[Morphogenesis of optic path ways in the newborn rat: biochemical and morphological correlations].
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Acetyltransferases↗
Biomedical subjects
S Calvieri
Publications and source records attributed to S Calvieri.
The presence of smooth muscular cells in the ovary of several mammals as seen under the electron microscope.
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Animals↗
Cranioectodermal dysplasia: a new patient with an inapparent, subtle phenotype.
Cranioectodermal dysplasia is a rare syndrome characterized by craniofacial and skeletal anomalies and ectodermal dysplasia. Life-threatening associated conditions (i.e., kidney failure and abnormal regulation of the parathyroid-bone axis) can also develop. We report a patient whose features are suggestive of an inapparent, subtle phenotype of the syndrome. The patient is a 4-year-old girl with only dolichocephaly and clinodactyly; microdontia, hypodontia, and taurodontia (i.e., cone-shaped teeth); anteverted nares, full cheeks, and everted lower lip; epicanthal folds, hypertelorism and hyperopia; and corpus callosum hypoplasia. She has no rhizomelic limb shortening or hair abnormalities. In view of the rarity of the cranioectodermal dysplasias, the variability of the phenotype, and the uncertain outcome of some previously described patients, we believe this inapparent, subtle case should reported to enable better understanding and treatment of this rare syndrome.
Bone and Bones↗
Contact dermatoses in metal workers.
We studied 150 metal workers occupationally exposed to metals and metalworking fluids (MWFs) to determine the prevalence and nature of contact dermatitis. 150 office workers were used as non-exposed control group. Questionnaires were administered to evaluate occupational and non-occupational exposure. All subjects underwent a dermatological examination and patch-testing with standard allergen series and MWFs used in the plant. Twenty-eight metal workers (18.6%) presented minor skin disorders involving the hands (vs. only 2% of the controls), ten (6.6%) had major disorders (similar to the figure for the control group - 5.4%), and 112 (74.8%) had no lesions, as opposed to 92.6% of the control group. Positive patch tests were found in ten metal workers: eight had major skin disorders (six to nickel, cobalt and chromium, one to nickel and cobalt, one to nickel) and the remaining two were asymptomatic (one positive for nickel and chromium, one for nickel). Among the controls there were three cases of positivity, all among asymptomatic subjects. Patch tests with MWFs were negative. The prevalence of dermatoses among the metal workers was significantly higher than that of controls (p<0.01), and all cases of allergy in this group were provoked by metals themselves.
Journal Article↗
[The role of MRI in the diagnosis and evaluation of extension of the disease and condition of patients with neurofibromatosis].
Neurofibromatosis 1 (NF 1) and Neurofibromatosis 2 (NF 2) have been recently recognized to be distinct disorders through genetic linkages. MR imaging can be used to identify abnormalities of the head and spine in patients with these disorders. This review highlights some important but lesser known aspects of the two more common phakomatoses. The role of newer imaging technique such as contrast-enhanced MR imaging in the evaluation of these disorders also are discussed.
Humans↗
Inflammatory cutaneous metastasis from laryngeal carcinoma.
The authors report the case of a 64-year-old man who presented with erythematous infiltrating plaques sited on his right supraclavicular and infraclavicular regions. Five years before a laryngeal epidermoid carcinoma had been surgically removed. After two years the patient underwent lymphadenectomy and radiotherapy for the presence of metastasis in his right cervical lymph nodes. He was disease free until two months before our examination when small red spots appeared on his right supraclavicular region, slightly enlarging. A skin biopsy was performed and histological examination showed the presence of metastatic cells inside dilated lymphatic vessels. Immunohistochemical markers showed only positive staining of atypical cells with monoclonal anti-cytokeratin antibodies (cytokeratin B-ORTHO=34betaE12) confirming the epithelial origin of metastastic cells. A diagnosis of inflammatory cutaneous metastasis from laryngeal epidermoid carcinoma was given. This type of metastasis has been frequently observed in patients with breast carcinoma and it has also been described during the course of other malignant tumours. Malignant tumour of the larynx generally spreads to regional lymph nodes or, through blood, to the lungs. Skin metastasis have rarely been described, and always as multiple or solitary nodules. According to our knowledge this is the first case of inflammatory cutaneous metastasis from laryngeal epidermoid carcinoma reported in the literature.
Carcinoma, Squamous Cell↗
The spectrum of dermatological symptoms of pachydermoperiostosis (primary hypertrophic osteoarthropathy): a genetic, cytogenetic and ultrastructural study.
Pachydermoperiostosis (PDP) is characterized by finger clubbing, periostosis and peculiar skin involvement (pachydermia, seborrhea and folliculitis). The aim of our work was to determine the occurrence of dermatological symptoms in patients with PDP and their relatives, and to study ultrastructural skin changes in the complete and incomplete forms of the disease. A genetic and cytogenetic study was performed in order to identify the mechanism of transmission, to discover possible links to other genetic and non-genetic diseases and to determine the chromosomal complement and eventual chromosomal anomalies. Pachydermia was the most frequent skin alteration together with seborrhea; folliculitis was present in five patients. In the relatives mild pachydermia was detected in 2 out of 26, while seborrhea was present in 6 subjects. Light microscopic observation showed acanthotic epidermis and endothelial hyperplasia in the dermis with partial occlusion of the lumen, lymphohistiocytic infiltrate, and thickening and packing of collagen fibers. Electron microscopy showed fibroblast activation with increased fibrillogenic activity as shown by hypertrophic Golgi complexes and rough endoplasmatic reticulum with cisternae filled with microfibrils. Endothelial cells partially or completely occluded the capillary lumen and presented an increased amount of Weibel Palade bodies. These data show that skin involvement in PDP is a prominent feature, that sometimes these symptoms may also be present in their relatives, and that endothelial and fibroblast activation is present in the skin. Unfortunately the cytogenetic study did not provide any information about possible karyotype abnormalities.
Adult↗
Pachyonychia congenita with steatocystoma multiplex. A report of two cases and a discussion of the classification.
Pachyonychia congenita is a rare syndrome in which the main and most common clinical sign is onychodystrophy of all finger and toe nails. The most frequent type of transmission seems to be autosomal dominant, but recessive forms have also been described. Typical onychodystrophy can be associated with other clinical manifestations. The most recent literature refers to descriptions of about 250 cases up until 1993. Numerous classifications of pachyonychia congenita have been suggested by several authors over the years. We report two cases of pachyonychia congenita in association with steatocystoma multiplex in a mother and son.
Adult↗