Introduction: Neurofibromatosis type 1 (NF1) is a multisystemic disease caused by the mutation of gene located on chromosome 17q11.2. The mutation determines the loss of function of the protein neurofibromin with consequent uncontrolled cellular proliferation.
View Article and Find Full Text PDFWe report the cases of two women affected by lichen sclerosus also having clinical signs of hidradenitis suppurativa. Lichen sclerosus is a chronic autoimmune disease, in which activated fibroblasts produce significantly altered collagen leading to fibrosis Hidradenitis suppurativa is a chronic relapsing inflammatory disease affecting folliculopilosebaceous unit and apocrine gland, which lesions are nodules and abscesses. The association between lichen sclerosus and autoimmune disorders is well known, but not the one with hidradenitis suppurativa.
View Article and Find Full Text PDFDear 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).
View Article and Find Full Text PDFOrphanet J Rare Dis
September 2019
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.
View Article and Find Full Text PDFIntralesional 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.
View Article and Find Full Text PDFLichen sclerosus et atrophicus (LSA) is a chronic inflammatory skin disease of unknown etiology. It mainly affects the anogenital area, while the extragenital involvement is uncommon. It manifests as pale, ivory-colored lesions and partially atrophic skin.
View Article and Find Full Text PDFPurpose: 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.
Graefes Arch Clin Exp Ophthalmol
February 2018
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).