The importance of suicide risk assessment in patients affected by neurofibromatosis.

OBJECTIVE: Neurofibromatosis 1 (NF1) is a chronic medical disease that often presents with psychiatric disorders. We investigated suicidal ideation in NF1 patients compared to healthy controls. We also evaluated whether hopelessness, depressive symptoms and perceived disability may mediate suicidal ideation in patients with NF1. METHODS: We enrolled 60 patients with NF1 and 50 healthy controls with no history of NF1. Patients underwent a full psychiatric evaluation. Psychiatric diagnosis was made according to Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) criteria. Patients and controls underwent a series of psychometric measures, namely the Columbia Suicide Severity Rating Scale, the Beck Hopelessness Scale, the Italian Perceived Disability Scale and the Beck Depression Inventory. RESULTS: Suicidal ideation was significantly higher in patients with NF1 (45%) than in controls (10%). Patients also presented more severe perceived disability and hopelessness and more frequent psychiatric disorders than controls. Multivariable logistic regression analysis showed that perceived disability was independently associated with the presence of suicidal ideation in patients with NF1. CONCLUSIONS: In conclusion, our results showed that suicidal ideation was present in almost half of patients with NF1, suggesting the importance of suicide assessment in these patients.Key pointsPatients with NF1 have an increased suicide ideation when compared to healthy controlsIncreased suicidal ideation correlates with perceived disability, but not with the presence of psychiatric disordersAssessment of suicidal ideation should be performed in patients with 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 Tattoo: An Important.

Dear Editor, Tattooing is a global and ancient practice that has endured until the present day. It was originally used to indicate religious beliefs, tribal affiliation, loyalty to a leader, or had a therapeutic function. Adverse reactions from tattooing are common, and cutaneous reactions to red pigment have been widely reported (1,2). Herein we report a case of a 30-year-old female patient admitted to our Department of Dermatology for a reaction to a tattoo localized at the violet and black areas of the tattoo on the upper part of her left leg. The patient reported that the tattoo had been made two years earlier, but the cutaneous alterations appeared after she decided to change the color from pink to violet. On physical examination, multiple erythematous nodular itching lesions were present at the areas of the tattoo in which the violet and black color were used (Figure 1). She had undergone antibiotic therapy without resolution after which topical corticosteroids were applied with temporary remission of signs and symptoms. Personal and familial medical history were negative. The patient reported a jewelry allergy that had never been investigated. Based on the suspicion of an allergic reaction we decided to execute a patch test SIDAPA series and patch test special tattoo series (copper sulfate 1% water, dimetilaminoazobenzene-p 1%, aminoazotoluene-o 1%, blue scattered 3 1%, blue scattered 124 1%, yellow scattered 3 1%, orange scattered 3 1%, red scattered 1 1%, gentian violet 2%, cadmium chloride 1% in water, nickel sulphate 5%, iron chloride 2% in water, potassium dichromate 0.5%, chromium trichloride 2%, aminoazobenzene-p 0.25%, cobalt chloride 1%, aluminum chloride 2%, titanium dioxide 0.1%, zinc 2.5%, mercury chloride 0.05% in water, kathon cg 0.01% in water, phenol 0.5%, ethylenediamine hydrochloride1%, phenylenediamine base-p 1%, formaldehyde 1% in water, phthalic anhydride 1%, rosin 20%, dibutyl phthalate 5%, hexamethylenetetramine 1%, benzophenone 5%). Both series of patch test showed positivity for nickel sulfate 5% at 48 hours (++) and 72 hours (+++). We then performed a 4 mm punch biopsy of the nodular lesions localized at the black and violet areas. The histological examination revealed dermal sclerosis characterized by inflammatory reaction with lympho-mononuclear infiltration in the perivasal zone. Macrophages with red and black pigment were present. The histological pattern was compatible with a granulomatous reaction. Tattooing can result in a wide variety of complications, whose prevalence and incidence still remain unclear. Some authors (3) classify such cutaneous complications in various ways, such as according to: - the length of their evolution: acute and chronic reactions; - the delay of onset after tattooing: early - during the healing phase - or delayed - after tattoo healing; - the type of reaction: infection, hypersensitivity reaction, etc. The practice of tattooing may have local or systemic complications. Dermatoses such as psoriasis, systemic erythematous lupus, sarcoidosis, lichen planus, and pseudo-epitheliomatous hyperplasia can be localized in the area of the tattoo, but allergic sensitivity to one of the pigments is the most frequent cause of dermatological reactions in the site of tattoo (4,5). In fact, adverse reactions to tattoo pigments, especially the red one, are well-described in literature. Furthermore, these compounds frequently contain components which are not systematically characterized. In our case, the granulomatous reaction did not correspond to an allergic reaction to the pigment. In fact, the patch test was negative for all pigments investigated, only showing a positive result for nickel sulfate. However, the specific and well-defined localization of the nodular lesions on the black and violet areas led us to hypothesize that the tattoo pigments in these areas contained some unknown component causing the reaction. In our opinion, a possible explanation could be that the new pigment that had been used contained a small amount of nickel sulfate, which caused the granulomatous reaction. In conclusion, we presented this clinical case to emphasize the widespread incidence of tattoo-related adverse effects, which are mostly caused by red pigment. Dermatologists should constantly strive familiarize themselves with current research on this practice and its complications. On the other hand, people with potential risk factors for adverse reactions should refer to a specialist before getting tattoos. Tattooists should use a checklist and informed consent to screen people with such potential risk factors. Furthermore, it is necessary to perform additional studies concerning ink and pigment components, with the aim of systemically characterizing the substances used in tattoos. Lastly, as emphasized by our case, patients at risk should referred to the dermatologist not only before getting a new tattoo but also in case of color changes in a pre-existing tattoo.

Ocular manifestations in Gorlin-Goltz syndrome.

BACKGROUND: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is caused in 85% of the cases with a known etiology by pathogenic variants in the PTCH1 gene, and is characterized by a wide range of developmental abnormalities and a predisposition to multiple neoplasms. The manifestations are multiple and systemic and consist of basal cell carcinomas in various regions, odontogenic keratocistic tumors and skeletal anomalies, to name the most frequent. Despite the scarce medical literature on the topic, ocular involvement in this syndrome is frequent and at the level of various ocular structures. Our study focuses on the visual apparatus and its annexes in subjects with this syndrome, in order to better understand how this syndrome affects the ocular system, and to evaluate with greater accuracy and precision the nature of these manifestations in this group of patients. RESULTS: Our study confirms the presence of the commonly cited ocular findings in the general literature regarding the syndrome [hypertelorism (45.5%), congenital cataract (18%), nystagmus (9%), colobomas (9%)] and highlights strabismus (63% of the patients), epiretinal membranes (36%) and myelinated optic nerve fiber layers (36%) as the most frequent ophthalmological findings in this group of patients. CONCLUSIONS: The presence of characteristic and frequent ocular signs in the Gorlin- Goltz syndrome could help with the diagnostic process in subjects suspected of having the syndrome who do not yet have a diagnosis. The ophthalmologist has a role as part of a multidisciplinary team in managing these patients. The ophthalmological follow-up that these patients require, can allow, if necessary, a timely therapy that could improve the visual prognosis of such patients.

Linear cutaneous hypopigmentation and atrophy associated with intralesional steroid injection: A rarely described adverse reaction.

Intralesional steroid injection is a common and highly effective treatment procedure, which can be successfully used for several dermatologic, rheumatologic, and orthopedic disorders. However, it may be associated with various local side effects, such as pain, granulomatous reaction, allergic reactions, hypo or hyperpigmentation and, uncommonly, skin atrophy. A peculiar and rare side effect of steroid injection is linear hypopigmentation and atrophy, which is probably an expression of lymphatic spread of corticosteroid crystals. Here, we report a case of linear hypopigmentation and atrophy in a 26-year-old male patient.

Retinal microvascular abnormalities in neurofibromatosis type 1.

PURPOSE: The aim of this study was to provide a classification of the different retinal vascular arrangements in neurofibromatosis 1 (NF1), with appropriate qualitative and quantitative information. METHODS: This study was conducted on 334 consecutive patients with NF1 and 106 sex-matched and age-matched healthy control subjects. Each patient underwent a comprehensive ophthalmological examination inclusive of near-infrared reflectance retinography by using the spectral domain Optical coherence tomography (OCT), a complete dermatological examination and 1.5 T MRI scan of the brain to assess the presence of optic nerve gliomas. To evaluate the predictability and the diagnostic accuracy of our identified retinal microvascular arrangements, we calculated the diagnostic indicators for each pattern of pathology, with corresponding 95% CI. In addition, we evaluated the association between the microvascular arrangements and each National Institutes of Health diagnostic criteria. RESULTS: Microvascular abnormalities were detected in 105 of 334 NF1 patients (31.4%), the simple vascular tortuosity was recognised in 78 of 105 cases (74.3%) and whether the corkscrew pattern and the moyamoya-like type showed a frequency of 42.8% (45 of 105 cases) and 15.2% (16 of 105 cases), respectively. We found a statistically significant correlation between the presence of retinal microvascular abnormalities and the patient age (p=0.02) and between the simple vascular tortuosity, the patient age and the presence of neurofibromas (p=0.002 and p=0.05, respectively). CONCLUSIONS: We identified microvascular alterations in 31.4% of patients and a statistically significant association with patient age. Moreover, the most frequent type of microvascular alterations, the simple vascular tortuosity, resulted positively associated with age and with the presence of neurofibromas.

Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1.

PURPOSE: Only a few reports in the literature have investigated the presence of ocular abnormalities in neurofibromatosis type 1 (NF-1) patients. The aim of this study was to evaluate the prevalence of ocular abnormalities in a large population of NF1 patients, focusing on the choroidal changes. METHODS: This study was conducted on 160 consecutive patients with NF1 and 106 sex- and age-matched healthy subjects (control). Each patient underwent a complete ophthalmological examination inclusive of best-corrected visual acuity, intraocular pressure measurement, slit-lamp biomicroscopy, indirect fundus biomicroscopy, and near-infrared reflectance (NIR) retinography by using the spectral domain OCT. Moreover, all patients underwent complete dermatological exam and 1.5-Tesla MRI scan of the brain to assess the presence of optic nerve gliomas. RESULTS: Choroidal abnormalities were detected in 97% of patients, with a positive predictive value of 100% and a negative predictive value of 96.4%. Interestingly, a small number of patients (4/160; 2.5%) showed Lisch nodules without choroidal abnormalities, whereas a larger number of patents (22/160; 13.75%) presented choroidal lesions in absence of Lisch nodules. None of the patients showed the absence of both choroidal lesions and Lisch nodules. The number of choroidal lesions increased with age (r = 0.364, p = 0.0001) and with the severity of pathology (r = 0.23, p = 0.003). Any statistically significant correlation between choroidal lesions, visual acuity, and intraocular pressure was observed. CONCLUSIONS: NIR imaging represents an in vivo, non-invasive, sensitive and reproducible exam to detect choroidal nodules in NF-1 patients, suggesting that choroidal changes may represent an additional diagnostic criteria for NF1.