Mario Delfino

Publications (9)24.96 Total impact

• Article: New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.

  Sandra Iossa, Viviana Chinetti, Gennaro Auletta, Carla Laria, Maria De Luca, Monica Rienzo, Pasquale Giannini, Mario Delfino, Alfredo Ciccodicola, Elio Marciano, Annamaria Franzé
  [show abstract] [hide abstract]
  ABSTRACT: The GJB2 gene located on chromosome 13q12 and encoding the connexin 26 (Cx26) protein, a transmembrane protein involved in cell-cell attachment of almost all tissues, including the skin, causes autosomal recessive and sometimes dominant nonsyndromic sensorineural hearing loss. GJB2 mutations have also been identified in syndromic disorders exhibiting hearing loss associated with skin problems. Recently, a new mutation, p.G130V in the GJB2 gene has been reported as causative for Vohwinkel syndrome. In this case the p.G130V mutation was found in two patients (son and father) with palmoplantar keratoderma. The father also showed also skin constrictions of the 2nd and 3rd toes of the right foot. Here, we report on another family with palmoplantar keratoderma associated with a dominant form of hearing loss confirming the genotype-phenotype correlation between the mutation p.G130V and the skin abnormalities observed in syndromic disorders with hearing loss as described by [Snoeckx et al. (2005) Hum Mutat 26:60-65].
  American Journal of Medical Genetics Part A 09/2008; 149A(4):685-8. · 2.39 Impact Factor
• Article: Expression of HECA-452 antigen correlates with disease relapse in mycosis fungoides.

  Rossella Di Trolio, Giuseppe Di Lorenzo, Alessandro Iacono, Alessandra Filosa, Mario Delfino, Francesco Paolo D'Armiento
  [show abstract] [hide abstract]
  ABSTRACT: To determine the expression of HECA-452 epitope in mycosis fungoides (MF), assess whether its expression increases in relapsed MF compared with nonrelapsed MF and determine the potential prognostic relevance of HECA-452 expression. HECA-452 expression was evaluated by immunohistochemistry in a consecutive series of 20 MF. In all patients we evaluated the disease-free survival rate according to HECA-452 expression in a univariate analysis. We found a low expression in 5 MF (25%), a moderate expression in 8 MF (40%) and a high expression in 7 MF (35%) in the intraepidermal area. All patients were disease-free after appropriate therapy. Four of 20 patients (20%) relapsed within 2 years. HECA-452 expression significantly correlated with disease relapse in these patients. In fact, among the 7 patients whose lesions had a high expression, 4 had a disease recurrence (57%), whereas 0 of 13 (0%) with a low or moderate expression relapsed (p < 0.05). HECA-452 expression correlates with disease relapse in MF. Correlation with disease progression suggests that HECA-452 could be of prognostic relevance in the early stage of mycosis fungoides.
  Analytical and quantitative cytology and histology / the International Academy of Cytology [and] American Society of Cytology 08/2008; 30(4):203-8. · 0.41 Impact Factor
• Article: Pegylated liposomal doxorubicin as second‐line therapy in the treatment of patients with advanced classic Kaposi sarcoma

  PhD Giuseppe Di Lorenzo MD, Rossella Di Trolio MD, Vincenzo Montesarchio MD, Giovanna Palmieri MD, Paola Nappa MD, Mario Delfino MD, Sabino De Placido MD, Bruce J. Dezube MD, Giuseppe Di Lorenzo, Rossella Di Trolio, Vincenzo Montesarchio, Giovanna Palmieri, Paola Nappa, Mario Delfino, Sabino De Placido, Bruce J. Dezube
  [show abstract] [hide abstract]
  ABSTRACT: BACKGROUND.Classic Kaposi sarcoma (CKS) is a rare neoplasm that predominantly occurs in elderly subjects and has a variable clinical evolution. The clinical course is usually indolent, but occasionally the neoplasm progresses rapidly and spreads to internal organs, necessitating systemic chemotherapy. Because of the rarity of CKS, the best treatment has not been determined to date. To the authors' knowledge, few data exist regarding the use of pegylated liposomal doxorubicin (PLD) as first-line and second-line treatment in advanced CKS. The current retrospective study investigated the activity and toxicity of PLD in pretreated patients with aggressive, nonvisceral CKS.METHODS.Patients were treated with PLD at a dose of 20 mg/m2 intravenously every 3 weeks until disease progression or the occurrence of intolerable side effects. Objective responses were determined after 3 and 6 cycles; toxicity was assessed every cycle. Secondary endpoints were pain intensity, progression-free survival, and overall survival.RESULTS.Twenty men with pretreated CKS (median age, 67 years) were treated with PLD. All patients received at least 6 cycles of therapy. Complete and partial responses were observed in 2 patients (10%) and 14 patients (70%), respectively. Neutropenia was the most significant grade 3 hematologic toxicity observed (evaluated according to the National Cancer Institute Common Toxicity Criteria for Adverse Events [version 3.0]), occurring in 20% of patients. Only 1 patient (5%) demonstrated grade 4 neutropenia. Fourteen patients (70%) achieved remission of pain and/or edema after 6 cycles. The median progression-free survival was 9 months (95% confidence interval, 5–13 months). At a median follow-up of 36 months, 15 patients (75%) remained alive.CONCLUSIONS.PLD is associated with an improvement in objective response and pain intensity and is well tolerated as a second-line treatment for CKS. Cancer 2008. © 2007 American Cancer Society.
  Cancer 02/2008; 112(5):1147 - 1152. · 4.77 Impact Factor
• Article: A long-term gluten-free diet as an alternative treatment in severe forms of dermatitis herpetiformis.

  Massimiliano Nino, Carolina Ciacci, Mario Delfino
  [show abstract] [hide abstract]
  ABSTRACT: A long-term gluten-free diet (GFD) as a first-choice treatment for dermatitis herpetiformis (DH) has been used successfully. The aim of the present study is to evaluate the possibility of treating all severe skin manifestations of DH by a GFD only. Seventy-two patients with DH were subdivided in two groups: group A (18 patients) underwent a GFD and received dapsone; group B (54 patients) underwent a GFD. Patients were subdivided into slight, moderate and severe forms. A total of 88.9% of patients treated with dapsone and a GFD (group A) had remission of skin manifestations and the remaining 11.1% were improved. In group B, 87% of patients showed complete remission of skin manifestations after 18 months of a GFD; 13% showed improvement. With regard to severe forms, after an 18-month treatment, 70.4% of patients in group B; 66.6% in group A. Our study shows that a GFD, if administered steadily and for a long period, can be a valid treatment for severe forms of DH. Dapsone can be useful to control the inflammatory phase of the disease.
  Journal of Dermatological Treatment 02/2007; 18(1):10-2. · 1.23 Impact Factor
• Article: Dermoscopy for the diagnosis of porokeratosis.

  Mario Delfino, Giuseppe Argenziano, Massimiliano Nino
  Journal of the European Academy of Dermatology and Venereology 04/2004; 18(2):194-5. · 2.98 Impact Factor
• Article: Differential modulation of Ku70/80 DNA-binding activity in a patient with multiple basal cell carcinomas.

  Paola Mazzarelli, Carla Rabitti, Paola Parrella, Davide Seripa, Paolo Persichetti, Giovanni Francesco Marangi, Giuseppe Perrone, Maria Luana Poeta, Mario Delfino, Vito Michele Fazio
  [show abstract] [hide abstract]
  ABSTRACT: Ku70/80 nonhomologous end-joining activity is essential for resolving random DNA double-strand breaks, and the Ku70/80 protein complex has been proposed as "caretaker" of genomic stability. We studied the Ku70/80 heterodimer activity in a patient affected by multiple basal cell carcinomas with a personal history of moderate exposure to ionizing radiation. The Ku70/80 DNA-binding activity was analyzed, by electrophoretic mobility shift assay, in five tumor biopsies from different sites and at distinct clinical stages, and in three matched normal skin samples from the same patient. As control normal tissues from healthy individuals were also tested. The five basal cell carcinomas were classified as "non aggressive" and "aggressive" on the basis of morphologic parameters and expression of the molecular markers bcl-2, Ki67/MIB1, and p53. A 62% increase in the Ku70/80 DNA-binding activity was found in normal skin from the patient, compared to unexposed individuals (p<0.0001). The nuclear activity of the heterodimer was further increased in nonaggressive basal cell carcinomas compared to both matched normal skin from the patient (31%, p=0.0001) and tissues from healthy controls (73%, p=0.0001). Strikingly, the two aggressive basal cell carcinomas tested showed very low Ku70/80 DNA-binding activity with a reduction of 87% compared to normal skin from the patient (p<0.0001) and 64% compared to controls (p=0.001). Although these results are limited to only one patient, together with other recent studies they support the hypothesis that downregulation of the nonhomologous end-joining pathway may be associated with tumor progression.
  Journal of Investigative Dermatology 09/2003; 121(3):628-33. · 6.31 Impact Factor
• Article: Anasarca caused by Cryptococcus neoformans after heart transplantation.

  Daniela Molino, Luca Salvatore De Santo, Mario Delfino, Luigi Insabato, Franca Ferraraccio, Massimo Cirillo, Natale Gaspare De Santo
  [show abstract] [hide abstract]
  ABSTRACT: Cryptococcosis is an opportunistic infection caused by the yeast-like fungus Cryptococcus neoformans. The infection predominantly strikes patients with cell-mediated immunodeficiency, that is, patients with organ transplants, leukemia, lymphoma, AIDS, and those receiving steroids or immunosuppressants. We describe a patient with skin lesions and anasarca secondary to intestinal infection from Cryptococcus neoformans after heart transplantation. We based diagnosis on histologic examination of the cutaneous lesions and of the duodenal mucosa. This case demonstrates that in immunosuppressed patients with anasarca of unknown origin, a diagnosis of intestinal opportunistic infection also should be considered.
  The Journal of Heart and Lung Transplantation 05/2003; 22(4):478-83. · 4.33 Impact Factor
• Article: Guess what! Multiple pilomatricomas and Steiner disease.

  Emanuela Barberio, Massimiliano Nino, Valentina Dente, Mario Delfino
  [show abstract] [hide abstract]
  ABSTRACT: An 18-year-old male adolescent was referred to our department for the presence of multiple skin nodules since the age of 9 years. At the age of 22 months the patient was diagnosed as having myotonic dystrophy (Steinert's disease). So far, nine lesions like these have been excised and histologically analysed, two located on the left arm, one on the neck and one on the scalp. A skin examination revealed three nodular lesions, two localised on the scalp (Fig. 1) and one on the trunk (Fig. 2); the lesions ranged from 0.5 to 3.5 cm, and were hard on palpation and asymptomatic, with elevated, smooth and teleangiectatic borders and a central invagination filled with whitish, firm, granular material. The lesions were all excised. The histological examination of all the biopsy specimens revealed basophilic cells at the periphery, and islets of shadow cells with an unstained central area at the site of lost nucleus (Fig. 3). The shadow cells were surrounded by a granulomatous infiltration composed mainly of giant cells.
  European journal of dermatology: EJD 12(3):293-4. · 2.53 Impact Factor
• Article: Dermoscopy for the diagnosis of porokeratosis.

  Mario Delfino, Giuseppe Argenziano, Massimiliano Nino
  18(2):194-195.