Search results for " Venere"

A recurrent TP63 mutation causing EEC3 and Rapp–Hodgkin syndromes

2016

The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with the previously reported c.1028G>A (p.Arg343Gln) mutation in exon 8 of TP63. The mother lacked ectrodactyly, indicating a diagnosis of RHS, whereas the girl presented with all three major features (ectrodactyly, ectodermal dysplasia, clefting) and different minor features (including small and brittle nails, and recurrent conjunctivitis believed to be because of stenotic and blo…

Prolidase deficiency in two dermatological patients in western Sicily

2020

Prolidase deficiency is a rare disorder inherited through an autosomal recessive gene. The hallmark of the disorder are iminodipeptiduria, chronic skin ulcers, recurring infections, mental retardation and characteristic facial appearance, although prolidase deficiency can occur with no clinical manifestation. The primary biological function of the enzyme involves the metabolism of collagen degradation products and the recycling of proline for collagen resynthesis. We describe two patients with prolidase deficiency and review the different clinical manifestations suggesting the pathogenetic mechanism through few hypotheses.

Chromated metal products may be hazardous to patients with chromate allergy.

2009

Background:  Hidden allergen exposure may contribute to persistence and relapse of chromate dermatitis. According to case reports, chromated metal products, such as screws, fittings, etc., may be relevant allergen sources for patients sensitized to chromate. Objectives:  To examine concomitant patch test reactivity to potassium dichromate 0.5% petrolatum (pet.) and three different types of chromated metal rings. Patients/Methods:  Patients with proven or suspected chromate allergy were patch tested with potassium dichromate 0.5% pet. and three different types of chromated metal rings (yellow, olive, and black). Hexavalent chromium Cr(VI) release from the patch tested rings was chemically an…

Dermoscopy of cutaneous smooth muscle neoplasms: a morphological study of 136 cases

2019

BACKGROUND: A variety of cutaneous smooth muscle neoplasms may arise in the skin and are frequently unrecognized by clinicians. There is sparse data relating to the dermoscopy of piloleiomyomas (PL), and nothing has been published about the dermoscopy of angioleiomyomas (AL) and leiomyosarcomas (LS). OBJECTIVES: To evaluate the morphological findings of a large series of cutaneous PL, AL and LS under dermoscopic observation, comparing these findings among them. METHODS: Digital dermoscopic images of 136 histopathologically confirmed cases of cutaneous smooth muscle neoplasms (114 PL, 13 AL and 9 LS) collected from 10 Hospitals in Spain, Austria and Italy were evaluated for the presence of d…

Dermatitis due to Mesostigmatic mites (Dermanyssus gallinae, Ornithonyssus [O.] bacoti, O. bursa, O. sylviarum ) in residential settings

2018

No abstract available (letter to the Editor)

Lack of TERT promoter mutations in melanomas with extensive regression

2015

Enteric-coated mycophenolate sodium in the treatment of refractory pemphigus.

2010

BACKGROUND: One of the major goals of pemphigus therapy is to reduce the patient's cumulative exposure to systemic corticosteroids. To investigate the efficacy of enteric-coated mycophenolate sodium (EC-MPS), 10 patients with active, refractory pemphigus vulgaris (PV) or foliaceous (PF) were treated with EC-MPS (1440 mg daily) and prednisone (75 mg daily) over 18 months. OBSERVATIONS: Following EC-MPS/prednisone therapy, disease progression was inhibited between days 30 and 45 in 9/10 patients (8 PV; 1 PF). At 18 months, 8/9 PV patients had clinically quiescent disease; EC-MPS therapy was no longer required in two patients as a result of disease remission. The remaining PV patient showed no…

Unusual clinical variants of cutaneous leishmaniasis in Sicily

2009

Background  The term “leishmaniasis” defines a group of vector-borne diseases caused by species of the genus Leishmania and characterized by a spectrum of clinical manifestations. Parasite properties (infectivity, pathogenicity, virulence), host factors, and host responses regulate heterogeneous disease expression. Sicily is one of the major islands of the Mediterranean Basin and is considered to be a hypo-endemic area for cutaneous leishmaniasis. Leishmania infantum is the most common species on the island. Methods  Fifty patients (both sexes and different ages) with lesions clinically suggestive of cutaneous leishmaniasis were recorded over a 1-year period. The diagnosis was based on posi…

Prospective study of the 532 nm laser (KTP) versus diode laser 980 nm in the resection of hyperplastic lesions of the oral cavity

2018

Background The aim of this study is to evaluate the resection of hyperplastic lesions on the buccal mucosa comparing the 532nm laser (KTP), versus diode 980nm laser, considering pain, scarring, inflammation and drug consumption that occurred postoperatively with each lasers. Material and Methods A prospective study of consecutive series of 20 patients in two groups that presents hyperplastic lesions on the buccal mucosa. The choice of the KTP laser or diode 980nm laser for the surgery was made randomly. The power used was 1.5W in both groups in a continuous wave mode with a 320 μm optical fiber. Parameters of pain, scarring, inflammation and consumption of drugs were recorded by a Numerical…

Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes

2019

BACKGROUND Hereditary angioedema (HAE) is a group of genetic diseases characterized by recurrent, painful and potentially lethal tissue swelling. The most common form results from mutations in the SERPING1 gene, leading to reduced function of complement 1 inhibitor (C1-INH). Rarer forms with normal C1-INH may arise from mutations in the coagulation factor F12 gene, but mostly the genetic background is unknown. Recently, a novel HAE mutation in the plasminogen (PLG) gene was shown. PATIENTS AND METHODS We analyzed the various clinical manifestations of HAE in 14 related patients using clinical data, biochemical analysis for C1-INH and C4 as well as gene sequencing. RESULTS Patients' symptoms…