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M C Fargnoli

Publications and source records attributed to M C Fargnoli.

18 recordsLinked to original sources
PubMed2007

The additive value of second opinion teleconsulting in the management of patients with challenging inflammatory, neoplastic skin diseases: a best practice model in dermatology?

BACKGROUND: Telemedicine is the practice of healthcare using interactive processes of communication to facilitate healthcare delivery, including diagnosis, consultation and treatment, as well as education and transfer of medical data. The aim of teledermatology, just as telemedicine, is to promote best practice procedures and to improve the consistency and competence of health care. AIM: To investigate the diagnostic additive value of second opinion teleconsulting in patients with challenging dermatoses, among dermatologists working in two different dermatology departments. SETTING: Thirty-three cases of patients with challenging inflammatory and neoplastic skin diseases at the University of L'Aquila Department of Dermatology were sent for teleconsultation to the Department of Dermatology, Medical University of Graz, Austria. METHODS: All cases were selected in the outpatient service in L'Aquila. After face-to-face consultation with a local colleague had been completed, images were sent using a store-and-forward (SAF)-based system (http://www.telederm.org) to Graz. Histopathological examination together with follow-up of the patient represents the diagnostic gold standard for this study. RESULTS: Telediagnosis was correct in 26 of 33 (78.8%) cases. Sixteen of 33 cases (48.5%) had already been diagnosed face-to-face by at least one of the two dermatologists in L'Aquila. In 10 of 33 cases (30.3%), the correct diagnosis was made in teleconsultation only. CONCLUSIONS: Second opinion teleconsulting may represent an additive value in the diagnosis of numerous challenging inflammatory and neoplastic skin diseases. It may be particularly useful as a best practice model for smaller departments in order to discuss and/or to confirm diagnoses and also for the management of patients with unusual difficult dermatoses.

Benchmarking↗
PubMed2001

Mucosal involvement in a patient with lymphomatoid papulosis.

We report a 38-year-old woman with lymphomatoid papulosis (LyP) who had nodular and papulovesicular lesions develop on the genital area and oral commissure. Mucosal involvement in LyP is a rare event, and its clinical relevance is still unknown. Aggressive therapies are not recommended in patients with LyP with either cutaneous or mucosal involvement.

Adult↗
PubMed1999

Reduced expression of CDKN2a/P16INK4a in mycosis fungoides.

Alterations in the CDKN2a gene have been demonstrated in a wide range of human tumors including hematopoietic malignancies. To verify whether altered CDKN2a expression is involved in the pathogenesis of mycosis fungoides (MF), we examined mRNA expression in 20 patients with MF by RT-PCR and dot blot hybridization. CDKN2a mRNA expression was undetectable in 5 of the 20 patients (25%), intermediate in 13 (65%) and high in 2 (10%). Immunohistochemical studies, which were performed in ten patients, revealed that in the four patients showing no mRNA, p16INK4a was expressed in <1% of neoplastic lymphocytes whereas in the four patients with an intermediate mRNA level, specific nuclear staining was present in 1-25% of tumor cells. In the two patients with high levels of CDKN2a mRNA, >25% of neoplastic lymphocytes stained positively. No direct correlation between clinicopathological and molecular findings was evident in our patients. DNA mutational analysis revealed no alterations in a total of six patients examined. Our results indicate that the lack of CDKN2a expression, as found in 25% of the patients, may have a pathogenetic role in MF even though the absence of CDKN2a mRNA was not associated with point mutations or minor gene deletions.

Adolescent↗
PubMed1999

The use of chemical peelings in the treatment of different cutaneous hyperpigmentations.

BACKGROUND: Several chemical agents including hydroquinone, retinoic acid, and azelaic acid are currently used in the treatment of cutaneous hyperpigmentations. Recently chemical peelings with kojic acid, glycolic acid, and trichloroacetic acid, either alone or in combination, have been introduced for treatment of hyperpigmentations. OBJECTIVE: The purpose of our study was to evaluate the efficacy of trichloroacetic acid as well as glycolic acid associated with kojic acid in the treatment of cutaneous hyperpigmentations. METHODS: Twenty patients with diffuse melasma were treated with a solution composed of 50% glycolic acid and 10% kojic acid whereas 20 patients with localized hyperpigmentations (lentigo) were treated with 15%-25% trichloroacetic acid. RESULTS: Complete regression of diffuse melasma was observed in 6 of 20 patients (30%), a partial regression in 12 of 20 patients (60%), and no regression in 2 of 20 patients (10%) treated with 50% glycolic acid and 10% kojic acid. Complete regression of localized hyperpigmentations was observed in 8 of 20 patients (40%), a partial regression in 10 of 20 patients (50%), and no regression in 2 of 20 patients (10%) treated with 15-25% trichloroacetic acid. CONCLUSIONS: Based on our findings, both peelings can be considered effective in the treatment of cutaneous hyperpigmentations.

Adult↗
PubMed1998

Peripheral nervous system involvement in a patient with large T-cell lymphoma arising from a pre-existing mycosis fungoides.

A 29-year-old man was examined for disseminated erythematous scaling patches and plaques and reddish, partially ulcerated nodules. Histological examination showed a dense, diffuse, epidermotropic infiltrate located in the entire dermis to the subcutaneous tissue, composed mainly of large pleomorphic T lymphocytes. Immunohistochemistry revealed positivity of neoplastic cells for T-cell-associated markers, negativity for CD30 antigen and for B-cell markers. Polymerase chain reaction analysis detected a clonal amplification of T-cell receptor gamma. Based on clinicopathological and molecular findings, the diagnosis of large T-cell lymphoma (LCL) arising from a pre-existing mycosis fungoides was made. Seven months after primary diagnosis, meningeal and peripheral nervous system involvement developed with no other evidence of systemic disease. Despite chemotherapy and radiation therapy, the patient died 3 months after the diagnosis of nervous system involvement. In patients with cutaneous LCL, mild neurological symptoms may precede the complete diagnostic picture by some weeks. A rapid and fatal progression characterizes the clinical course of the disease.

Adult↗
PubMed1998

CDKN2a/p16INK4a mutations and lack of p19ARF involvement in familial melanoma kindreds.

Germline mutations in the cyclin-dependent kinase inhibitor 2a (CDKN2a) gene, which maps to the 9p21 chromosomal region and encodes the cyclin-dependent kinase inhibitor p16INK4a, have been detected in a proportion of familial melanoma kindreds, suggesting that it is the putative 9p21-linked melanoma susceptibility gene. The p19ARF transcript, an alternative spliced form of the CDKN2a gene, has recently been shown to inhibit, like the p16INK4a protein, cell cycle progression, raising the possibility that it might constitute an additional melanoma tumor suppressor gene at the 9p21 locus. To determine the contribution of these candidate genes to familial melanoma genetic predisposition, we screened 10 such kindreds for germline mutations in the p16INK4a and p19ARF genes. Four independent germline missense mutations, mapping in exon 1alpha (Gly23Asp; Arg24Pro) and exon 2 (Asn71Ileu; Pro114Leu) of the CDKN2a gene, were identified. Two previously described polymorphisms were also detected, Ala148Thr in exon 2 and a base change in the 3' untranslated region of exon 3. No disease-associated mutations in exon 1beta of the p19ARF gene were found. Our data support the hypothesis that the CDKN2a is a melanoma susceptibility gene in familial melanoma, whereas the p19ARF gene does not seem to play a significant role.

Adult↗
PubMed1997

Diminished TCR signaling in cutaneous T cell lymphoma is associated with decreased activities of Zap70, Syk and membrane-associated Csk.

Malignant cells of patients with cutaneous T cell lymphoma (CTCL) are of monoclonal origin and of the CD4+/CD45RO+ subset. Since unlike their normal counterparts, triggering of their TCR/CD3 in vitro elicits only a weak mitogenic response, we set out to determine which of the signal transduction molecules initiated by anti-CD3E antibodies are affected in neoplastic cells. The results obtained from analysis of tumor cells from four patients show a general reduction in basal and induced tyrosine phosphorylation of a wide range of signaling proteins. Furthermore, the function of members from distinct families of protein tyrosine kinases was altered in neoplastic cells. The enzymatic activity of the membrane-bound fraction of Csk was suppressed, and its association with other cellular proteins was altered. There was a decline in the amount and activity of Syk, and a slight decrease in the specific activity of Lck kinases. Zap70 tyrosyl phosphorylation was reduced or undetectable and the kinase associated weakly, or not at all, with the TCR zeta chain. We propose that dampened TCR-triggered responses in CTCL are caused by suppression of an array of effector molecules required for coupling cell surface receptors to early and late signaling events.

Adult↗
PubMed1996

Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome.

BACKGROUND: The term Bannayan-Riley-Ruvalcaba syndrome has been proposed to reflect the clinical overlap of 3 conditions previously described as separate entities, each inherited in an autosomal dominant fashion. They are the Riley-Smith, Bannayan-Zonana, and Ruvalcaba-Myhre-Smith syndromes. OBSERVATIONS: We studied 2 kindreds with the Bannayan-Riley-Ruvalcaba syndrome. Characteristic cutaneous findings included multiple subcutaneous lipomas and vascular malformations, lentigines of the penis and vulva, verrucae, and acanthosis nigricans. Macrocephaly with normal ventricular size, mental retardation, central nervous system vascular malformations, intestinal polyposis, skeletal abnormalities, and thyroid tumors were the most common systemic featues. A striking clinical finding in 1 patient was widespread verrucous changes of both lips that histologically showed epidermal hyperplasia with papillomatosis and hyperkeratosis. Biopsy specimens of facial papules demonstrated the histological features of both syringomas and trichilemmomas. Lentiginous hyperplasia of the epidermis with increased pigment in the basal layer and a slight increase in the number of melanocytes were seen in biopsy specimens of the penile lentigines. CONCLUSIONS: The histologic findings of both the facial lesions and the pigmented macules of the penis in the Bannayan-Riley-Ruvalcaba syndrome have not, to our knowledge, been reported previously. The similarities between the Bannayan-Riley-Ruvalcaba syndrome and Cowden disease raise the possibility of a common genetic pathogenesis for these 2 diseases.

Abnormalities, Multiple↗
PubMed1995

Pentachrome vitiligo.

The term "trichrome vitiligo" has been used to describe lesions of vitiligo that have an intermediate level of color between the achromic center and the peripheral unaffected skin. We describe a 12-year-old black girl with a generalized pigmentary disorder that first appeared when she was 3 years of age. Five shades of colors--white, tan, medium brown (unaffected skin), dark brown, and black--were present. Biopsy specimens of the depigmented areas showed a complete absence of melanocytes, whereas the most hyperpigmented areas were characterized by an increase in epidermal pigment and number of melanocytes. The lack of any preceding inflammation in the affected areas and the subsequent widespread spontaneous depigmentation that occurred within 1 year pointed to a diagnosis of "pentachrome vitiligo."

Biopsy↗
PubMed1995

Use of recombinant interferon alfa-2b in the treatment of basal cell carcinoma.

BACKGROUND: Several neoplasms including cutaneous T-cell lymphomas, malignant melanoma and Kaposi's sarcoma have been successfully treated with systemic or intralesional interferons (IFNs). Recently, intralesional alpha-IFN has also been employed in the treatment of basal cell carcinoma (BCC). OBJECTIVE: The aim of our study was to evaluate the efficacy of IFN alfa-2b in the treatment of BCC. METHODS: 140 patients with BCC were treated with intra- und perilesional injections of recombinant IFN alfa-2b at a dosage of 1.5-3 x 10(6) IU, three times a week for 4-8 weeks. RESULTS: Complete response was achieved in 94 patients (67.1%), partial response in 33 patients (23.6%) and no response in 13 patients (9.3%). Side effects included fever, headache, fatigue and nausea but were reversible with the use of paracetamol. None of the patients discontinued therapy due to side effects. After a mean follow-up period of 36 months (12-54 months) no relapse has been observed. CONCLUSION: Based on our results, intra- and perilesional IFN alfa-2b represents an effective, alternative treatment for BCC.

Adult↗
PubMed1994

Effects of ultraviolet irradiation on the cell cycle.

Cultured mouse Cloudman melanoma cells, EMT6 breast carcinoma cells, and 3T3 fibroblasts all accumulated in the G2/M phase of the cell cycle when exposed to UVB radiation. The effects of UVB were maximal at 20-30 mJ/cm2 for all three cell lines, and could be observed by flow cytometry as early as 12 hr post irradiation. It has been known since the mid-1970s that MSH receptor binding activity is highest on Cloudman melanoma cells when they are in the G2/M phase of their cycle. Here we show that either UVB irradiation or synchronization of Cloudman cells with colchicine results in a stimulation of MSH binding within 24 hr following treatment, a time when both treatments have resulted in accumulation of cells in the G2/M phase of the cycle. Furthermore, the two treatments performed together on the melanoma cells stimulated MSH receptor activity to the same extent as either treatment performed separately, suggesting that each may be influencing MSH receptor activity solely through a G2/M accumulation of cells. Together, these results raise the possibility that an increase in the number of cells in the G2 phase of the cell cycle is a generalized cellular response to injury, such as UV irradiation. However, in the case of pigment cells this response includes a mechanism for increasing melanin formation, i.e., increased MSH receptor activity. Should this be the case, similar G2/M "injury responses" of other cell types might be expected, consistent with their differentiated phenotypes.

Animals↗
PubMedDate not supplied

Cutaneous manifestations in Italian kidney transplant recipients.

Several cutaneous disorders may occur in organ transplant recipients. We examined the incidence and the clinical spectrum of cutaneous manifestations among kidney transplant recipients. One hundred nine patients (70 males and 39 females), aged 19 to 69 years (mean: 42.5 years), were consecutively examined as outpatients between June 2000 and August 2004. The mean interval after kidney transplantation was 61 months (range: 2 to 120 months). The immunosuppressive regimen consisted of combinations including cyclosporine, systemic corticosteroids, azathioprine, tacrolimus, mycophenolate mofetil, antivirals, and antibiotics. Ninety-one cutaneous manifestations were identified in 60 of 109 (55.0%) kidney transplant patients over a 4-year period. Sixteen (17.5%) cutaneous viral infections identified in 11 patients (10.0%) included verruca vulgaris (n = 9), herpes zoster (n = 5) and herpes simplex (n = 2). Thirteen (11.9%) patients showed 19 (20.8%) superficial fungal infections, consisting of dermatophytosis (n = 6), onycomycosis (n = 6), pityriasis versicolor (n = 5) and mucocutaneous candidiasis (n = 2). Twenty (22%) nonmelanoma skin cancers were identified in seven (6.4%) patients, six basal cell carcinomas (BCC) in four patients, two squamous cell carcinomas (SCC) in two patients, and 11 BCCs in addition to one SCC in one patient. Twenty-six (23.8%) patients developed 32 (35.4%) drug-related manifestations, including acneiform eruption (n = 14), gingival hypertrophy (n = 6), hypertrichosis (n = 6), ecchymosis (n = 3), and plantar hyperkeratosis (n = 3). In addition, psoriasis and seborrheic dermatitis, which had been diagnosed before kidney transplantation, were observed in five and three patients, respectively. Our results emphasize the importance of dermatologic examinations and monitoring kidney transplant recipients to obtain an early diagnosis and treatment of cutaneous manifestations.

Adult↗