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1.
Dermatology ; 234(5-6): 166-172, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30205372

RESUMO

BACKGROUND: The prevalence of narrow-band ultraviolet B (NB-UVB) use in Europe for moderate and severe psoriasis is unknown, because national registries for psoriasis do not monitor this treatment. OBJECTIVES: To quantify the use of phototherapy, biologics or conventional treatments in psoriasis, in a setting where European Medicines Agency (EMA) eligibility criteria for biologics were strictly applied, and phototherapy was included among first-line treatments. METHODS: We followed a cohort of 1,090 patients who were referred to the only centre entitled to prescribe biologics and phototherapy during a 5-year period. RESULTS: The cumulative number of treatment cycles was: 1,047 with NB-UVB phototherapy, 650 with systemic treatments and 239 with biologics; 754 patients received at least 1 course of NB-UVB phototherapy, 422 at least 1 course with a systemic treatment and 137 with a biologic; 595 patients were treated only with phototherapy. CONCLUSIONS: Regular use of NB-UVB as first-line treatment for moderate and severe psoriasis and adherence to the EMA eligibility criteria for biologics led to a relatively restricted use of biologics.


Assuntos
Produtos Biológicos/uso terapêutico , Fármacos Dermatológicos/uso terapêutico , Psoríase/tratamento farmacológico , Psoríase/radioterapia , Terapia Ultravioleta/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Europa (Continente) , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Adulto Jovem
2.
Am J Med Genet A ; 173(2): 524-530, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28102596

RESUMO

Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non-glycine residue in one Gly-Xaa-Yaa repeat of the pro-α1(I)-chain p.(Arg312Cys), which leads to disturbed collagen fibrillogenesis due to delayed removal of the type I procollagen N-propeptide. This specific mutation has been associated with propensity to arterial rupture in early adulthood; indeed, in literature the individuals harboring this mutation are also referred to as "(classic) vascular-like" EDS patients. Herein, we describe a three-generation cEDS family with six adults carrying the p.(Arg312Cys) substitution, which show a variable and prevalent cutaneous involvement without any major vascular event. These data, together with those available in literature, suggest that vascular events are not a diagnostic handle to differentiate patients with the p.(Arg312Cys) COL1A1 mutation from those with COL5A1 and COL5A2 defects, and highlight that during the diagnostic process the presence of at least the p.(Arg312Cys) substitution in COL1A1 should be investigated in cEDS patients without type V collagen mutations. Nevertheless, for these patients, as well as for those affected with cEDS, a periodical vascular surveillance should be carried out together with cardiovascular risk factors monitoring. © 2016 Wiley Periodicals, Inc.


Assuntos
Alelos , Colágeno Tipo I/genética , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Mutação , Fenótipo , Adolescente , Adulto , Substituição de Aminoácidos , Códon , Cadeia alfa 1 do Colágeno Tipo I , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Adulto Jovem
3.
Photodermatol Photoimmunol Photomed ; 32(1): 22-7, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26408963

RESUMO

BACKGROUND: The effects on the inflammatory and tanning responses of sunlight/UVR of several oral antioxidants are still unknown. OBJECTIVE: Assess intensity, time course of the inflammatory, and tanning responses to increasing dosages of solar-simulated radiation (SSR) at baseline and after oral supplementation of an extract of Polypodium leucotomos (PLE). METHODS: Ten healthy subjects underwent phototesting with SSR with a visual and spectrophotometrical assessment of the responses with or without daily oral supplementation of two tablets containing 240 mg of PLE for a total of 15 days. RESULTS: Polypodium leucotomos supplementation induced a significant increase of the minimal erythema dose (MED), a faster recovery of the inflammation following the delivery of super-erythemal doses, and no significant changes of the minimal melanogenic dose (MMD). Spectrophotometric assessment of the Δa* in test areas exposed to equally doses of SSR did not show differences. CONCLUSIONS: Polypodium leucotomos supplementation increased the MED and induced a faster recovery of the inflammation and a stronger tanning response with no changes in the melanogenic threshold.

4.
Am J Med Genet C Semin Med Genet ; 169C(1): 43-53, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25655071

RESUMO

Cutaneous manifestations are a diagnostic criterion of Ehlers-Danlos syndrome, hypermobility type (EDS-HT) and joint hypermobility syndrome (JHS). These two conditions, originally considered different disorders, are now accepted as clinically indistinguishable and often segregate as a single-familial trait. EDS-HT and JHS are still exclusion diagnoses not supported by any specific laboratory test. Accuracy of clinical diagnosis is, therefore, crucial for appropriate patients' classification and management, but it is actually hampered by the low consistency of many applied criteria including the cutaneous one. We report on mucocutaneous findings in 277 patients with JHS/EDS-HT with both sexes and various ages. Sixteen objective and five anamnestic items were selected and ascertained in two specialized outpatient clinics. Feature rates were compared by sex and age by a series of statistical tools. Data were also used for a multivariate correspondence analysis with the attempt to identify non-causal associations of features depicting recognizable phenotypic clusters. Our findings identified a few differences between sexes and thus indicated an attenuated sexual dimorphism for mucocutaneous features in JHS/EDS-HT. Ten features showed significantly distinct rates at different ages and this evidence corroborated the concept of an evolving phenotype in JHS/EDS-HT also affecting the skin. Multivariate correspondence analysis identified three relatively discrete phenotypic profiles, which may represent the cutaneous counterparts of the three disease phases previously proposed for JHS/EDS-HT. These findings could be used for revising the cutaneous criterion in a future consensus for the clinical diagnosis of JHS/EDS-HT.


Assuntos
Síndrome de Ehlers-Danlos/diagnóstico , Instabilidade Articular/congênito , Anormalidades da Pele/diagnóstico , Adolescente , Adulto , Idoso , Atrofia/patologia , Criança , Pré-Escolar , Cicatriz/patologia , Síndrome de Ehlers-Danlos/genética , Síndrome de Ehlers-Danlos/fisiopatologia , Feminino , Humanos , Instabilidade Articular/diagnóstico , Instabilidade Articular/genética , Instabilidade Articular/fisiopatologia , Masculino , Pessoa de Meia-Idade , Fenótipo , Anormalidades da Pele/genética , Anormalidades da Pele/fisiopatologia
6.
Dermatol Ther (Heidelb) ; 10(4): 887-892, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32533553

RESUMO

Graham Little-Piccardi-Lassueur syndrome (GLPLS) is a rare variant of lichen planopilaris, characterized by a triad of clinical signs including follicular spinous papules on the body area, scarring alopecia of the scalp and non-scarring alopecia of the groin and/or axilla. To date, fewer than 50 cases have been described in the literature. We first report a case of GLPLS investigated with non-invasive techniques such as dermoscopy and in vivo reflectance confocal microscopy (RCM) and successfully treated with narrowband-UVB (NB-UVB) phototherapy.

7.
Front Med (Lausanne) ; 5: 235, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30214901

RESUMO

Sun exposure is the main risk factor for cutaneous malignant melanoma (CMM). However, the UV-related pathogenetic mechanisms leading to CMM are far to be fully elucidated. In this paper we will focus on what we still don't fully know about the relationship between UVR and CMM. In particular, we will discuss: the action spectrum of human CMM, how different modalities of exposure (continuous/ intermittent; erythemal/ suberythemal) relate to different CMM variants, the preferential UVR induced DNA mutations observed in different CMM variants, the role of UV-related and UV-unrelated genetic damages in the same melanoma cells. Moreover, we will debate the importance of UVA induced oxidative and anaerobic damages to DNA and other cell structures and the role of melanins, of modulation of innate and acquired immunity, of vitamin D and of chronic exposure to phototoxic drugs and other xenobiotics. A better understanding of these issues will help developing more effective preventative strategies and new therapeutic approaches.

8.
G Ital Dermatol Venereol ; 153(1): 1-4, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28704992

RESUMO

BACKGROUND: Narrow-band UVB (NB-UVB) phototherapy is widely used worldwide for moderate and severe psoriasis, which is a chronic autoimmune inflammatory disease characterized by skin infiltrates of Th1-, Th17- and Th22-cells releasing locally pro-inflammatory cytokines. We investigate serum levels of tumor necrosis factor-α (TNF-α) in psoriatic patients before and after NB-UVB phototherapy. METHODS: Twenty-eight subjects with moderate/severe plaque type psoriasis were enrolled. The severity of skin involvement was rated according to the Psoriasis Area and Severity Index (PASI) score at baseline (T0) and after 4 (T1) and 12 (T2) weeks of NB-UVB treatment. At the same time points, blood samples were taken for evaluation of TNF-α levels. NB-UVB phototherapy was administered twice weekly on non-consecutive days until 12 weeks. RESULTS: The median PASI score significantly decreased from 12.0 at baseline (T0), to 6.9 after 4 weeks (T1, P<0.001) and to 0 after 12 weeks (T2, P<0.001). TNF-a serum levels significantly increased in respect to the baseline after 12 weeks of therapy. CONCLUSIONS: NB-UVB phototherapy is highly effective against psoriasis but, as it increases the TNF-α serum level, it seems unlikely that it can decrease the chronic inflammatory state that is thought to be responsible of the systemic co-morbidities of psoriasis.


Assuntos
Psoríase/radioterapia , Fator de Necrose Tumoral alfa/sangue , Terapia Ultravioleta/métodos , Adulto , Idoso , Citocinas/imunologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Psoríase/sangue , Psoríase/fisiopatologia , Índice de Gravidade de Doença , Células Th1/imunologia , Células Th17/imunologia , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
9.
Eur J Dermatol ; 24(3): 349-55, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24721824

RESUMO

BACKGROUND: Videocapillaroscopy of the nail fold is the current gold standard to assess progressive changes of the capillary network in patients with systemic sclerosis (SSc). Reflectance confocal microscopy (RCM) is a non-invasive optical imaging tool that allows in vivo visualization of the skin structures and cutaneous microcirculation. OBJECTIVE: To investigate qualitative and quantitative changes of the cutaneous microcirculation and dermal-epidermal alterations of SSc patients by RCM and to correlate the images with findings of videocapillaroscopy and histology. METHODS: Ten patients affected by diffuse-type SSc with skin involvement and 10 healthy controls were enrolled. All subjects underwent RCM of the dorsal and ventral surfaces of the middle third of the left forearm and nailfold videocapillaroscopy. Skin biopsies for histological and immunohistochemical investigations were taken from 5 patients and 2 healthy controls. RESULTS: At RCM observation, the diameter, perimeter and area of cutaneous capillaries were significantly increased in comparison to healthy controls, as histologically confirmed, whereas blood flow speed was significantly slower. Videocapillaroscopy showed a pathologic pattern of disease activity in 8 SSc patients and was non-specific in the remaining 2. In addition, RCM showed epidermal atrophy, flattening of rete ridges and dermal fibrosis in 7 SSc patients with long-standing disease but not in 3 patients with a recent onset. CONCLUSION: RCM provides measurable morphological and functional findings of microcirculation in patients suffering from diffuse-type SSc. These findings can integrate with, but not substitute, those provided by standard videocapillaroscopy. In addition, unlike videocapillaroscopy, RCM allows the investigation of epidermal and dermal changes.


Assuntos
Microcirculação , Angioscopia Microscópica , Microscopia Confocal , Esclerodermia Difusa/patologia , Pele/irrigação sanguínea , Pele/patologia , Gravação em Vídeo , Adulto , Idoso , Estudos de Casos e Controles , Epiderme/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Escleroderma Sistêmico/patologia , Adulto Jovem
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