Emanuele Miraglia

Preventive Long-Term Effects of a Topical Film-Forming Medical Device with Ultra-High UV Protection Filters and DNA Repair Enzyme in Xeroderma Pigmentosum: A Retrospective Study of Eight Cases

Skin cancer is common in xeroderma pigmentosum (XP) due to a DNA repair mechanisms genetic defect. Ultraviolet (UV) exposure is the main cause of increased incidence of actinic keratosis (AK), basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) observed in XP subjects. Photoprotection is therefore a mandatory strategy in order to reduce skin damage. A topical DNA repair enzyme has been shown to slow down the development of skin lesions in XP. However, there are no data regarding the effects of photoprotection combined with DNA repair strategies in this clinical setting. A film-forming medical device containing the DNA repair enzyme photolyase and very high-protection UV filters (Eryfotona AK-NMSC, Ery) is currently available. We report retrospective data regarding the use of Ery in 8 patients (5 women, 3 men) with a diagnosis of XP treated for at least 12 consecutive months, comparing the rate of new skin lesions (AK, BCC and SCC) during active treatment with Ery and during 12 months just before the use of the product. New AK, BCC and SCC mean lesion numbers during the 1-year Ery treatment were 5, 3 and 0, respectively in comparison with 14, 6.8 and 3 lesions, respectively during the 1-year pre-treatment period. Ery use was associated with a 65% reduction in appearance of new AK lesions and with 56 and 100% reductions in the incidence of new BCC and SCC lesions, respectively. These data suggest that topical use of photoprotection and DNA repair enzyme could help lower skin cancer lesions in XP. Control prospective trials are advisable in this clinical setting.

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

PurposeOnly 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.MethodsThis 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.ResultsChoroidal 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.ConclusionsNIR 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.

Chiari type 1 malformation in Neurofibromatosis type 1: experience of a center and review of the literature.

OBJECTIVE To evaluate the possible correlation and the true incidence between Neurofibromatosis type 1 and Arnold-Chiari malformation type I. MATERIALS AND METHODS We reviewed all clinical charts, neurological consultations and MRI scans of 428 NF1 patients followed by 1994 to 2014 in our Department. NF1 patients in our clinic are seen usually every year by both the dermatologist and the neurologist. All patients also undergo a brain and spinal cord with the same 1.5 Tesla MRI scan. RESULTS We found a diagnosis of Arnold Chiari malformation type I in 9 of the 428 NF1 cases (2%). CONCLUSION This frequency is higher than that expected on the basis of a chance association. Therefore we underline the importance of serial MRI studies in patients with NF1 to assess the presence of cranio-cervical anomalies. Future studies should try to better understand what are the pathogenetic mechanisms underlying this close association.

SD-OCT in NIR modality to diagnose retinal microvascular abnormalities in neurofibromatosis type 1

Dear Editor, Neurofibromatosis type I (NF1), also known as Von Recklinghausen’s disease, is one of the most common autosomal dominant genetic disorders with an average prevalence of 1:4000 and an estimated incidence of 1:3000 [1]. The diagnosis of NF1 is based on the clinical criteria recommended by the NIH Consensus Conference which include multiple café-au-lait spots (CLS), cutaneous or subcutaneous neurofibromas, plexiform neuromas, axillary or inguinal freckling, optic gliomas, distinctive osseous lesion, and iris Lisch nodules [1]. Lisch nodules represent the most common ocular feature of NF-1. Further ocular manifestations include optic gliomas, orbital and eyelid neurofibromas, eyelid café-au-lait spots, choroidal nevi, congenital absence of the greater wing of the sphenoid bone, congenital glaucoma, and choroidal abnormalities [1]. There are only a few reports in the literature that analyze the presence of ocular abnormalities in NF-1 patients. The aim of this study was to evaluate the prevalence of retinal abnormalities in a large sample of consecutive patients with NF1. This study was conducted on 224 consecutive patients (123 females and 101 males, mean age 38.5 ± 20.5 years, range 5– 69 years) with NF1. Each patient underwent a comprehensive ophthalmological examination inclusive of best-corrected visual acuity, intraocular pressure measurement, slit-lamp biomicroscopy, indirect fundus biomicroscopy, and spectral domain OCT superimposed to near-infrared fundus images (NIR). All patients underwent 1.5 Tesla MRI scan of the brain to assess the presence of optic nerve gliomas. Of the 224 patients, 84 patients (37.5%) had microvascular abnormalities within 30° angle of the fovea on NIR. Retinal vascular abnormalities were bilateral in 18 cases. Fifty-seven (25.5%) patients had a single type of lesions; 22 patients (12%) had two different types; and 5 patients (2.3%) presented three different patterns of retinal microvascular abnormalities. We identified three different vascular patterns based on their appearance: (i) the simple tortuosity; (ii) the more complex corkscrew; and iii) the moya moya-like configurations (Fig. 1). In the Bcorkscrew^ pattern, we identified a spiral attitude of vessels, while the moya moya-like configuration was characterized by tortuous vessels that end in a Bpuff of smoke^ arrangement that resembles the collateral circulation seen in moya moya syndrome. Of 224 patients, 57 subjects (25.5%) presented at least the simple vascular tortuosity and 42 (18.7%) the corkscrew pattern while 17 (7.5%) the moya moya-like type. These lesions were predominantly unilateral and not associated with visual function changes. Retinal microvascular abnormalities are not detectable at indirect ophthalmoscopy exam due to their very small caliber, while they can be easily identified with spectral domain OCTNIR fundus images. To our knowledge, there are only few studies that have described these abnormalities in small series of patients with NF1.In a study involving 32 patients with NF1, retinal microvascular abnormalities were present in the 37.5% of the patients [2]. Abdolrahimzadeh et al. found microvascular abnormalities in 35% of 17 patients [3]. Karadimas and Asensio-Sánchez reported corkscrew retinal vessels in a single patient with NF1 [4, 5]. They were predominantly unilateral, typically benign, and were not associated with visual alteration. A recent paper of Parrozzani et al. reported a prevalence of retinal vascular abnormalities in 6.1% of patients with NF1 detected by infrared confocal scanning laser ophthalmoscopy images [6]. The Authors highlight that * Marta Sacchetti marta.sacchetti@uniroma1.it

Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia.

Ectodermal dysplasia is a clinically and genetically heterogeneous group of inherited disorders characterized by abnormal development of two or more of the following ectodermal‐derived structures: hair, teeth, nails and sweat glands. The hair is the most frequently affected structure. Hair shaft abnormalities are of great concern to these patients, but no effective treatments are available.