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In this study, the European Academy of Dermatology and Venereology (EADV) Task Forces on Quality of Life and Patient-Oriented Outcomes and Urticaria and Angioedema has examined the Health-Related Quality of Life (HRQoL) measurement in the treatment of urticaria. The Dermatology Life Quality Index was the most frequently used HRQoL instrument in clinical trials on urticaria. Many reports of clinical trials of urticaria gave no exact numeric results related to HRQoL changes, making clear conclusions and comparisons with other studies impossible. The interpretation of HRQoL impairment data is more difficult when assessed by instruments without severity stratification systems. The minimal clinically significant difference (MCID) is a more clinically oriented and relevant parameter than depending on statistically significant changes in HRQoL scores. Therefore, using HRQoL instruments with established MCID data in clinical trials and clinical practice is preferred.
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BACKGROUND: Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by blister formation following minor trauma. Four major types are distinguished based on the level of cleavage within the skin. Most EB forms present severely disabling cutaneous and systemic signs and symptoms. Management relies on daily time-consuming and distressing topical medications, and symptomatic treatment of systemic findings. Disease manifestations, symptoms, and daily care strongly affect patient and caregiver quality of life (QoL). To date, there are two validated EB-specific questionnaires, the "Quality of Life in Epidermolysis Bullosa" (QOLEB) and the "Epidermolysis Bullosa Burden of Disease" (EB-BoD) for the evaluation of patient and family disease burden, respectively. The aim of our study was to develop an Italian translation of the two questionnaires and to pilot-test them. METHODS: The guidelines for translation and cross-cultural adaptation of health-related QoL measures were followed. Initially, two separate translations were generated for each questionnaire, and subsequently reconciled by an expert committee. This was followed by a back-translation process. The original texts and all translations underwent revision by the expert committee, resulting in definitive versions. The final versions were then tested in a pilot study involving cognitive debriefing in a group of 17 families, representative of all EB major types. RESULTS: The translation and reconciliation process led to minor changes to obtain semantic/idiomatic/cultural equivalence of the Italian versions with the original ones and to reconcile the questions with the answer options. The cognitive debriefing process showed a good understanding and did not require text modifications. CONCLUSIONS: The Italian versions of the QOLEB and EB-BoD provide valuable tools in everyday clinical practice of reference centers, and they allow the participation in multicenter international real-life observational studies as well as in controlled clinical trials. They enable the identification of disease-specific psychological and socioeconomic challenges for EB patients and their families, guiding targeted interventions to ensure appropriate and timely care.
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Epidermólise Bolhosa , Qualidade de Vida , Humanos , Efeitos Psicossociais da Doença , Epidermólise Bolhosa/diagnóstico , Epidermólise Bolhosa/terapia , Epidermólise Bolhosa/psicologia , Itália , Projetos Piloto , Qualidade de Vida/psicologia , Inquéritos e QuestionáriosRESUMO
Dermoscopy is widely used for the diagnosis of skin cancer and it increases the accuracy of basal cell carcinoma (BCC) detection. BCC dermoscopic criteria have been updated and divided into vascular, pigment-related, and non-vascular/non-pigment-related. Our multicenter retrospective study tested a new dermoscopic pigment-related characteristic to detect pigmented BCC (pBCC) [brown homogeneous blotches (BHB)]. Cases of pBCC were collected from the databases of IDI-IRCCS of Rome and from three Italian private dermatology centers. BHB are confined patches of brown uniform pigmentation without dermoscopic features (net, fat fingers, etc.) or other internal dermoscopic structures, except for occasional vascular ones like arborizing vessels or globules/dots. Melanocytic and non-melanocytic controls were used. We reviewed photos of 270 pigmented lesions (female 145; 51.8%), including 90 histopathologically verified pBCC and 180 control cases (90 melanocytic and 90 non-melanocytic). BHB were found in 61 cases of 90 pBCC patients. The results showed a 67.8 sensitivity, 93.3 specificity, 83.6 positive and 85.3 negative predictive values, posLR 10.2, negLR 0.3, odds ratio 29.4, p<0.001. Our multicentre retrospective analysis suggested the BHB may be a novel dermoscopic pBCC diagnosis criterion.
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BACKGROUND: Autosomal recessive congenital ichthyoses (ARCIs) are a clinically heterogeneous group of keratinization disorders characterized by generalized skin scaling due to mutations in at least 12 genes. The aim of our study was to assess disease severity, phenotypic, and ultrastructural features and to evaluate their association with genetic findings in ARCI patients. METHODS: Clinical signs and symptoms, and disease severity were scored in a single-center series of patients with a genetic diagnosis of ARCI. Skin ultrastructural findings were reviewed. RESULTS: Seventy-four consecutive patients (mean age 11.0 years, range 0.1-48.8) affected with lamellar ichthyosis (50/74, 67.5%), congenital ichthyosiform erythroderma (18/74, 24.3%), harlequin ichthyosis (two/74, 2.7%), and other minor ARCI subtypes (four/74, 5.4%) were enrolled. Mutated genes were as follows: TGM1 in 18/74 (24.3%) patients, ALOX12B in 18/74 (24.3%), CYP4F22 in 12/74 (16.2%), ABCA12 in nine/74 (12.2%), ALOXE3 in seven/74 (9.5%), NIPAL4 in seven/74 (9.5%), and CERS3, PNPLA1, and SDR9C7 in 1 patient each (1.4%). Twenty-five previously undescribed mutations in the different ARCI causative genes, as well as two microduplications in TGM1, and two microdeletions in CYP4F22 and NIPAL4 were identified. The mean ichthyosis severity score in TGM1- and ABCA12-mutated patients was significantly higher than in all other mutated genes, while the lowest score was observed in CYP4F22-mutated patients. Alopecia, ectropion, and eclabium were significantly associated with TGM1 and ABCA12 mutations, and large, thick, and brownish scales with TGM1 mutations. Among specific phenotypic features, psoriasis-like lesions as well as a trunk reticulate scale pattern and striated keratoderma were present in NIPAL4-mutated patients. Ultrastructural data available for 56 patients showed a 100% specificity of cholesterol clefts for TGM1-mutated cases and revealed abnormal lamellar bodies in SDR9C7 and CERS3 patients. CONCLUSION: Our study expands the phenotypic and genetic characterization of ARCI by the description of statistically significant associations between disease severity, specific clinical signs, and different mutated genes. Finally, we highlighted the presence of psoriasis-like lesions in NIPAL4-ARCI patients as a novel phenotypic feature with diagnostic and possible therapeutic implications.
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Eritrodermia Ictiosiforme Congênita , Ictiose Lamelar , Lipase , Mutação , Fenótipo , Índice de Gravidade de Doença , Transglutaminases , Humanos , Criança , Pré-Escolar , Masculino , Feminino , Adolescente , Adulto , Adulto Jovem , Lactente , Pessoa de Meia-Idade , Eritrodermia Ictiosiforme Congênita/genética , Eritrodermia Ictiosiforme Congênita/patologia , Itália , Estudos Transversais , Ictiose Lamelar/genética , Ictiose Lamelar/patologia , Transglutaminases/genética , Lipase/genética , Proteínas de Membrana/genética , Transportadores de Cassetes de Ligação de ATP/genética , Genótipo , Araquidonato 12-Lipoxigenase/genética , Pele/patologia , Pele/ultraestrutura , Ictiose/genética , Ictiose/patologia , Fosfolipases , Receptores de Superfície Celular , Aciltransferases , Esfingosina N-Aciltransferase , Sistema Enzimático do Citocromo P-450 , Oxirredutases , LipoxigenaseAssuntos
Hidradenite Supurativa , Humanos , Hidradenite Supurativa/diagnóstico , Masculino , Adulto , Feminino , ComorbidadeRESUMO
Hidradenitis suppurativa (HS) is a chronic-relapsing inflammatory skin disease. It usually appears in the second and third decades, but a smaller proportion of patients develop late-onset HS. Geriatric HS, defined as the persistence or the development of HS after the age of 65 years, has been poorly explored. This study aimed to investigate the clinical features, treatment management and response to therapies of HS elderly subjects (≥65 years old). We designed a multicentric observational study, gathering data from seven Italian university hospitals. Demographic and clinical data of HS patients aged over 65 years were collected at baseline, week 12 and week 24. Overall, 57 elderly subjects suffering from HS were enrolled. At baseline, disease severity was predominantly moderate-to-severe, with 45.6% of patients classified as Hurley III. The gluteal phenotype was the most frequently observed; it also appeared to affect patients' quality of life more than other phenotypes. Gluteal involvement was detected in about half (49.1%) of cases and associated with severe stages of the disease. In terms of therapeutic response, Hurley III patients showed the persistency of higher values of mean IHS4, DLQI, itch- and pain-NRS scores compared to Hurley I/II. In conclusion, disease severity in this subpopulation appears high and treatment is often challenging.
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Background: Recent studies are stressing the idea that the level of Hidradenitis Suppurativa (HS) severity does not always correspond to the same illness load. In fact, it was found that there was no significant association between Skindex-17 and clinical severity of HS, and that some items of the Skindex-17 might be more related to HS severity than others. Objective: The aim of the current study was to explore the associations between different levels of clinical severity of HS (mild, moderate, severe) and the Skindex-17 single-item responses in a large sample of adults patients. Methods: A cross-sectional study with a sample include 547 consecutive HS patients, approaching for the first time the specific dermatologic evaluation. Eligible criteria included age ≥ 18 years, HS diagnosis formulated contextually by the same expert clinician, and providing informed consent. All participants completed the Skindex-17 and were evaluated for the disease clinical severity with the International Hidradenitis Suppurativa Severity Score System. A Network Analysis was conducted, which represents a powerful methodological approach in clinical research. It allows to study specific patterns and the structure of complex system in order to better understand how the elements of the system interact with each-other. Three different Network Analyses were conducted for each group of HS clinical severity by including the items of the Skindex-17 as the nodes of each network. Results: Among 547 patients, 40% (219) were female and mean age was of 32.70 (±11.41). Different patterns among items of the Skindex-17 for the three clinical severity groups emerged, meaning that in each group different items are more crucial than others. The psychosocial subscale of the Skindex-17 is the most relevant when assessing the Quality of Life of individuals with different levels of HS severity, however, with the progression of the disease, individuals place attention also on two different aspects of the symptoms subscale of the Skindex-17, irritation and pain, which in turn perfectly reflect the severity of HS, from a clinical perspective. Conclusion: These results provide new insights on the association between levels of HS severity and related Quality of Life, measured with the Skindex-17.
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Hidradenite Supurativa , Adulto , Humanos , Feminino , Adolescente , Masculino , Hidradenite Supurativa/diagnóstico , Hidradenite Supurativa/psicologia , Qualidade de Vida , Estudos Transversais , Índice de Gravidade de Doença , DorRESUMO
BACKGROUND: Diagnosis of a severe condition may have a strong emotional impact on patients. Specific emotions experienced when receiving the diagnosis of a bullous disease have not been investigated. METHODS: Adult patients diagnosed with a bullous condition were recruited through the Italian Association of patients with pemphigus and pemphigoid (ANPPI). Information was collected online on sociodemographic and clinical data. We asked which emotions the patient experienced at the time of the diagnosis, i.e., isolation, anger, confusion, sadness, despair, disregard, fear, avoidance, and challenge. Also, the patients reported to whom they talked as soon as they had the diagnosis. RESULTS: Data were collected on 105 patients, most of whom were affected by pemphigus vulgaris. The emotion most frequently experienced at diagnosis was confusion (47.6% of patients). More than 30% of patients reported sadness and fear, 12.5% anger, and 10.5% despair. A significantly higher percentage of women than men experienced isolation and despair. Despair was more frequent in patients who were older at diagnosis. Patients with children experienced more sadness and despair, and less avoidance and challenge, while those who had a relative with a bullous disease reported less fear, and more challenge. CONCLUSIONS: Clinicians should be aware of the emotions of the patient when communicating the diagnosis of severe conditions, such as bullous diseases. Active listening and empathy are necessary to provide patients with correct information on the disease, so that they are not overwhelmed with negative emotions.
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Pênfigo , Dermatopatias Vesiculobolhosas , Masculino , Adulto , Criança , Humanos , Feminino , Emoções , Dermatopatias Vesiculobolhosas/diagnóstico , Dermatopatias Vesiculobolhosas/complicações , Medo , Ira , Pênfigo/diagnóstico , Pênfigo/complicações , Confusão/complicaçõesRESUMO
BACKGROUND: The occurrence of keratinocyte carcinomas (KC) worldwide appears to be increasing, however, information on the actual incidence of these tumours is often incomplete. OBJECTIVES: The aim of this study was to provide information on the KC/melanoma ratio in order to indirectly estimate the occurrence of KC. MATERIALS & METHODS: Data were collected according to a snowball sampling procedure between Italian dermatologists. Colleagues working on melanoma and non-melanoma units were excluded. These ratios were applied to estimates derived from histopathological records, namely melanoma incidence estimates available from the Italian National Cancer Registry Network. The final estimates for KC incidence were thus obtained using the formula: KC incidence (per 100,000) = melanoma incidence (per 100,000) * (KC/melanoma ratio). RESULTS: Our results revealed a BCC/melanoma ratio of 4.4 and SCC/melanoma ratio of 1.7; values that are approximately 4 to 5 times smaller than those self-reported by dermatologists. Interestingly, this large discrepancy was not observed for the BCC/SCC ratio, which was 2.5 in the north, 2.7 in the centre, and 3.2 in the south of Italy, with an overall value of 2.8. Based on the histopathological data, this ratio was 2.6. CONCLUSION: In Italy, the actual occurrence of BCC and SCC seems to be vastly underestimated based on histopathological data, compared to data reported by dermatologists.
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Carcinoma , Melanoma , Humanos , Incidência , Melanoma/epidemiologia , Itália/epidemiologia , QueratinócitosRESUMO
Non-melanoma skin cancers (NMSCs), which include basal cell carcinoma (BCC), squamous cell carcinoma (SCC), and actinic keratosis (AK), are the most common cancer diseases in the Caucasian race. If diagnosed late and improperly treated, BCC and SCC can become locally advanced and metastasize. Malignant melanoma (MM) is less frequent but more lethal than NMSC. Given the individual and social burdens of skin cancers, performing an adequate prevention is needed. Ultraviolet (UV) ray exposure is one of the main risk factors for skin cancer. Thus, the first-choice prevention strategy is represented by photoprotection that can be both topical and systemic. The latter consists of the oral administration of molecules which protect human skin against the damaging effects of UV rays, acting through antioxidant, anti-inflammatory, or immunomodulator mechanisms. Although several compounds are commonly used for photoprotection, only a few molecules have demonstrated their effectiveness in clinical trials and have been included in international guidelines for NMSC prevention (i.e., nicotinamide and retinoids). Moreover, none of them have been demonstrated as able to prevent MM. Clinical and preclinical data regarding the most common compounds used for systemic photoprotection are reported in this review, with a focus on the main mechanisms involved in their photoprotective properties.
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Carcinoma Basocelular , Carcinoma de Células Escamosas , Ceratose Actínica , Melanoma , Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/prevenção & controle , Neoplasias Cutâneas/diagnóstico , Melanoma/prevenção & controle , Carcinoma Basocelular/patologia , Ceratose Actínica/complicações , Ceratose Actínica/diagnóstico , Ceratose Actínica/patologia , Carcinoma de Células Escamosas/prevenção & controle , Carcinoma de Células Escamosas/diagnóstico , Síndrome , Melanoma Maligno CutâneoRESUMO
Sarcoidosis is a multisystem disease that affects the skin in 20 to 30% of cases. Skin findings are often the initial presenting signs, and cutaneous sarcoidosis may appear with a wide variety of lesions; it is often considered an imitator of many other skin diseases. Clinical appearance and specific dermoscopic criteria, confirmed by a typical pathology, may guide to the correct diagnosis. We report the case of a man affected by maculo-papular sarcoidosis on the back, in which the detection of cutaneous lesions was the initial step to determine the systemic nature of the disease.
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BACKGROUND: Few studies have investigated the role of inflammatory markers in predicting cutaneous melanoma survival. The aim of the study was to identify, if any, early inflammatory markers in the prognosis of all stages of primary cutaneous melanoma. METHODS: We conducted a 10-year cohort study among 2,141 melanoma patients from the same geographic area (Lazio) with primary cutaneous melanoma diagnosed between January 2005 and December 2013. In situ cutaneous melanoma was excluded from the analysis (N = 288), leaving 1,853 cases of invasive cutaneous melanoma. The following hematological markers were obtained from clinical records: white blood cells count (WBC), count and percentages of neutrophils, basophils, monocytes, lymphocytes, and large unstained cells (LUC). Survival probability was estimated by Kaplan-Meier methods, and prognostic factors were evaluated by multivariate analysis (Cox proportional hazards model). RESULTS: In the multivariate analysis, high levels of NLR (>2.1 vs. ≤2.1, HR: 1.61; 95% CI: 1.14-2.29, P = 0.007) and high levels of d-NLR (>1.5 vs. ≤1.5, HR: 1.65; 95% CI: 1.16-2.35, P = 0.005) were independently associated with an increased risk of 10-year melanoma mortality. However, when we stratified by Breslow thickness and clinical stage, we observed that NLR and d-NLR were good markers of prognosis only for patients with Breslow thickness of 2.0 mm and more (NLR, HR: 1.62; 95% CI: 1.04-2.50; d-NLR, HR: 1.69; 95% CI: 1.09-2.62) or clinical stage II-IV (NLR, HR: 1.55; 95% CI: 1.01-2.37; d-NLR, HR: 1.72; 95% CI: 1.11-2.66), independent of other prognostic factors. CONCLUSION: We suggest that a combination of NLR and Breslow thickness may be a useful, cheap, and readily available prognostic marker for cutaneous melanoma survival.
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Melanoma , Neoplasias Cutâneas , Humanos , Melanoma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Estudos de Coortes , Biomarcadores , Melanoma Maligno CutâneoRESUMO
Members of the European Academy of Dermatology and Venereology (EADV) Task Force on Quality of Life (QoL) and Patient Oriented Outcomes reviewed the instruments available for health-related (HR) QoL assessment in vitiligo and together with external vitiligo experts (including representatives of the EADV Vitiligo Task Force) have made practical recommendations concerning the assessment of QoL in vitiligo patients. The Dermatology Life Quality Index (DLQI) was the most frequently used HRQoL instrument, making comparison of results between different countries possible. Several vitiligo-specific instruments were identified. The vitiligo Impact Scale (VIS) is an extensively validated vitiligo-specific HRQoL instrument with proposed minimal important change and clinical interpretation for VIS-22 scores. VIS-22 was developed for use in India, where there are some specific cultural beliefs concerning vitiligo. The EADV Task Force on QoL and Patient Oriented Outcomes recommends use of the DLQI and the Children's Dermatology Life Quality Index (CDLQI) as dermatology-specific instruments in vitiligo. There is a strong need for a valid (including cross-cultural validation) vitiligo-specific instrument that can be either a new instrument or the improvement of existing instruments. This validation must include the proof of responsiveness.
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Dermatologia , Venereologia , Vitiligo , Criança , Humanos , Qualidade de Vida , Inquéritos e Questionários , Vitiligo/terapiaRESUMO
Objective: Assuming that the difference exist in the manifestation of psychological suffering among genders, the purpose of this review is to summarize the current knowledge on gender differences in vitiligo quality of life and psychological assessment. Methods: We searched in PubMed, Scopus, and Web of Science databases for original articles in English language. Results were screened according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA checklist). Results: The study yielded 107 results; 12 articles have been evaluated as eligible. Each eligible study has been screened and analyzed. The study's qualitative evaluation revealed that 8 papers were classifiable as satisfactory, 4 were classifiable as unsatisfactory. The agreement between the coders was high (% agreement = 84.6%; Cohen's kappa = 0.79). All considered researches (100%) were cross-sectional studies, based on self-report questionnaires. From our analysis, women with vitiligo had a higher risk to experience lower quality of life, and worse mental health in a wide range of psychopathology symptoms than men. A wide heterogeneity of tools is used to investigate the quality of life and psychological symptoms among these patients. Conclusion: Unfortunately, there are few explanatory models proposed in the literature to rationalize these findings. It will be important to investigate in further researches the specific influence of known risk factors for psychopathology in this population to better explore these phenomena.