Search results for "Dermatosi"
showing 10 items of 23 documents
Apoptosis and apoptotic pathway in actinic prurigo by immunohistochemistry
2015
Background Actinic prurigo (AP) is an idiopathic photodermatosis, this entity requires exposure to UV-B and -A to develop lesions. Apoptosis is a physiological death program that can be initiated by a permanently active mechanism (extrinsic pathway) or irreparable damage (intrinsic pathway). Material and Methods Descriptive study, the sample size comprised 64 paraffin blocks of tissue with a diagnosis of AP. In H&E-stained slides, the diagnosis of AP was corroborated, and 1-µm-thick sections were processed for immunohistochemistry (IHC). A database was constructed with SPSS version 20, Inc., Chicago, IL, USA, and descriptive statistics were analyzed by X2 test and comparison of means. Resul…
Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke‐Ollendorff syndrome
2020
Buschke-Ollendorff syndrome (BOS) is a rare autosomal dominant genodermatosis caused by heterozygous mutations in LEMD3 and characterized by connective tissue nevi and sclerotic bone lesions known as osteopoikilosis. We report a family with three individuals affected by BOS, two of whom manifested clinical and histopathological peculiarities, presenting with a depressed indurated plaque as the main cutaneous manifestation instead of the classic connective tissue nevi. Notable elastorrhexis was present in both biopsies.
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
2014
SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. We identified a homozygous variant in SASH1 (c.1849…
A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily
2005
Summary Background Lipoid proteinosis (LP), also known as Urbach–Wiethe disease, is a rare autosomal recessive disorder characterized by a hoarse voice, warty skin infiltration and scarring. Mutations within the extracellular matrix protein 1 (ECM1) gene cause LP. Objectives We report the molecular analysis of the ECM1 gene in a Sicilian patient with LP in order to extend the mutation spectrum of this genodermatosis. Methods We studied a 32-year-old female born from consanguineous parents who was diagnosed at the age of 11 years as having LP. She has a clinical phenotype corresponding to Urbach–Wiethe disease characterized by papules/nodules, indurated plaques and sometimes ulcerated les…
Cemiplimab for locally advanced and metastatic cutaneous squamous-cell carcinomas: Real-life experience from the French CAREPI study group
2021
Although cemiplimab has been approved for locally advanced (la) and metastatic (m) cutaneous squamous-cell carcinomas (CSCCs), its real-life value has not yet been demonstrated. An early-access program enrolled patients with la/mCSCCs to receive cemiplimab. Endpoints were best overall response rate (BOR), progression-free survival (PFS), overall survival (OS), duration of response (DOR) and safety. The 245 patients (mean age 77 years, 73% male, 49% prior systemic treatment, 24% immunocompromised, 27% Eastern Cooperative Oncology Group performance status (PS) ≥ 2) had laCSCCs (35%) or mCSCCs (65%). For the 240 recipients of ≥1 infusion(s), the BOR was 50.4% (complete, 21%
Bericht �ber eine solit�re tuber�se Myxodermie des linken Handr�ckens
1963
Beschreibung einer lediglich im linken Handruckenbereich lokalisierten knotig-plattenartigen Myxodermie unter eingehender Demonstration und pathogenetischer Erorterung von — der mucoiden Infiltration benachbarten — obliterierenden endarteriitischen Gefasveranderungen, die auserdem durch eine Elastica-Hyperplasie ausgezeichnet sind.
Kystes trichilemmaux ossifiants multiples du cuir chevelu : un cas familial
2012
Resume Introduction Le kyste trichilemmal, egalement appele kyste pilaire, est un kyste epithelial dermique developpe aux depens du follicule pileux. Le cuir chevelu est la localisation la plus frequente de cette lesion. Les cas ossifiant et familiaux sont rares. Observation Nous rapportons un cas de kystes trichilemmaux multiples du cuir chevelu, decouverts chez femme de 61 ans ayant des antecedents familiaux. Le diagnostic a ete confirme par l’histologie de la piece operatoire. Les kystes trichilemmaux se caracterisaient par remaniements intrakystiques, sous forme d’ossification. L’etendue des lesions a necessite une exerese chirurgicale elargie du cuir chevelu. La reconstruction a ete fa…
Patologia Cutanea HCV correlata
2005
Questo review sintetizza le ormai ben note associazioni tra virus dell’epatite C (HCV) ed alcune dermatosi. Data l’opportunità di un valido trattamento per le infezioni da HCV, spesso asintomatiche, il medico deve tenere sempre presente che particolari manifestazioni cutanee possono essere la spia di infezioni da virus dell’epatite C fino a quel momento non diagnosticate e pertanto, ove necessario, procedere all’esecuzione di appropriati test di screening.
Ketoprofen photodermatosis
2013
Background and aim of the study: The aim of the following review is that of stimulating and highlighting the importance of pharmacovigilance, examining all the data about ketaprofen (a well known NSAD) photodermatosis cases reported in literature, especially those occurred in patients under topical therapy that have been revealed to be adverse reactions. Materials and methods: Analysed data concern studies carried out from 1991 to 2011 among different European countries, in particular at the Swedish University of Lund, Katholieke University of Leuven in Belgium, and in France. All the data arrived through the Italian national pharmacovigilance network. Results: Evidences show that the basic…