A Case of Iatrogenic Cutaneous Lipomatosis

Letter to the editor No abstract available</p

Skin toxicity after radiotherapy. About a case

A 60-year-old woman was admitted to the Department complaining of a slow growing mass in the right knee. Physical examination demonstrated a mass on the postero-lateral aspect of the right knee, which was not tender or mobile, however was rubbery and hard in consistency. Full flexion and extension was observed without any restriction of joint movement

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

Chromosome 16p11.2 deletions: another piece in the genetic puzzle of childhood obesity

Ipercaloric diet and reduced physical activity have driven the rise in the prevalence of childhood obesity over a relatively short time interval. Family and twin studies have led to the conclusion that the strong predicitve value of parental body mass index (BMI) mainly stems from genetic rather than environmental factors. Whereas the common polygenic obesity arises when an individual genetic make-up is susceptible to an environment that promotes energy consumption over energy expenditure, monogenic obesity, on the contrary, is the obesity associated with a single gene mutation, which is sufficient by itself to cause weight gain in a food abundant context. Genes involved in the leptin-melanocortin pathway are often mutated in these cases. The cumulative prevalence of monogenic obesity among children with severe obesity is about 5%

An unusual skin manifestation in a patient with Peutz Jeghers Syndrome

No abstract</p

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

Electrophysiological study of visual pathways in nevoid basal cell carcinoma syndrome patients

Introduction: Gorlin-Goltz syndrome (GGS) also known as nevoid basal cell carcinoma syndrome (NBCCS) is a complex rare genetic disorder characterized by a wide range of clinical and radiological manifestations. Ophthalmological alterations have always been reported, but no study on the eventual pattern visual evoked potentials (pVEPs) abnormalities has yet been published.Purpose: The purpose of the study was to evaluate the functionality of the optic pathways in a group of NBCCS patients through pattern reversal VEPs, after a thorough exclusion of subjects with preexisting ocular and optic pathways pathologies.Methods: Nineteen NBCCS patients (31 eyes) and 20 healthy controls (40 eyes) have been recruited for this study. All subjects underwent an evaluation of the functionality of the optic pathways through pVEPs with small (120'), medium (60'), and large (15') check size stimulation.Results: NBCCS patients showed a statistically significant alteration in the transmission of the macular pathway function when compared to controls. PVEPs analysis confirmed a reduced amplitude and an increased latency of the P100 component, suggesting an involvement of the visual pathway even in the absence of ocular clinical manifestations.Conclusion: Visual pathways may have been affected both by a subclinical myelination deficit, determined directly by the genetic alteration, as well as by neurological abnormalities typical of this syndrome. Further studies are warranted

Effect of the melanocortin-3 receptor C17A and G241A variants on weight loss in childhood obesity

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Electrochemotherapy: a Valid Treatment for Gorlin Goltz syndrome

Gorlin-Goltz syndrome is a rare disorder, characterized by systemic manifestations included multiple basal cell carcinomas, palmar or plantar pits, odontogenic keratocysts and ectopic calcifications of the falx cerebri. The therapy of the clinical manifestations of Gorlin-Goltz syndrome is not simple treatment. We performed  electrochemotherapy in a patient affected by Gorlin-Goltz syndrome with an extensive and  unresectable basal cell carcinoma on the scalp, obtaining excellent results.</p