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Biomedical subjects

R Gianotti

Publications and source records attributed to R Gianotti.

At least 19 recordsLinked to original sources

The usefulness of clonality for the detection of cases clinically and/or histopathologically not recognized as cutaneous T-cell lymphoma.

BACKGROUND: The determination of clonality has proven to be a useful adjunct to the diagnosis of cutaneous lymphocytic infiltrates. It is considered particularly helpful for the distinction of mycosis fungoides (MF) and inflammatory dermatoses. OBJECTIVES: To verify the sensitivity of the polymerase chain reaction (PCR)-heteroduplex analysis of T-cell receptor gamma-chain gene (TCRgamma) rearrangements in patients with MF and to establish whether a clinicopathological re-evaluation of lesions previously unclassified or considered to be non-neoplastic entities but found to be monoclonal allowed the recognition of additional cases of MF. METHODS: Included in the study were 116 patients, seen at our Institute from April 2002 to September 2003 and tested for TCRgamma rearrangements. Thirty-six patients were affected by clinically and histopathologically proven MF, while the remaining 80 cases had not been classified or had been classified as non-neoplastic entities. The sensitivity of the molecular analysis was determined on the basis of the results obtained in the 36 patients with MF. The 29 cases of the second series of patients found to be monoclonal were clinically and histopathologically re-evaluated. RESULTS: Clonal rearrangements were found in 87.5% of patients with plaque stage MF and in 20% of those with patch stage MF. The clinicopathological re-evaluation allowed us to reclassify 15 of 29 monoclonal cases of the second series of patients as MF. CONCLUSIONS: The study showed that the PCR-heteroduplex technique can determine a high percentage of monoclonality only in plaque stage MF. However, in spite of the low sensitivity of the method, several cases previously unrecognized could be reclassified as MF when their clinical and histopathological features were re-evaluated taking into account the clonality of the lymphocytic infiltrate.

Diagnosis, Differential↗

Cutaneous larva migrans with folliculitis: a new clinical presentation of this infestation.

Two patients (a 35-year-old woman and a 33-year-old man, just returned from trips to Jamaica and Barbados, respectively) presented with cutaneous larva migrans with folliculitis, a rare and atypical clinical presentation of this infestation. Histopathological examination revealed a follicular and perifollicular infiltrate prevalently consisting of lymphocytes and neutrophils, with numerous eosinophils. Both patients were successfully treated with oral albendazole.

Adult↗

Histological features used in the diagnosis of melanoma are frequently found in benign melanocytic naevi.

AIMS: The histological features used in the diagnosis of melanoma may be present in benign naevi, but quantitative data are not available. The aim of this study was to establish the real prevalence of such features in naevi. METHODS: Ten dermatopathologists, from nine Italian institutions, studied a series of naevi. Eleven histological parameters currently used in melanoma diagnosis were analysed: asymmetry, poor circumscription, predominance of single melanocytes, irregular confluent nests, suprabasal melanocytes, hair follicle involvement, absence of maturation, cytological atypia, dermal lymphocytic infiltrate, mitoses, and necrosis. RESULTS: Ninety one naevi were examined: 22 junctional, 59 compound, and 10 intradermal. None of the studied parameters was seen in 22 of the benign naevi studied. One or more investigated features were found in 69 naevi. Poor circumscription was found in 49 cases, single melanocytic predominating in 42, asymmetry in 41, irregular confluent nests in 16, cytological atypia in 14, suprabasal melanocytes in seven, and hair follicle involvement in seven; absence of maturation, mitoses and necrosis were not found. CONCLUSIONS: The histological features used for the histological diagnosis of melanoma are often present in benign melanocytic naevi. This suggests a critical, non-mechanical use of them in melanoma diagnosis.

Adult↗

Interobserver reproducibility of histological features in cutaneous malignant melanoma.

AIMS: To assess the interobserver reproducibility of certain histological features proposed for the diagnosis of melanoma. METHODS: In a series of melanomas, 13 histological parameters were analysed: dimension > 6 mm, asymmetry, poor circumscription, irregular confluent nests, single melanocytes predominating, absence of maturation, suprabasal melanocytes, asymmetrical melanin, melanin in deep cells, cytological atypia, mitoses, dermal lymphocytic infiltrate, and necrosis. RESULTS: The agreement (reproducibility) between the nine observers was excellent (kappa > 0.75) for 10 of the 13 examined features (dimension > 6 mm, poor circumscription, irregular confluent nests, single melanocytes predominating, absence of maturation, suprabasal melanocytes, asymmetrical melanin, melanin in deep cells, mitoses, and necrosis). The agreement for asymmetry was very close to excellence (kappa = 0.74), and that for cytological atypia (kappa = 0.65) and dermal lymphocytic infiltrate (kappa = 0.47) was slightly lower, but in the fair to good agreement range. The kappa values obtained by comparison with the majority diagnosis were generally high (> or = 0.85); the mean value of kappa was lower (0.70) for only one parameter (dermal lymphocytic infiltrate). CONCLUSIONS: The parameters investigated showed an overall good reproducibility.

Humans↗

Melanocytic nevi of the breast: a histologic case-control study.

BACKGROUND: Melanocytic nevi in the genital, acral, and flexural sites often display clinical and histologic features that may simulate melanoma. We verified whether this is the case also for nevi of the breast. METHODS: Eleven dermatopathologists, from nine Italian Institutions, collected the specimens of melanocytic lesions from the breast and other body sites, excluding the acral, genital, and flexural areas, as controls. Cases and controls were matched for sex and age. All nevi were observed 'blindly' and simultaneously by all participants. For each lesion, 10 histological parameters were analyzed: asymmetry, absence of lateral demarcation of melanocytes, lentiginous proliferation, nested and dyshesive pattern, intraepidermal melanocytes above the basal layer, involvement of the hair follicle, absence of maturation of dermal melanocytes, melanocytic atypia, fibroplasia of the papillary dermis, and lymphocytic dermal infiltrate. Each parameter was scored 2 when present and 1 when absent or not valuable. A total score was calculated for each lesion. Results were statistically analyzed by the chi-square test and the Mann-Whitney U-test. RESULTS: One hundred and one nevi came from the breast area and 97 from elsewhere. Breast nevi exhibited significantly more atypical features than nevi from other sites. In particular, breast nevi with intraepidermal melanocytes, melanocytic atypia, and dermal fibroplasia were significantly more numerous. We did not find any sexual difference. CONCLUSIONS: To avoid undue concerns, dermatopathologists should be aware that melanocytic nevi of the breast may show a high degree of atypical features.

Adolescent↗

Progressive histiocytosis: description of a case of slow-course non-Langerhans cell histiocytosis.

We describe the case of a 37-year-old male patient who in 1992 started developing a skin eruption characterized by dark red to red-yellow papulonodular lesions that showed no tendency to spontaneous resolution. Visceral organs were not involved and the lipid pattern was basically normal. Histological examination revealed an infiltrate in the mid and upper dermis mainly consisting of mononucleated and multinucleated histiocytes with an abundant eosinophilic cytoplasm and a ground glass appearance, admixed with numerous xanthomatized cells and Touton and foreign-body giant cells. Immunohistochemical studies showed positivity for CD68 and negativity for CD1a and S-100 protein, whereas at the electron microscopy level the only peculiar finding was the presence of many desmosome-like junctions. The authors believe this to be a borderline form between papular xanthoma and reticulohistiocytosis.

Adult↗

Clear cell papulosis (pagetoid papulosis) in a non-Asian patient.

Clear cell papulosis is a recently described disorder which is characterized by multiple flat, slightly elevated, hypopigmented papules, distributed mainly on the lower part of the trunk of healthy children. Histologically, the disease shows 'clear cells' with a pagetoid appearance spread among keratinocytes in basal and suprabasal layers of the epidermis. These cells stain for AE1, CEA and EMA, making a relationship to eccrine or apocrine elements likely. All cases reported until now describe Asian children. The first European child with clear cell papulosis is presented.

Child, Preschool↗

Delleman syndrome: report of a case with a mild phenotype.

Delleman syndrome is a rare disorder characterised by orbital cysts, micro/anophthalmia, malformations of the central nervous system, focal aplasia cutis, and multiple skin appendages (oculocerebrocutaneous syndrome). Although cutaneous findings provide the main clues for the diagnosis, the syndrome has received little attention in the dermatological literature. A new case of oculocerebrocutaneous syndrome with predominant and typical cutaneous involvement is reported.

Abnormalities, Multiple↗

Case report. Tinea corporis purpurea.

We report a case of tinea corporis purpurea localized to a calf in a 36-year-old woman. The patient, who was also affected by mild superficial venous insufficiency of lower limbs, complained of intense pruritus. Microsporum canis was the aetiological agent. Clinically atypical varieties of tinea corporis were sometimes reported in the literature, particularly in HIV-positive patients, although they are uncommon in immunocompetent patients; in particular, tinea corporis purpurea is very rare.

Adult↗

Congenital cutaneous multifocal kaposiform hemangioendothelioma.

Kaposiform hemangioendothelioma is a rare vascular neoplasm in children often associated with Kasabach-Merritt syndrome. The tumor usually presents in retroperitoneal location and is rarely present at birth. Cutaneous lesions manifest after birth and must be clinically differentiated from infantile hemangiomas and diffuse neonatal hemangiomatosis. Histologically, it bears similarities with Kaposi sarcoma. We present a case of congenital cutaneous multifocal kaposiform hemangioendothelioma (KHE).

Antigens, CD34↗

Evidence of retroviral involvement in an Italian patient with Ofuji's disease.

Ofuji's disease, also known as 'eosinophilic pustular folliculitis', is a rare inflammatory skin disorder of unknown aetiology, which affects mostly adult Japanese males. Only few Caucasian patients have been described so far. We report the case of a 44-year-old Italian woman with Ofuji's disease who had circulating antibodies against the recombinant envelope glycoprotein (Rgp46I) of HTLV-1. By means of a very sensitive nested PCR, the tax region of HTLV-1, but not other regions, was found in peripheral blood mononuclear cells. Our observations suggest that a retrovirus, closely related to HTLV but not yet identified, could be involved in the pathogenesis of the disease in this patient.

Adult↗

[Measuring corneal thickness in photo-keratectomy with a reflectometry incorporated into the laser beam of the excimer laser].

PURPOSE: To integrate a newly developed OLCR instrument into the optical system of the excimer laser. The instrument is designed to perform corneal pachymetry before, during, and after corneal photoablation and thus allow for a precise and continuous on-line measurement of the corneal photoablation process. METHODS: The conditions required to integrate the OLCR instrument into the excimer laser optics were investigated. With a technical setting providing on-line data of corneal thickness, three groups of 8-10 corneae received central keratectomies of 27 (group 1), 82 (group 2) and 163 (group 3) microns calculated central depth and 7.38 mm diameter. All measurements were performed with OLCR and ultrasound. RESULTS: The OLCR instrument was coupled into the optical system of the excimer laser and a useful signal obtained at SLD power levels of 40 microW incident on the cornea. Individual corneal thickness measurements were obtained before, during and after the photoablation procedure. In group 1, the ablation was 50.3 (40-68) microns measured with ultrasound and 30.2 (27-38) microns measured with OLCR. In group 2, the ablation was 101.1 (80-113) microns measured with ultrasound and 93.3 (76-109) microns measured with OLCR. In group 3, the ablation was 210.6 (190-227) microns measured with ultrasound and 188.4 (181-197) microns measured with OLCR. The precision (standard deviation) for measurements of individual corneas was 1-2 microns with OLCR and up to 12 mm in Ultrasound measurements. CONCLUSION: With this interferometric method, continuous, non-contact measurement of corneal thickness before, during and after excimer laser photoablation were performed. By establishing a feed-back control between the pachymetric measurements and the photoablation process, the precision of excimer ablation may possibly be further increased.

Animals↗

Cutaneous apocrine mixed tumor: derived from the apocrine duct of the folliculo-sebaceous-apocrine unit?

We report a case of cutaneous mixed tumor (CMT) composed of tubular branching structures lined by cells with apocrine characteristics. In addition, an apocrine duct in the outer sheath of an hair follicle was connected to the mixed tumor, a previously unreported finding. Follicular and sebaceous differentiation have been described in CMT, leading some observers to suggest the existence of an apocrine type of CMT and its presumed differentiation toward the folliculo-sebaceous-apocrine unit (FSAU). Our case demonstrated continuity of an apocrine duct in the FSAU and lends support to the previous speculations about the histogenesis of apocrine type of CMT.

Apocrine Glands↗

Cutaneous apocrine mixed tumor: derived from the apocrine duct of the folliculo-sebaceous-apocrine unit?

We report a case of cutaneous mixed tumor (CMT) composed of tubular branching structures lined by cells with apocrine characteristics. In addition, an apocrine duct in the outer sheath of an hair follicle was connected to the mixed tumor, a previously unreported finding. Follicular and sebaceous differentiation have been described in CMT, leading some observers to suggest the existence of an apocrine type of CMT and its presumed differentiation toward the folliculo-sebaceous-apocrine unit (FSAU). Our case demonstrated continuity of an apocrine duct in the FSAU and lends support to the previous speculations about the histogenesis of apocrine type of CMT.

Apocrine Glands↗