination revealed metastatic SCC. Testicular metastasis from lung cancer is a very rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/17. A case of bullous pemphigoid arising in juvenile hyaline fibromatosis with oral squamous cell carcinoma.We experienced a case of bullous pemphigoid (BP) arising in juvenile hyaline fibromatosis (JHF) associated with oral squamous cell carcinoma (SCC). JHF is a very rare disease inherited in an autosomal recessive fashion. skin-colored, elastic hard nodules up to 10 cm in size were scattered mainly on the trunk and scalp. gingival hypertrophy and an ill-defined mass with an irregular surface on the hard palate were noticed. A skin biopsy and a gingival biopsy confirmed the diagnosis of JFH and oral SCC, respectively. The patient was receiving anti-cancer drugs for the treatment of oral SCC and the treatment was successful. In the meantime, bean to nail sized bullas were noticed on the hands and feet. Histological examination, immunofluorescence method and ELISA confirmed the diagnosis of BP. The pathophysiological mechanisms are discussed in the present case.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/17. Lymphoepithelioma-like carcinoma of the lung: case in which the patient has been followed up for 7 years postoperatively.Primary lymphoepithelioma-like carcinoma (LELC) of the lung is a very rare disease. There is very little long term follow-up data about this disease. A 60-year-old woman was found to have abnormalities according to a routine chest X-ray examination. She was admitted to our hospital in March 1998. Since a malignant tumor of the right lung was suspected, surgical resection was performed in April of the same year. Pathological diagnosis was LELC of the lung. Its pathological stage was T1N0M0 stage IA. It has been reported that this carcinoma is associated with Epstein-Barr virus (EBV) infection. However, the patient's tumor cells were negative for EBV as examined with rna in situ hybridization technique. She is alive and has been free from recurrence of the disease over 7 years postoperatively.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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