1/247. Diagnostic relevance of chromosomal in-situ hybridization in Merkel cell carcinoma: targeted interphase cytogenetic tumour analyses.AIMS: To resolve the conflicting diagnoses of five pathologists (which included well-differentiated neuroendocrine carcinoma, malignant carcinoid, undifferentiated small-cell carcinoma, primitive neuroectodermal tumour, metastases of small-cell lung carcinoma (SCLC) and Merkel cell carcinoma (MCC)), and tumour-free lungs after necropsy, we investigated an alarmingly metastasizing MCC in a 32-year-old Caucasian man using chromosomal in-situ hybridization (CISH). Differences in incidence and course in males and females also prompted targeted analyses for chromosomes X and Y. The lesion was also analysed for p53 gene mutations. methods AND RESULTS: paraffin sections of the thorax, buccal lymph nodes and scalp tumours were stained with haematoxylin and eosin. immunohistochemistry was performed with antibodies against pancytokeratin, keratin 20, neuron-specific enolase (NSE), chromogranin, neurofilaments and vimentin, among others. Sections (5-6 microm) of the tumours were analysed with alpha-satellite probes for chromosomes 1, 6, 7, 11, 12, 17, 18, X and Y using CrSH; and exons 5-9 of the p53 gene were examined by polymerase chain reaction and single strand conformation polymorphism (PCR-SSCP) methods. Although positive for pancytokeratin, keratin 20, chromogranin, NSE, synaptophysin and vimentin, the similarity in antigen profiles expressed by SCLC and MCC prevented a definitive tumour diagnosis. Chromosomal in-situ hybridization, however, revealed trisomies 1 and 11, two frequent aberrations in MCC, and trisomy 18. Moreover, 71% of the tumour cells had two to three copies of X, whereas 98% of the cell nuclei in the hair follicles and normal epidermis (purported Merkel cell origins) displayed one x chromosome. No mutations were detected in the five exons of the p53 gene examined. CONCLUSIONS: Had CISH been performed earlier, treatment may have been tailored specifically to suit MCC, since MCC and SCLC have different therapeutic strategies. Finally, chromosome X may be of prognostic relevance in MCC, which apparently predominates in females and yet shows poorer prognosis in males, and hence be worthy of further investigation.- - - - - - - - - - ranking = 1keywords = neuroectodermal (Clic here for more details about this article) |
2/247. A case report including EM and dna repair investigations in a dermatosis associated with multiple skin cancers: epidermodysplasia verruciformis.This report describes the clinical, histological and electron microscopic observations in a 51-year-old male with epidermodysplasia veruciformis (EV). Cells with early signs of malignant transformation were found closely connected with virus infected epidermal regions. skin cancers appeared initially on sun-exposed areas, such as the face and ear lobes. The UV-induced dna repair synthesis was therefore studied, utilizing peripheral leukocytes. The patient had 40% lower UV-induced dna repair synthesis than the mean of nine healthy subjects of the same age. These results suggest that a decrease in UV-induced dna repair synthesis in combination with a possibly oncogenic viral infection may enhance the disposition for somatic mutations and malignant transformation in patients with EV.- - - - - - - - - - ranking = 0.11552411270994keywords = dysplasia (Clic here for more details about this article) |
3/247. Neurocutaneous melanosis presenting with intracranial amelanotic melanoma.We describe imaging findings in a 2-year-old girl with neurocutaneous melanosis and malignant cerebral melanoma. Because the cerebral melanoma in this child was of the amelanotic type, high-signal intensity on unenhanced T1-weighted images was not present. The cutaneous lesions played a crucial role in establishing a correct (presumed) histopathologic diagnosis on the basis of the imaging findings. To our knowledge this is the first report describing an intracranial amelanotic malignant melanoma in association with neurocutaneous melanosis.- - - - - - - - - - ranking = 36.753391660164keywords = neurocutaneous (Clic here for more details about this article) |
4/247. Linear epidermal nevus and nevus sebaceus syndromes: a clinicopathologic study of 3 patients.BACKGROUND: Linear epidermal nevus syndrome and linear sebaceus nevus syndrome are rare neurocutaneous syndromes characterized by epidermal nevi, epilepsy, and mental retardation. Pathologic descriptions of the central nervous system findings in such patients are rare. DESIGN: We examined the clinicopathologic features of 2 patients with linear epidermal nevus syndrome and 1 with nevus sebaceus syndrome who underwent surgical resections for chronic epilepsy in a tertiary referral center with a high volume of epilepsy surgery. RESULTS: patients included 3 females, aged 11 months (patient 1), 8 years (patient 2), and 2 1/2 years (patient 3) at the time of surgery. The duration of seizures prior to surgery was 11 months, 6 years, and 28 months, respectively. Two patients had epidermal nevi involving the head region (patients 1 and 3), and 1 had a nevus sebaceus of Jadassohn (patient 2); patient 2 had a choristoma, and patient 3 had a dermoid cyst in the eye region. Patient 1 demonstrated hemimegalencephaly radiographically. Histologic examination of resected cortical tissue in patients 1 and 2 demonstrated severe diffuse cortical dysplasia characterized by a disorganized cortical architectural pattern, a haphazard orientation of cortical neurons, and increased molecular layer neurons. Gyral fusion was seen in patient 1. Pial glioneuronal hamartomas were observed in patient 1. Prominent cortical astrocytosis was seen in patients 1 and 2, and foci of microcalcification were evident in patient 1. Cortical dysplasia was milder in patient 3 and consisted of an increased number of molecular layer neurons. Neuronal heterotopia was observed in all 3 patients. CONCLUSION: The spectrum of neuronal migration abnormalities in the setting of these syndromes may be variable in terms of its histologic phenotypic manifestations.- - - - - - - - - - ranking = 32.410223580659keywords = neurocutaneous, neurocutaneous syndrome, dysplasia (Clic here for more details about this article) |
5/247. Metastatic cutaneous plasmacytoma: a case report associated with IgA lambda multiple myeloma and a review of the literature of metastatic cutaneous plasmacytomas associated with multiple myeloma and primary cutaneous plasmacytomas.We present the case of a 67-year-old Japanese woman with immunoglobulin a lambda (IgA lambda) multiple myeloma (MM). She had firm nodular cutaneous lesions on the trunk and scalp without adjacent bone involvement. The patient was diagnosed as having IgA lambda MM of stage IIIA with 52% plasmacytosis in the bone marrow six months before the appearance of the cutaneous lesions. The abnormal plasma cells showed moderate to marked dysplasia in both the bone marrow and skin lesions. The abnormal plasma cells in the bone marrow exhibited abnormal karyotypes: 41, XX, der (1) t (1p; 1q), -4, -10, -14, -16, -17, 17p , that differed from the "unfavorable" karyotype reported previously. We reviewed the cases of metastatic cutaneous plasmacytoma in MM and cases of primary cutaneous plasmacytoma that have been reported in English or Japanese and identified the Ig class. Among the 83 cases of metastatic cutaneous plasmacytomas in MM, IgG, IgA, IgD, and Bence-Jones protein were found in 52%, 23%, 16%, and 6%, respectively. A disproportionately high frequency of IgD lambda MM was found to have spread to the skin, compared with the frequency of IgD MM itself, which was present in only around 2% of the MM cases. Among the 18 primary cutaneous plasmacytomas, IgG, IgA, and Bence-Jones protein were found in 56%, 11%, and 17%, respectively, but no IgD was found.- - - - - - - - - - ranking = 0.023104822541988keywords = dysplasia (Clic here for more details about this article) |
6/247. Fetal scalp cysts--dilemmas in diagnosis.Detection of fetal scalp cysts may pose diagnostic challenges in terms of differentiating between structures whose origin is ectodermal, so presumed benign, and neuroectodermal, potentially having neurological significance. We describe the first case of a fetal scalp dermoid cyst to be detected antenatally and discuss the concept of sequested meningoceles which may not have neurological consequence but can be associated with other structural abnormalities.- - - - - - - - - - ranking = 1keywords = neuroectodermal (Clic here for more details about this article) |
7/247. Systematized porokeratotic eccrine and hair follicle naevus: report of a case and review of the literature.We report a unique case of a congenital keratinocytic naevus associated with severe alopecia, onychodysplasia and palmoplantar involvement in a 13-year-old girl. The lesions, consisting of scaly, spinous and verrucous papules and plaques, mainly followed Blaschko's lines and have remained unchanged since birth. The predominant histopathological picture was that of a column of parakeratosis overlying the eccrine ostia and hair follicles. This is the first case of a systematized keratinocytic naevus characterized by histopathology of eccrine and hair follicle porokeratosis and a widespread bilateral involvement. This may be a distinct entity to be included in the differential diagnosis of linear, hyperkeratotic dermatoses. We suggest its classification as systematized porokeratotic eccrine and hair follicle naevus.- - - - - - - - - - ranking = 0.023104822541988keywords = dysplasia (Clic here for more details about this article) |
8/247. renal artery stenosis associated with epidermal nevus syndrome.Epidermal nevus syndrome is an unusual neurocutaneous disorder in which epidermal nevi are associated with abnormalities of the skeleton and central nervous system, including the eyes and somtimes the cardiovascular system. We treated a patient in whom the latter included renal artery stenosis. An 18-year-old man with epidermal nevi was diagnosed as having the syndrome based on the additional presence of scoliosis, an arachnoid cyst in the middle cranial fossa, and microphthalmos. hypertension was diagnosed when the patient was 15 years old. The plasma renin activity (9.7 ng/ml/h) was elevated. Right renal artery stenosis was demonstrated by angiography, and the abdominal aorta was narrowed distal to the ostium of the superior mesenteric artery. The plasma renin activity in the right renal vein (16 ng/ml/h) was higher than contralaterally (10 ng/ml/h). Several cardiovascular manifestations have been reported as a complication of epidermal nevus syndrome. hypertension in an individual with epidermal nevi and congenital anomalies should prompt a search for a vascular anomaly.- - - - - - - - - - ranking = 18.376695830082keywords = neurocutaneous (Clic here for more details about this article) |
9/247. association between cutaneous melanoma and neurofibromatosis type 1: analysis of three clinical cases and review of the literature.The authors report a rare association between cutaneous melanoma and Von Recklinghausen's disease (NF-1) and analyze the possible meaning of this occurrence. Various types of tumors have been associated with NF-1, in particular those of neuroectodermal origin, such as malignant peripheral nerve sheath tumors (MPNST) and phaeochromocytoma. The development of malignant melanoma in NF-1 patients is rare. Data from the literature is enable to demonstrate an increased incidence of cutaneous melanoma in patients with neurofibromatosis but the association of these two disorders seems reasonable in theory, as both are abnormalities of a neural crest origin. The cases described may represent not only a clinical report of two rarely associated disorders, but may also confirm the biological mechanisms responsible for these infrequent diseases.- - - - - - - - - - ranking = 1keywords = neuroectodermal (Clic here for more details about this article) |
10/247. The association of neurofibromatosis and hyperparathyroidism.Two patients with coexisting neurofibromatosis and hyperparathyroidism are described, bringing the total number of such cases in the world literature to seven. Other more classic examples of the association of tumorous conditions of neuroectodermal and entodermal origin are discussed to support the suggestion that the association of these two diseases may be another variant of multiple endocrine neoplasia type 2 (MEN2b). It may be clinically profitable to investigate all patients with either disease in order to uncover their coexistence.- - - - - - - - - - ranking = 1keywords = neuroectodermal (Clic here for more details about this article) |
| | Next -> |