Gorlin-Goltz syndrome: clinical findings in a Italian population

Gorlin-Goltz syndrome or Nevoid basal cell carcinoma syndrome (NBCCS) is a rare inherited autosomal dominant genodermatosis, with nearly complete penetrance but variable expression. NBCCS results from mutations in the Patched 1 (PTCH1) gene (40%–88% of NBCCS cases with higher estimates closer to 90% in more recent studies). Recently, mutations in suppressor of fused gene (SUFU) and PTCH2 have been found in patients with NBCCS. The estimated prevalence of the disease ranges between 1/57.000 and 1/256.000, with a male-to-female ratio of 1:1. The clinical features arise in the first, second, or third decades of life.1,2 This syndrome includes a wide spectrum of defects encompassing the skin, eyes, central nervous and endocrine system, and bones. Diagnosis is based on fulfilment of: two major diagnostic criteria and one minor diagnostic criterion or one major and three minor diagnostic criteria. Identification of a heterozygous germline PTCH1 or SUFU pathogenic variant on molecular genetic testing establishes the diagnosis if clinical features are inconclusive.3 In this study we sought to investigate clinical aspects in Italian patients with NBCCS. We reviewed all clinical charts of 40 NBCCS patients followed by February 1983 to February 2020 at the “Sapienza” University of Rome, Italy. All patients were investigated in a similar way with periodic evaluations that included dermatological, dental, ophthalmologic, gynecological and cardiological evaluation. Clinical examination included oral inspection, measurement of head circumference and interpupillary distance, examination of the skin for basal cell carcinomas (BCCs), and pits on the palms and soles. Radiographs of the chest, skull, spine, hands, pelvic (female) and teeth panorex were take

Lisch nodules in Schwannomatosis: a new manifestation

Schwannomatosis is a syndrome characterized by presence of schwannomas in the absence of bilateral vestibular schwannomas and meningiomas. Schwannomas interest frequently peripheral nerves (90%) and spinal nerves (75%). Schwannomatosis are generally sporadic; in 15 - 25% are familiar. The genes involved are SMARCB1 (40-50% of familial) and LZTR1. The reported phenotype continues to expand and evolve. We report the case of a patient with Schwannomatosis and Lisch nodules, typical manifestation of NF1

Neurofibromatosis type 1: ocular electrophysiological and perimetric anomalies

Introduction: Neurofibromatosis type 1 (NF1) is a multisystemic disease caused by the mutation of Nf1 gene located on chromosome 17q11.2. The mutation determines the loss of function of the protein neurofibromin with consequent uncontrolled cellular proliferation. Patients are characterized by a wide range of dermatological, neurological, and ophthalmological symptoms. Purpose: The aim of the study was to evaluate, through pattern visual evoked potentials (p-VEPs) and frequency doubling technology (FDT) Matrix perimetry, the objective and psychophysical functionality of the optic pathways in a group of NF1 patient. Methods: The study group consisted of 26 patients affected by NF1 and 17 healthy controls. Each patient underwent a complete ophthalmological examination, p-VEPs with the evaluation of amplitude and latency of the P100 wave, and FDT perimetry, with the evaluation of central sensitivity (CS), mean deviation (MD), pattern standard deviation (PSD) and glaucoma hemifield test (GHT). Results: NF1 patients showed a statistically significant alteration in the transmission of visual impulse. P-VEPs results highlighted a reduced amplitude and an increased latency of the P100 wave, suggesting an involvement of the visual pathway. Visual field analysis showed a significant reduction in all the observed parameters as well (CS, MD, PSD, and GHT). Conclusion: The present study showed, in NF1 patients, a qualitative and quantitative alteration in the conduction of stimuli through the visual pathways. The observed alterations are present, although, only at a subclinical level. None of the patients included in the study showed any manifest visual deficit nor had any concomitant pathology that might have affected the outcome of the study. In conclusion, electrophysiological exams and computer perimetry may take part, alongside a wider array of exams, in the differential diagnosis and later monitoring of NF1

Tridimensional matryoshka tatoo: An important adverse reaction

No abstract availabl

Nevus anemicus in neurofibromatosis type 1

Neurofibromatosis type 1 (NF-1), or von Recklinghausen’s disease, is an autosomal dominant condition with an incidence of 1:3000 and a prevalence of 1:4000 to 1:5000. It is caused by a decrease in the production of the neurofibromin protein due to mutations in the NF1 gene, located on the long arm of chromosome 17 (17q11.2), resulting in a lack of control of cell growth and divisio

Numerical investigation on the effects of non-structural components on the elastic fundamental period of buildings

In this work a parametric study has been performed in order to evaluate the elastic fundamental period of vibration of buildings as function of structural morphology (height, plan area, ratio between plan dimensions) and infills distribution. Recent earthquakes highlighted the significant effects derived from the interaction between structural and non-structural elements on the main dynamic parameters of a structure and the lateral distribution of the inertial forces. Usually, non-structural elements acts together with the structural elements, adding both masses and stiffness. The presence of infill elements is generally not taken into account in the design process of structural elements, although these elements can significantly increase the lateral stiffness of a building leading to a modification in dynamic properties. Particularly, at the Damage Limit State (where an elastic behaviour is expected), soil-structure interaction effects and non-structural elements may further affect the elastic natural period of buildings, changing the spectral accelerations compared with those provided by seismic codes in case of static analyses. Using a numerical campaign, the effects of these parameters on the elastic dynamic behaviour of buildings have been studied taking into account presence and distribution of non-structural elements

Damage Detection and Localization on Real Structures Subjected to Strong Motion Earthquakes Using the Curvature Evolution Method: The Navelli (Italy) Case Study

In recent years, structural health monitoring (SHM) has received increasing interest from both research and professional engineering communities. This is due to the limitations related to the use of traditional methods based on visual inspection for a rapid and effective assessment of structures and infrastructures when compared with the great potential offered by newly developed automatic systems. Most of these kinds of systems allow the continuous estimation of structural modal properties that are strictly correlated to the mechanical characteristics of the monitored structure. These can change as a result of material deterioration and structural damage related to earthquake shaking. Furthermore, a suitable configuration of a dense sensor network in a real-time monitoring system can allow to detect and localize structural and non-structural damage by comparing the initial and a final state of the structure after a critical event, such as a relevant earthquake. In this paper, the modal curvature evaluation method, used for damage detection and localization on framed structures, considering the mode curvature variation due to strong earthquake shaking, is further developed. The modified approach is validated by numerical and experimental case studies. The extended procedure, named “Curvature Evolution Method” (CEM), reduces the required computing time and the uncertainties in the results. Furthermore, in this work, an empirical relationship between curvature variation and damage index has been defined for both bare and infilled frames