Biomedical subjects
Publications and source records attributed to S Calvieri.
A case of ossifying fasciitis in a 22-year-old woman is described. The lesion, which appeared suddenly, was located on the tip of the nose. Histologically the lesion contained spindle-shaped myofibroblastic cells, trabeculae of woven bone rimmed by plump osteoblasts within a myxoid stroma.
OBJECTIVE: To assess the role of late ventricular potentials (LVP) in detecting early myocardial involvement in patients with systemic sclerosis (SSc). METHODS: Seventy-seven patients with SSc (68 women, 9 men, mean age 50 +/- 13 yrs) and 33 control subjects (18 women, 15 men, mean age 46 +/- 10 yrs) underwent resting electrocardiogram (ECG), 24 h Holter monitoring, complete echocardiographic and Doppler echocardiographic examination, and signal averaged ECG at high pass setting of 40 Hz, with the low pass fixed at 250 Hz. Patients with SSc underwent resting myocardial scintigraphy and radionuclide angioventriculography. RESULTS: The prevalence of LVP at 40 Hz was 20.5%. Compared to control subjects, patients with SSc showed higher prevalence of septal infarction pattern (p = 0.05), complex ventricular arrhythmias (p = 0.03), pulmonary arterial hypertension (p < 0.001), and LVP (p = 0.02). Forty-four patients with SSc (57.1%) had resting perfusion defects by myocardial scintigraphy. Fourteen of 15 patients with LVP showed perfusion defects compared to 29 of 58 without LVP (p = 0.002). Linear regression analysis showed that myocardial perfusion defect score was significantly correlated to either the filtered QRS duration, or the duration of low amplitude signals < 40 microV of the terminal QRS, or the root mean square voltage of the last 40 ms of the QRS complex. After a mean followup period of 20 months, 8 patients died. In 2 patients who died suddenly, LVP were present. CONCLUSION: Signal averaged ECG is a sensitive and inexpensive technique in the clinical assessment and followup of patients with SSc.
Explore the source record for details and available documents.
Matting of the hair is a rare condition characterized by an irreversible tangling of scalp hair. This phenomenon has an uncertain etiopathogenesis, and it is assumed that physical, chemical and electrostatic factors may lead to its onset. In our case, vigorous brushing of the hair can be suggested as the etiological factor of matting.
von Recklinghausen's disease, or type I neurofibromatosis, a common familial tumor syndrome, is characterized by the occurrence of multiple benign neoplasms of nerve sheath cells. The disease is caused by germ-line mutations of the NF1 gene, which encodes a member of the GTPase-activating superfamily of Ras regulatory proteins. We analyzed 5 dinucleotide repeat loci in DNAs from neurofibromas and matched normal skin from 16 NF1 patients. Eight cases (50%) manifested microsatellite alterations. Expansions or compressions of dinucleotide repeats were observed at one locus in four cases and at two loci in one case. Banding patterns compatible with the loss of a microsatellite allele were observed in four cases, including one that also presented microsatellite instability. The surprisingly high frequency of microsatellite alterations suggests that the NF1 gene or another gene(s) contributing to the pathogenesis of neurofibromas might be directly or indirectly implicated in the control of genomic integrity.
Many therapeutic agents have been proposed for treatment of steroid-resistant sarcoidosis. Because administration of low doses of thalidomide has been successful in treating other inflammatory diseases, it was used in a patient with systemic sarcoidosis who was unresponsive to corticosteroids and in a patient with pulmonary sarcoidosis, in whom Kaposi's sarcoma developed after a course of corticosteroid therapy. Thalidomide, 200 mg/day for 2 weeks followed by 100 mg/day for 11 weeks, was given. This treatment was effective in both patients. No adverse reactions were observed. Thalidomide, 100 mg on alternate days, is still being administered. No relapse has occurred. Thalidomide, particularly because of its inhibition of the macrophage function, may be a useful alternative therapy in steroid-resistant cases. In addition, the correlation between the angiotensin-converting enzyme level and the clinical improvement observed in our patients suggests a direct parallel between angiotensin-converting enzyme and the activity of the granulomatous process.
We report a patient affected by the rare branchio-oculo-facial syndrome. Histologic study of the branchial clefts showed thymic remnants. A scanning electron microscopic study of the hair was also performed. The clinical features of the patient were compared with those of other patients reported in the literature.
X-linked adrenoleucodystrophy (ALD) is a rare disorder of the very-long-chain fatty acid (VLCFA) metabolism. Cutaneous findings observed in a 29-year-old man included patchy non-cicatricial alopecia of the scalp, intense oily seborrhoea of the head, mild dry-scaling ichthyosis-like appearance of the trunk and legs and pseudo-acanthosis nigricans of the folds. Scanning electron-microscopic examination of the scalp hair showed trichorrhexis-nodosa-like fractures and several structural anomalies of the hair shaft. The skin surface lipid profile showed a marked increase in lignoceric acid (C24:0) which comprised over 60% of the fatty acid detectable in the fractions of triglycerides, diglycerides and free fatty acids. This behaviour of the VLCFA in the surface lipids corresponds to that observed in the plasma. If this finding were confirmed, the investigation of surface lipid composition could represent a useful non-invasive technique for the study of ALD.
The aim of the present study is to investigate further the ultrastructural skin patterns in five cases of late infantile ceroid-lipofuscinosis: two of these were classic forms, the others were variants. Ultrastructural examinations of skin biopsies revealed the presence of characteristic cytosomes; typical lipofuscin, consisting of osmiophilic granular materials, curvilinear bodies, and fingerprint bodies. Different ultrastructural profiles were found simultaneously in each case, without a significant prevalence of any specific one, and were often associated with lipid droplets. These inclusions were found in several epidermal and dermal cells. A different degree of involvement of the myelinated sheaths in the five cases was observed. This difference could be genetically determined or perhaps related to different stages of the disease. The findings demonstrate the involvement of clinically unaffected skin and confirm the relevance of electron microscopic studies in diagnosing these disorders. In fact, recognition of typical ultrastructural changes is a valuable diagnostic tool that can be used in supplementing clinical and electrophysiological examinations, especially when the metabolic error is unknown and no diagnostic biochemical assay is available.
A 16-year-old girl had a three-year history of many café au lait spots and freckles in a dermatomal distribution. The diagnosis of segmental neurofibromatosis (NF-5) was made on the basis of the clinical features, distribution of the lesions, and absence of systemic involvement. Only a few cases in the literature describe NF-5 with only macular lesions. An accurate clinical examination is important to identify this unusual presentation.
An 18-month-old and an 8-year-old girl had trichothiodystrophy (TTD). Microscopic observation of the hair under polarized light showed typical alternation of bright and dark bands; amino acid analysis of the hair demonstrated a marked reduction of cystine levels. Both patients had skin lesions consisting in the older child of diffuse follicular keratosis since birth, and in the younger of an ichthyosiform dermatitis on the lower legs that appeared at age 4 months. Ultrastructural studies of the skin showed striking similarities in both cases: perinuclear vacuoles with a unit membrane in the keratinocytes, and dispersed, irregularly arranged bundles of tonofilaments particularly at the desmosome junction. The origin of the vacuoles is unknown; the abnormalities of the tonofilaments could be explained on the basis of a generalized abnormality in sulfur-containing proteins, reflecting a disturbance in the synthesis of keratins. These electron microscopy findings could be considered as a peculiar feature of ichthyotic skin in patients with TTD.
Progressive systemic sclerosis (PSS) is a chronic multisystemic disease characterized by vascular changes, lung fibrosis and skin conditions. The lung is one of the most commonly involved organs in the patients suffering from this disease. Lung changes, along with heart involvement, represent one of the major causes of death in PSS patients. CT and high-resolution computed tomography (HRCT) scans and chest radiographs were obtained in 26 patients with PSS. The evaluation of chest films included the assessment of an average profusion score. The HRCT evaluation included pattern, extent and distribution of the disease. HRCT scans showed thickened septal lines in all patients and parallel subpleural lines in 6 patients (23%), while ground-glass opacification was seen in 2 cases (7.6%). Honeycomb pattern was observed in 8 patients (31%). Chest films showed definite interstitial opacification patterns in 8 cases only; 6 radiographs were equivocal and 12 (46%) normal. Five patients were followed 6 months to 3 years: 2 of them exhibited parallel worsening of skin conditions and of CT patterns, while X-ray findings in the chest were unchanged. In 2 cases skin and lung involvement were different (skin worsening and unchanged lung patterns, or viceversa). Finally, in 1 patient, the presence of patchy areas of air-space consolidation without air cysts on second-look was more consistent with bronchiolitis obliterans organizing pneumonia.
Explore the source record for details and available documents.
This study was undertaken to gain insight into the functional properties of the expanded suppressor/cytotoxic lymphocytes characteristically found in actinic reticuloid. Peripheral blood cells, either whole mononuclear cell populations or selectively enriched populations, were obtained from a patient with well-established actinic reticuloid. The patient had an expansion of circulating T lymphocytes expressing the suppressor/cytotoxic phenotype, i.e., CD3+, CD4-, CD8+. A proportion of these cells also expressed the Fc receptor for IgG. Functional studies, including pokeweed mitogen-driven immunoglobulin synthesis, mitogen and alloantigen response, natural killer and antibody-dependent cellular cytotoxicity were within normal ranges and suggested a polyclonal rather than monoclonal expansion. The present functional data extend previous phenotypic studies and support the hypothesis that a chronic reactive immunoregulatory disorder is involved in actinic reticuloid, as has been hypothesized for other T cell chronic proliferations.
A 7-year-old Italian girl with juvenile colloid milium was studied with histological, immunohistochemical, and electron microscopic methods. This patient had a well-documented history of severe sunburn and developed the lesions on the face shortly afterward. Numerous apoptotic keratinocytes were observed in the lower epidermis. These cells began their degeneration with filamentous whorl formation (or filamentous degeneration) of tonofilaments. In the papillary dermis the colloid substance was resolved by the electron microscopy into either wavy, thin filaments derived from the epidermal keratinocytes or typical amyloid filaments. Many desmosomes and gap junctions were found in the colloid substance. Polyclonal antikeratin antibody (DAKO) was positive in the colloid substance, particularly in the parts close to the epidermis. These findings suggested that juvenile colloid milium is different from adult colloid milium despite clinical similarities and that the former belongs to the group of actinic amyloid K, i.e. amyloidoses due to actinic degeneration of keratinocyte and its keratin.
Basal keratinocytes reportedly comprise two ultrastructurally recognizable populations, usually referred to as serrated basal keratinocytes (SBK) and non-serrated basal keratinocytes (NSBK). The former are responsible for dermal-epidermal anchoring, whereas the latter serve in epidermal turnover (stem cells). The size and shape of these cells were investigated by electron microscopy and computer-assisted morphometric analysis. The results showed that perimeters of both the nucleus and cytoplasm of NSBK were consistently smaller than those of SBK. The shape factor (contour index) was lower in NSBK, indicating a more regular membrane surface. Present quantitative results substantiate previous subjective reports on the ultrastructural differences between NSBK and SBK and provide additional evidence that the basal cell layer in human epidermis is actually made up of at least two types of morphologically distinct keratinocytes.
Explore the source record for details and available documents.
We describe two cases of pachydermoperiostosis, that, with the case that we have already published, allow us to present the complete clinical picture of the disease in the three forms: complete, incomplete and "forme fruste". It is interesting to note that the lack of an important symptom (digital clubbing or CVG) does not exclude the diagnosis but defines the clinical variant. The primitive hypertrophic osteoarthropathy is a common feature for the three patients, marked for I and III case, mild, but important from the diagnostic point of view, for the II case. The identification of a new marker of osteoblastic activity: osteocalcin blood level, is very important to determine the degree of activity of the disease. EM study, performed for the first time, shows an enhanced activity of the fibroblasts and a thickening of the basal membrane of the blood vessels. It is own opinion that the clinical picture observed, the vascular, the metabolic, the EM investigations give a further contribution to the understanding of this disease.