1/10. Pedunculated malignant melanoma.A woman had a primary pedunculated malignant melanoma. This is a rare form of presentation and may result in clinical confusion with seborrheic keratosis, fibroepithelial papilloma, or granuloma pyogenicum. The aggressive nature of the lesion was indicated by the presence of erosion and bleeding. Though the tumor cells were present only in the pedunculated mass, it had metastasized to regional lymph nodes at the time of surgery.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/10. Germline and somatic mutations of the INK4a-ARF gene in a xeroderma pigmentosum group C patient.xeroderma pigmentosum is an inheritable autosomal recessive dna repair deficient syndrome characterized by a high predisposition to skin cancers. An elevated proportion of tumors from xeroderma pigmentosum patients harbor ultraviolet-induced mutations (CC:GG > TT:AA tandem transitions) of the p53 and/or the INK4a-ARF genes. Here, we report the clinical and molecular features of a 12 y old xeroderma pigmentosum patient who, in addition to severe cutaneous clinical symptoms, also had three unusual tumors, a mediastinal lymphoblastic lymphoma, an atypical fibroxanthoma, and an epithelioid hemangioma. Single strand conformation polymorphism and sequencing analysis of the p53 and INK4a-ARF genes were carried out in DNA from normal skin and different tumors (four actinic keratosis, two microinvasive squamous cell carcinomas, one basal cell carcinoma, and one atypical fibroxanthoma) from the patient. After characterization of the xeroderma pigmentosum C complementation group, we found unexpectedly that this patient also carried a germline mutation of the INK4a-ARF locus affecting the p16INK4A reading frame. Three different somatic mutations that all harbor the signature of ultraviolet light (two of p16INK4A and one of p53) were also detected in the basal cell carcinoma. We hypothesize that the germline mutation of p16INK4A, in association with the nucleotide excision repair defect, could explain the patient's unusual phenotype. Furthermore, this study confirms that concomitant somatic mutations of INK4a-ARF and p53 occur in some xeroderma pigmentosum associated tumors, and seem to accumulate during tumor progression rather than the initiation step.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/10. Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia.Several ectodermal dysplasia syndromes, including Ectrodactyly-ectodermal dysplasia-Clefting (EEC) and Ankyloblepharon-ectodermal dysplasia-Clefting (AEC) syndromes, are known to result from mutations in the p63 gene. We investigated whether Rapp-Hodgkin syndrome (RHS) is also caused by mutations in the p63 gene. We identified a heterozygous de novo germline missense mutation, S545P, in the sterile-alpha-motif (SAM) domain of p63, in a Thai patient affected with RHS. This is the first genetic abnormality to be described in RHS. The amino acid substitution is the most downstream missense mutation in p63 reported thus far. Histological assessment of a skin biopsy from the patient's palm showed hyperkeratosis and keratinocyte cell-cell detachment in the upper layers of the epidermis, along with numerous apoptotic keratinocytes. Collectively, these investigations demonstrate that RHS is also caused by mutations in p63 and that the clinical similarities to AEC syndrome are paralleled by the nature of the inherent mutation.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/10. Acrokeratosis verruciformis of Hopf (Hopf disease): case report and review of the literature.Acrokeratosis verruciformis of Hopf is an autosomal dominant genodermatosis usually presenting with multiple planar wart-like lesions, typically observed on the dorsum of the hands and feet. The disease is very rare and the pathogenesis remains unknown. Considerable controversy surrounds the nature and relationship of acrokeratosis and darier disease and whether they are manifestations of one genetic abnormality. We describe the case of a 19-year-old man seen in our clinic with skin-coloured, flat, warty papules localized to the dorsum of the hands and feet. Both clinical and histological findings were compatible with acrokeratosis verruciformis. We also review the disease, particularly its relation with Darier disease and therapeutical options.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/10. Trichilemmal tumor arising in a seborrheic keratosis: analysis of cell kinetics by BrdU staining.We report a case of a 74-year-old male with a trichilemmal tumor arising in a seborrheic keratosis on the buttock and the results of a cell kinetic study of this tumor using a BrdU staining method. The incidence of trichilemmal tumor arising in a seborrheic keratosis seems to be extremely rare. The labeling index of this tumor was 12.0%; this was a level intermediate between normal epidermis and a variety of hyperproliferative skin diseases such as squamous cell carcinoma, bowen's disease, and psoriasis vulgaris. DNA replicating cells were present in the germinative layers in normal epidermis and the benign hyperproliferative skin diseases, psoriasis vulgaris. In contrast, DNA replicating cells were found throughout the entire epidermis in premalignant and malignant tumors such as in bowen's disease and squamous cell carcinoma. In this case, DNA replicating cells were localized mainly in the basal and parabasal cell layers, but also seen in the upper squamous layers. These findings suggest that this trichilemmal tumor had a malignant tendency, though it was slow-growing and relatively benign in nature.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/10. Sweet's syndrome with acute leukemia.Sweet's syndrome presenting with malignancy or acute neutrophilic dermatosis is an unusual cutaneous disorder associated most commonly with acute myelogenous leukemia. Although other cancers may be linked to acute neutrophilic dermatosis, a large majority of patients have associated neoplasms of hematopoietic, plasma cell, or lymphoid nature. We report a patient with aplastic anemia who showed acute neutrophilic dermatosis and, ultimately, acute leukemia. The individual lesions responded to carbon dioxide laser surgery.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
7/10. Oral dysplasia and in situ carcinoma: clinicopathologic correlations of eight patients.Eight patients with multiple oral dysplastic epithelial lesions were followed by clinical examinations and serial biopsies for periods varying from four to 22 years. The dysplasias and in situ carcinomas were characterized by persistence, recurrence, and eventual progression to invasive squamous cell carcinoma. It could not be determined whether dysplasia and in situ carcinoma were separate clinical-pathologic entities with similar end points or whether they were part of a continuum in a spectrum of epithelial neoplasia. The need for close clinical observation and local excision was emphasized because of the multiplicity of lesions and because of the protracted clinical course. Treatment of these patients was problematic because of similarities of the disease to lichen planus. It is possible that they had a premalignant disease process that mimicked lichen planus, or that they had an unusual form of lichen planus for which criteria have not been established. The progressive nature of the disease was exemplified by one death, one patient with cervical metastasis, and one with generalized remote metastatic disease.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
8/10. lichen planus pigmentosus associated with acrokeratosis of Bazex.A patient with an acquired pigmentation related to lichen planus pigmentosus is described. Features of acrokeratosis of Bazex were associated, related to a head and neck carcinoma. Both cutaneous conditions disappeared after treatment of the neoplasia. Diagnostic criteria of lichen planus pigmentosus are reviewed. The paraneoplastic nature of this original observation of lichen planus pigmentosus is discussed.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
9/10. External ear canal cholesteatoma. Case report.External ear canal cholesteatoma is a rare condition in otologic practice. A case in a 43-year-old woman is presented in which despite the extensive nature of the lesion, minimal symptoms and absence of signs delayed diagnosis. The cause of the lesion and its treatment are discussed.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
10/10. Giant cutaneous horn: a patient report.A large cutaneous horn was excised from the left side of the nose and cheek of a 68-year-old woman. Reconstruction was performed with a split-thickness skin graft. Histologically the lesion represented squamous cell carcinoma. The nature of malignant degeneration in cutaneous horns is discussed.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
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