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1.
Artigo em Inglês | MEDLINE | ID: mdl-38572809

RESUMO

BACKGROUND: Differential diagnosis of amelanotic/hypomelanotic melanoma among solitary flat pink lesions is challenging, due to limited clinical and dermoscopic clues. Dermoscopy and reflectance confocal microscopy assessments improve diagnostic accuracy, but their combined capacity among solitary flat pink lesions is yet to be defined. OBJECTIVES: To determine (i) whether diagnostic accuracy is improved with combined dermoscopy and reflectance confocal microscopy, (ii) a model to estimate probability of flat amelanotic/hypomelanotic melanoma among solitary flat pink lesions. METHODS: A retrospective single-centre study of solitary flat pink lesions, excised for suspected malignancy between 2011 and 2022 was performed. Images were independently evaluated by two dermatologists, blinded to histopathological diagnosis. Diagnostic performance was evaluated on the receiver operating characteristic curve and the area under the curve. Predictive features were identified by univariate and multivariate logistic regression analyses. A final predictive nomogram of independent risk factors was calculated by backward likelihood ratio. Hypothesis being tested was formulated before data collection. RESULTS: A total of 184 patients (87 females, 47.3%) were included; mean age was 57.6 years (19-95). Combined dermoscopy and reflectance confocal microscopy was more sensitive (83%, CI 69.2-92.4 and 91.5%, CI 79.6-97.6) than dermoscopy alone (76.6%, CI 62.0-87.7 and 85.1%, CI 71.7-93.8). Predictive features defined the new model, including linear irregular vessels (4.26-folds, CI 1.5-12.1), peripheral pigment network (6.07-folds, CI 1.83-20.15), remnants of pigmentation (4.3-folds, CI 1.27-14.55) at dermoscopy and atypical honeycomb (9.98-folds, CI 1.91-51.96), disarranged epidermal pattern (15.22-folds, CI 2.18-106.23), dendritic pagetoid cells in the epidermis (3.77-folds, CI 1.25-11.26), hypopigmented pagetoid cells (27.05-folds, CI 1.57-465.5), and dense and sparse nests (3.68-folds, CI 1.24-10.96) in reflectance confocal microscopy. Diagnostic accuracy of the model was high (AUC 0.91). CONCLUSIONS: Adjunctive reflectance confocal microscopy increases diagnostic sensitivity of flat amelanotic/hypomelanotic melanoma differential diagnosis. The proposed model requires validation.

2.
J Endocrinol Invest ; 2024 Feb 08.
Artigo em Inglês | MEDLINE | ID: mdl-38329607

RESUMO

PURPOSE: The screening test to suspect infantile hypercalcemia-1 (HCINF1) is the measure of 25(OH)D3/24,25(OH)2D3 ratio at mass spectroscopy (MS). When the ratio is > 80, the gold standard for the diagnosis is genetic analysis. Given its limited availability, MS may not represent a screening test and most cases of HCINF1 remain undiagnosed. Aim of the study is to identify cut-offs of serum calcium and PTH useful to suspect patients with HCINF1. METHODS: We compared the levels of total serum calcium and PTH of 6 patients with HCINF1 harboring biallelic CYP24A1 pathogenic variants with 3 different control groups: (1) 12 subjects wild type for CYP24A1; (2) 12 subjects matched for age and sex; (3) 12 subjects matched for vitamin D levels. We validated the cut-offs, testing the number of adult patients affected by HCINF1 reported in the literature that could be identified using these cut-offs. RESULTS: A serum calcium level > 9.6 mg/dL showed the highest sensitivity (100%) and specificity (91%) in the comparison between homozygous and wild-type subjects. A serum PTH index < 0.315 showed the highest sensitivity (100%) and specificity (83.3%). A serum calcium level > 9.6 mg/dL was able to identify all adult HCINF1 patients whereas a PTH ratio < 0.315 identified 89.8% of the cases. Superimposable results were obtained using the other control groups. CONCLUSION: Patients with serum calcium levels higher than 9.6 mg/dL and a PTH index lower than 0.315 are likely to be affected by HCINF1. Their diagnosis may be confirmed using MS and genetic analysis.

3.
J Endocrinol Invest ; 47(2): 469-478, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37561279

RESUMO

PURPOSE: Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant disease characterized by the triad of hypoparathyroidism, deafness, and renal abnormalities. The disorder is caused by the haploinsufficiency of the zinc finger transcription factor GATA3 and exhibits a great clinical variability with an age-dependent penetrance of each feature. We report two unrelated kindreds whose probands were referred to our outpatient clinic for further evaluation of hypoparathyroidism. METHODS: The proband of family 1, a 17-year-old boy, was referred for severe hypocalcemia (5.9 mg/dL) incidentally detected at routine blood tests. Abdomen ultrasound showed bilateral renal cysts. The audiometric evaluation revealed the presence of bilateral moderate hearing loss although the patient could communicate without any problem. Conversely, the proband of family 2, a 19-year-old man, had severe symptomatic hypocalcemia complicated by epileptic seizure at the age of 14 years; his past medical history was remarkable for right nephrectomy at the age of 4 months due to multicystic renal disease and bilateral hearing loss diagnosed at the age of 18 years. RESULTS: Based on clinical, biochemical, and radiologic data, HDR syndrome was suspected and genetic analysis of the GATA3 gene revealed the presence of two pathogenetic variants in exon 3, c.404dupC and c.431dupG, in the proband of family 1 and 2, respectively. CONCLUSION: HDR syndrome is a rare cause of hypoparathyroidism and must be excluded in all patients with apparently idiopathic hypoparathyroidism. A correct diagnosis is of great importance for early detection of other HDR-related features and genetic counseling.


Assuntos
Surdez , Perda Auditiva Neurossensorial , Hipocalcemia , Hipoparatireoidismo , Nefrose , Masculino , Humanos , Adolescente , Lactente , Adulto Jovem , Adulto , Hipocalcemia/complicações , Hipocalcemia/diagnóstico , Hipocalcemia/genética , Hipoparatireoidismo/complicações , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/genética , Surdez/complicações , Surdez/genética , Itália
4.
J Endocrinol Invest ; 45(10): 1909-1918, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35751804

RESUMO

PURPOSE: Hypoparathyroidism (HypoPT) is a rare endocrine disease and conventional therapy is based on calcium and vitamin D analogues. Conventional therapy does not restore calcium homeostasis and patients complain with neuropsychological symptoms, which have been evaluated with nonspecific self-administered questionnaires. This study aims to evaluate cognitive functions of patients with chronic post-surgical (PS)-HypoPT compared to a control population, using a standardized neuropsychological approach and evaluating the relationship with serum calcium (Alb-Ca). METHODS: Observational, monocentric study on 33 patients with PS-HypoPT and 24 controls, in whom biochemical testing and a standardized neuropsychological assessment by a trained psychologist were performed. RESULTS: In patients with PS-HypoPT, low Alb-Ca correlated with a worse performance on semantic memory abilities and executive function, as suggested by a significant inverse correlation between Alb-Ca and Trail Making Test A (TMT-A) scores (r = - 0.423; p = 0.014) and by a positive correlation with Semantic Fluency Test scores (SF)(r = 0.510; p = 0.002). PS-HypoPT patients with Alb-Ca ≤ 8.9 mg/dl had a significantly lower test performance compared with PS-HypoPT patients with Alb-Ca > 8.9 mg/dl, both at the TMT-A test (mean score: 34.53-18.55; p < 0.0001) and at SF test (mean score: 41.94-48.68; p = 0.01) and also a significantly lower test performance compared with control patients' group at TMT-A (mean score: 34.53-25.5; p = 0.0057). CONCLUSIONS: Patients with chronic PS-HypoPT in conventional therapy do not show a severe cognitive impairment; however, cognitive functions namely visuo-spatial attention, executive function and semantic memory appear to be modulated by Alb-Ca and impaired by its low levels.


Assuntos
Cálcio , Hipoparatireoidismo , Cognição , Estudos de Coortes , Humanos , Hipoparatireoidismo/etiologia , Complicações Pós-Operatórias/diagnóstico
5.
J Eur Acad Dermatol Venereol ; 36(9): 1524-1540, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35536546

RESUMO

Cutaneous adnexal tumours (ATs) encompass a variegated group of hamartomas and benign or malignant tumours, originating from the hair follicle, sebaceous, eccrine or apocrine glands that may simulate other cutaneous neoplasms. This study aims to provide a comprehensive overview of the spectrum of clinical and dermoscopic features of ATs, to better define these lesions and assist in the differential diagnosis. We performed a two-step systematic search of the literature in PubMed, Embase and Cochrane Library databases from inception until 4 September 2020. In the first step, we aimed to define histological variants of ATs with descriptions of dermoscopic criteria. The second step included a search for the name of each previously identified AT variants in the same databases adding 'AND (epilum* or dermosc* or dermatosc*)'. All study types in English language reporting dermoscopic images of ATs were included. Collisions between ATs and other inflammatory or neoplastic skin lesions were excluded, with the exception of collisions with a sebaceous nevus. The protocol of this study was prospectively registered in PROSPERO (CRD42021244677). In total, 206 articles met our inclusion criteria, encompassing 372 ATs in 365 patients. Most ATs were apocrine-eccrine (n = 217, 58.3%, n = 173 benign) with a prevalence of poromas (n = 82), followed by follicular ATs (n = 88, 23.7%, n = 83 benign) and sebaceous ATs (n = 67, 18.0%, n = 49 benign). Most patients had a single AT lesion (320, 86.0%), while 42 (11.3%) had multiple ATs. A syndrome causing multiple ATs was identified in 15 patients. Histopathological analysis revealed 82% benign (n = 305) and 18.0% malignant (n = 67). ATs were classified according to their ability to mimic four groups of more common skin tumours: basal cell carcinoma, squamous cell carcinoma, melanocytic lesions and benign cutaneous lesions. Moreover, we have highlighted the ability of malignant variants of ATs to simulate benign skin lesions. This systematic review offers a comprehensive overview of the common clinical and dermoscopic features of follicular, sebaceous and apocrine-eccrine ATs and details possible differential dermoscopic features.


Assuntos
Carcinoma Basocelular , Nevo Sebáceo de Jadassohn , Neoplasias Cutâneas , Neoplasias das Glândulas Sudoríparas , Carcinoma Basocelular/patologia , Dermoscopia , Humanos , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/patologia , Neoplasias das Glândulas Sudoríparas/patologia
6.
J Endocrinol Invest ; 45(3): 573-582, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34637114

RESUMO

PURPOSE: Conventional therapy (calcium and activated vitamin D) does not restore calcium homeostasis in patients with chronic hypoparathyroidism (HypoPT) and is associated with renal complications and reduced quality of life (QoL). The aim of this study was to evaluate in a case-control, cross-sectional study, the rate of renal complications and QoL in two sex- and age-matched cohort of patients with differentiated thyroid cancer with (n = 89) and without (n = 89) chronic post-operative HypoPT (PoHypoPT) and their relationship with the biochemical control of the disease. METHODS: Serum and urinary parameters, renal ultrasound and QoL were assessed by SF-36 and WHO-5 questionnaires. RESULTS: Forty-three (48.3%) PoHypoPT patients reported symptoms of hypocalcemia. Twenty-six (29.2%) patients were at target for all 6 parameters, 46 (51.6%) for 5. The most frequently unmet targets were gender-specific 24-h urinary calcium (44.9%) and serum calcium (37.1%). Serum phosphate, magnesium and 25(OH)D were in the normal range in > 90% of patients. Renal calcifications were found in 26 (29.2%) patients, with no correlation with 24-h urinary calcium. eGFR did not differ between patients and controls. Conversely, patients had a significant higher rate of renal calcifications and a lower SF-36, but not WHO-5, scores. SF-36 scores did not differ between PoHypoPT patients who were, or not, hypocalcemic. CONCLUSIONS: Our study shows that the rate of renal calcifications was higher in patients with PoHypoPT than in those without. This finding, together with the reduced QoL and the presence of hypocalcemic symptoms in about half patients, underscores that the treatment of chronic HypoPT with conventional therapy is suboptimal.


Assuntos
Cálcio , Hipoparatireoidismo , Nefrolitíase , Complicações Pós-Operatórias , Qualidade de Vida , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia , Vitamina D/uso terapêutico , Cálcio/sangue , Cálcio/metabolismo , Cálcio/uso terapêutico , Cálcio/urina , Hormônios e Agentes Reguladores de Cálcio/metabolismo , Hormônios e Agentes Reguladores de Cálcio/uso terapêutico , Feminino , Humanos , Hipocalcemia/sangue , Hipocalcemia/etiologia , Hipocalcemia/terapia , Hipocalcemia/urina , Hipoparatireoidismo/sangue , Hipoparatireoidismo/complicações , Hipoparatireoidismo/etiologia , Hipoparatireoidismo/psicologia , Masculino , Pessoa de Meia-Idade , Nefrolitíase/sangue , Nefrolitíase/etiologia , Nefrolitíase/psicologia , Nefrolitíase/terapia , Avaliação de Resultados em Cuidados de Saúde , Complicações Pós-Operatórias/sangue , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/psicologia , Complicações Pós-Operatórias/terapia , Inquéritos e Questionários , Neoplasias da Glândula Tireoide/patologia , Tireoidectomia/efeitos adversos , Tireoidectomia/métodos
7.
J Eur Acad Dermatol Venereol ; 34(12): 2802-2808, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32402129

RESUMO

BACKGROUND: Melanocytic lesions with eccentric hyperpigmentation (EH), even though without other dermatoscopic features of melanoma, are often excised. OBJECTIVE: Aiming to understand whether the EH in a pigmented lesion is an accurate criterion of malignancy, we evaluated the capability of two evaluators, with different expertise, to correctly diagnose a melanoma when analysing a given lesion in toto versus a partial analysis, with only the EH or the non-hyperpigmented portion (non-EH) visible. METHODS: Dermatoscopic images of 240 lesions (107 melanomas and 133 nevi) typified by EH were selected. Facial, acral, mucosal lesions and lesions showing clear-cut features of melanoma (except for atypical network) were excluded. Clinical and dermoscopic features (main pattern and numbers of colours) were described for all cases. Each image was split in two through a software so that only the EH or the non-EH was visible. Two blinded evaluators examined three sets of images, two with customized images and one with the non-modified ones: they were asked to give a dichotomous diagnosis (melanoma or nevus) for each image. RESULTS: Melanomas were significantly more frequently typified by colour variegation (3 colours in 44.8% and 4 colours in 41.1% of cases) and atypical network (88.1% in the EH). No significant differences in diagnostic accuracy emerged between the two evaluators. Sensitivity improved in the evaluation of the whole lesions (mean sensitivity 89.7%) in comparison with the evaluation of EH or non-EH alone (72.7-62.6%). Specificity increased when evaluating the EH (54.1%). Positive predictive value (PPV) and likelihood ratio (LR+) of EH resulted 52.3% and 1.4, meaning that in one case out of two with EH is a melanoma. CONCLUSIONS: Lesions with EH are challenging, regardless of dermoscopic experience. The EH is a robust criterion for malignancy, since the evaluation of the whole lesion, through an intralesional comparative approach, increases sensitivity.


Assuntos
Hiperpigmentação , Melanoma , Nevo Pigmentado , Nevo , Neoplasias Cutâneas , Dermoscopia , Diagnóstico Diferencial , Humanos , Hiperpigmentação/diagnóstico , Melanoma/diagnóstico por imagem , Nevo Pigmentado/diagnóstico , Neoplasias Cutâneas/diagnóstico
8.
J Endocrinol Invest ; 43(3): 399, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31559585

RESUMO

Unfortunately, the 13th author name has been published incorrectly in the original publication.

9.
J Endocrinol Invest ; 43(5): 677-682, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31873910

RESUMO

CONTEXT: The latest guidelines of the 4th International Workshop on Asymptomatic Primary Hyperparathyroidism (aPHPT) reintroduced hypercalciuria (i.e. urinary calcium > 400 mg/day) as criterion for surgery. However, the value of hypercalciuria as a predictor of nephrolithiasis and the correct cut-off values still need to be confirmed. OBJECTIVE: To evaluate the prevalence of silent kidney stones in a large series of patients with aPHPT and the sensibility, specificity and predictive value of different cut-off values of hypercalciuria in identifying patients with nephrolithiasis. DESIGN: One hundred seventy-six consecutive patients with aPHPT were evaluated at our Institution by serum and urinary parameters and kidney ultrasound. RESULTS: Silent nephrolithiasis was found in 38 (21.6%) patients. In the univariate and multivariate model, hypercalciuria was a predictor of nephrolithiasis using the criterion of 400 mg/24 h [(OR 2.30, (1.11-4.82) P = 0.025], 4 mg/kg/bw [OR 2.65, (1.14-6.25) P = 0.023], gender criterion [OR 2.79, (1.15-6.79) P = 0.023] and the cut-off value derived from the ROC analysis [(> 231 mg/24 h) OR 5.02 (1.68-14.97) P = 0.004]. Despite these several predictive criteria, however, hypercalciuria had a low positive predictive value (PPV), ranging from 27.4 to 32.7%. CONCLUSIONS: Hypercalciuria is a predictor of nephrolithiasis, but its PPV is low.


Assuntos
Hipercalciúria/etiologia , Hiperparatireoidismo Primário/complicações , Cálculos Renais/etiologia , Nefrolitíase/etiologia , Adulto , Idoso , Feminino , Humanos , Hipercalciúria/diagnóstico por imagem , Hiperparatireoidismo Primário/diagnóstico por imagem , Cálculos Renais/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Nefrolitíase/diagnóstico por imagem , Valor Preditivo dos Testes , Fatores de Risco , Ultrassonografia
10.
J Endocrinol Invest ; 43(2): 231-245, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31486992

RESUMO

PURPOSE: Familial isolated hyperparathyroidism (FIHP) is a rare inherited disease accounting for 1% of all cases of primary hyperparathyroidism (PHPT). It is genetically heterogeneous being associated with mutations in different genes, including MEN1, CDC73, CASR, and recently GCM2. The aim of the study was to further investigate the molecular pathogenesis in Italian FIHP kindreds. METHODS: We used whole exome sequencing (WES) in the probands of seven unrelated FIHP kindreds. We carried out a separate family-based exome analysis in a large family characterized by the co-occurrence of PHPT with multiple tumors apparently unrelated to the disease. Selected variants were also screened in 18 additional FIHP kindreds. The clinical, biochemical, and pathological characteristics of the families were also investigated. RESULTS: Three different variants in GCM2 gene were found in two families, but only one (p.Tyr394Ser), already been shown to be pathogenic in vitro, segregated with the disease. Six probands carried seven heterozygous missense mutations segregating with the disease in the FAT3, PARK2, HDAC4, ITPR2 and TBCE genes. A genetic variant in the APC gene co-segregating with PHPT (p.Val530Ala) was detected in a family whose affected relatives had additional tumors, including colonic polyposis. CONCLUSION: We confirm the role of GCM2 germline mutations in the pathogenesis of FIHP, although at a lower rate than in the previous WES study. Further studies are needed to establish the prevalence and the role in the predisposition to FIHP of the novel variants in additional genes.


Assuntos
Sequenciamento do Exoma/métodos , Variação Genética/genética , Hiperparatireoidismo Primário/diagnóstico por imagem , Hiperparatireoidismo Primário/genética , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Adulto Jovem
11.
J Eur Acad Dermatol Venereol ; 33(8): 1541-1546, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30974506

RESUMO

BACKGROUND: In vivo reflectance confocal microscopy significantly improves melanoma diagnosis as compared to clinical/dermoscopic examination alone. Several confocal criteria have been described allowing to differentiate melanoma from nevi; by combining different criteria, three pure confocal scores (Pellacani 2005, Segura 2009 and Pellacani 2012) and one mixed dermoscopic/confocal score (Borsari 2018) were constructed. OBJECTIVE: Our aim was to externally validate and compare the performance of these confocal scores. METHODS: We retrospectively enrolled excised melanocytic lesions which underwent confocal examination in a 2-year period. Lesions located on the face and acral sites were excluded. Both dermoscopic and confocal criteria considered in the four scores were evaluated by experts. Subsequently, specificity and sensitivity levels for each score were calculated, together with the positive and negative predictive values and likelihood ratios; also, receiver operating characteristic curves were constructed. RESULTS: A total of 389 patients with 422 lesions were retrospectively enrolled, of which 162 (38.4%) were melanomas and 260 (61.6%) were nevi (189 common and 71 Spitz/Reed nevi). The highest sensitivity levels were recorded for Segura 2009 with cut-off ≥-1 (92.0%), while Pellacani 2005 with cut-off ≥5 achieved the highest specificity (69.6%). The score by Borsari et al. showed the highest levels of positive and negative predictive values (59.8% and 91.5%) and likelihood ratios (2.4 and 0.1) as well as the highest area under the curve values (0.76; 95% CI 0.72-0.81; P < 0.001). CONCLUSIONS: High levels of accuracy were found for each of the four considered scores. No differences were found among scores in confirming melanoma diagnosis when positive; however, the score by Borsari 2018 was the best in excluding melanoma diagnosis when negative.


Assuntos
Melanoma/diagnóstico , Microscopia Confocal/métodos , Nevo Pigmentado/diagnóstico , Neoplasias Cutâneas/diagnóstico , Adulto , Algoritmos , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Melanoma/patologia , Pessoa de Meia-Idade , Nevo Pigmentado/patologia , Estudos Retrospectivos , Neoplasias Cutâneas/patologia
12.
Front Horm Res ; 51: 40-51, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30641519

RESUMO

Individuals with a familial predisposition to the development of parathyroid tumors constitute a small minority of all patients with primary hyperparathyroidism (PHPT). These familial syndromes exhibit Mendelian inheritance patterns and the main causative genes in most families have been identified. They include multiple endocrine neoplasia (MEN; types 1, 2A, and 4), hyperparathyroidism-jaw tumor (HPT-JT) syndrome, familial isolated hyperparathyroidism, familial hypocalciuric hypercalcemia (FHH), and neonatal severe PHPT. Each MEN type is associated with the various combinations of specific tumors. MEN1 is characterized by the occurrence of parathyroid, enteropancreatic, and pituitary tumors; MEN2A is characterized by medullary thyroid carcinoma and pheochromocytoma, and MEN4 is characterized by a pathological spectrum similar to that of MEN1 in association with tumors of the adrenal, kidney, and reproductive organs. HPT-JT is characterized by PHPT, ossifying fibromas of maxillary bones, kidney disease, and uterine neoplasias. The prompt diagnosis of these diseases is of great importance for planning appropriate surveillance of the mutant carriers and correct surgical management. The search for mutation is also useful for the identification of the family members who do not carry the mutation and can avoid unnecessary biochemical and instrumental evaluations. Surgery remains the treatment of choice in all familial forms except FHH.


Assuntos
Hiperparatireoidismo Primário/diagnóstico , Hiperparatireoidismo Primário/genética , Neoplasia Endócrina Múltipla/diagnóstico , Neoplasia Endócrina Múltipla/genética , Humanos
13.
J Eur Acad Dermatol Venereol ; 33(3): 525-532, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30317655

RESUMO

BACKGROUND: Sclerosing nevus with pseudomelanomatous features (SNPFs) is a clinical and pathologic entity that mimics melanoma both clinically and histologically. The lesion is a melanocytic nevus, histologically characterized by fibrosis and a pseudomelanomatous proliferation. It is typically seen in young to middle-aged individuals, mainly on the back, where microtrauma or inflammatory changes are more frequent. Dermoscopic description of SNPF has been reported so far in one case series. OBJECTIVE: The aim of our study was to describe the dermoscopic and confocal features of SNPF. METHODS: Histopathologically confirmed cases of SNPF were retrospectively collected from three referral centres in Italy. Only lesions with available clinical, dermoscopic and histopathological data were included; confocal images were also retrieved, when available. Lesions were evaluated for the presence of 12 dermoscopic and five confocal criteria previously described. RESULTS: The study population included 93 lesions in as many patients (71 men and 22 women; median age: 38 years). Dermoscopically, we found a predominance of dark colours, in particular brown and blue, which were found in all lesions and the vast majority of the lesions (86/93; 92.5%) displayed at least one structureless area. By the combination of colours and structures, we observed that the majority of the lesions (67/92; 72%) were characterized by more than one structure and more than one colour. Confocal evaluation was performed on a subset of 24/93 lesions showing a regular architecture pattern (19/24 cases, 79%), with a predominance of the ringed pattern. The presence of focal cytologic atypia at the dermal-epidermal junction was present in 12/24 cases (50%) with a prevalent dendritic-shaped cell proliferation. CONCLUSIONS: The current study demonstrated that SNPF was frequently characterized, on dermoscopic examination, by more than one structure and more than one colour and on confocal microscopy by a regular ringed pattern with focal dendritic atypical cells.


Assuntos
Dermoscopia , Melanoma/diagnóstico por imagem , Nevo Pigmentado/diagnóstico por imagem , Nevo Pigmentado/patologia , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/patologia , Adulto , Proliferação de Células , Diagnóstico Diferencial , Feminino , Fibrose , Humanos , Masculino , Microscopia Confocal , Pessoa de Meia-Idade , Estudos Retrospectivos
14.
Dermatol Ther ; 31(4): e12613, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29687567

RESUMO

Actinic cheilitis (AC) can precede the development of squamous cell carcinoma (SCC) of the lip, a location with higher risk of invasiveness and metastasis. Herein, we reported the use of ingenol mebutate (IngMeb) 0.015% gel on three consecutive days to treat three patients suffering from AC. All the three patients achieved complete clearance of AC with rapid clinical effect, favorable safety profile, good patient's compliance related to short time of applications, and few local skin reactions. So IngMeb is an attractive new therapy for AC. Moreover, the present case report adds further evidence to the usefulness of dermoscopy and Reflectance confocal microscopy (RCM) in the assessment and monitoring of treatment outcome.


Assuntos
Queilite/diagnóstico , Queilite/tratamento farmacológico , Dermoscopia , Diterpenos/administração & dosagem , Lábio/efeitos dos fármacos , Lábio/patologia , Microscopia Confocal/métodos , Administração Tópica , Idoso , Idoso de 80 Anos ou mais , Queilite/patologia , Feminino , Géis , Humanos , Masculino , Valor Preditivo dos Testes , Indução de Remissão , Fatores de Tempo , Resultado do Tratamento
15.
J Eur Acad Dermatol Venereol ; 32(12): 2090-2096, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29633358

RESUMO

The use of confocal microscopy is possible using two different modalities: first, at patient's bedside for a rapid in vivo diagnosis of basal cell carcinoma and second, in the operating room directly on freshly excised specimen for a fast ex vivo margin-controlled surgery. In the current review, we report the main application of confocal microscopy for basal cell carcinoma diagnosis and management in both modalities.


Assuntos
Carcinoma Basocelular/diagnóstico por imagem , Neoplasias Cutâneas/diagnóstico por imagem , Carcinoma Basocelular/cirurgia , Humanos , Microscopia Intravital , Microscopia Confocal/métodos , Neoplasias Cutâneas/cirurgia
16.
Br J Dermatol ; 179(1): 163-172, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29355898

RESUMO

BACKGROUND: Although several dermoscopic features of in situ melanoma have been identified, data on confocal features of in situ melanoma are still lacking. OBJECTIVES: To identify reflectance confocal microscopy (RCM) features of in situ melanoma and to develop a diagnostic score combining dermoscopy and RCM. METHODS: In total, 120 in situ melanoma and 213 nevi (test set) were retrospectively analysed to assess the presence of dermoscopic and RCM criteria. Facial and acral lesions were excluded. Spearman's correlation, univariate and multivariate regression models were used to identify features significantly correlated with in situ melanoma diagnosis. Multivariate results on the test set allowed the development of a multistep algorithm, that was tested on a validation set of 100 lesions. RESULTS: The dermoscopic findings of an atypical network and regression were independent predicting factors for in situ melanoma diagnosis [odds ratio (OR) 3·44, 95% CI (confidence interval) 1·70-6·97 and OR 4·17, 95% CI 1·93-9·00, respectively]. Significant confocal predictors for malignancy were epidermal pagetoid spread (OR 2·83, 95% CI 1·32-6·04) and junctional cytological atypia (OR 3·39, 95% CI 1·38-8·30 if focal, OR 8·44, 95% CI 3·21-22·16 if widespread). A multistep diagnostic algorithm able to predict in situ melanoma with a sensitivity of 92·5% and a specificity of 61% was developed. The validation set confirmed the high diagnostic value (sensitivity 92%, specificity 58%). CONCLUSIONS: An easy and reproducible multistep algorithm for in situ melanoma detection is suggested, that can be routinely used in tertiary centres.


Assuntos
Dermoscopia/métodos , Melanoma/diagnóstico por imagem , Nevo Pigmentado/diagnóstico por imagem , Neoplasias Cutâneas/diagnóstico por imagem , Adulto , Idoso , Algoritmos , Diagnóstico Diferencial , Estudos de Viabilidade , Feminino , Humanos , Masculino , Melanoma/patologia , Microscopia Confocal , Pessoa de Meia-Idade , Nevo Pigmentado/patologia , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Pele/diagnóstico por imagem , Pele/patologia , Neoplasias Cutâneas/patologia
17.
J Eur Acad Dermatol Venereol ; 32(9): 1461-1468, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29356164

RESUMO

BACKGROUND: Ingenol mebutate (IngMeb) 0.015% gel is an approved field treatment option for non-hyperkeratotic non-hypertrophic actinic keratosis (AK) of face and scalp. Efficacy of IngMeb has been assessed only on a clinical ground, in the majority of studies. Dermoscopy is a pivotal tool for the diagnosis of AK, while its role in evaluating the response to non-surgical therapies for AK has not been fully defined. OBJECTIVES: Our study aims to determine whether some dermoscopic features of AK of the face and scalp areas may independently predict the response to IngMeb therapy. METHODS: Clinical and dermoscopic responses, 1 month after 0.015% IngMeb therapy, were retrospectively evaluated using a per-patient and per-lesion approach. Safety was evaluated through local skin reaction composite score calculation. Demographic, clinical and dermoscopic factors were then evaluated via univariate and multivariate logistic regression analysis to assess independent predictors of response. RESULTS: Fifty-five patients with 245 AKs were enrolled. Clinically, per-patient response evaluation identified 25 (45.4%) poor/partial and 30 (54.5%) complete responders, corresponding on a per-lesion approach to 66 (26.9%) and 179 (73.1%) AKs, respectively. Dermoscopy reclassified 14 patients in the per-patient and 48 AKs in the per-lesion analysis from complete to poor/partial responders. Multivariate logistic regression analysis showed that AKs dermoscopically characterized by red pseudonetwork and located on the face were independently associated with a complete dermoscopic response to 0.015% IngMeb therapy, while microerosions were negative predictors. CONCLUSION: Specific dermoscopic features of AK may predict the response to 0.015% IngMeb therapy, together with the location on the face.


Assuntos
Antineoplásicos/uso terapêutico , Dermoscopia , Diterpenos/uso terapêutico , Ceratose Actínica/diagnóstico por imagem , Ceratose Actínica/tratamento farmacológico , Administração Cutânea , Idoso , Idoso de 80 Anos ou mais , Antineoplásicos/administração & dosagem , Diterpenos/administração & dosagem , Eritema/induzido quimicamente , Dermatoses Faciais/diagnóstico por imagem , Dermatoses Faciais/tratamento farmacológico , Feminino , Géis , Humanos , Masculino , Valor Preditivo dos Testes , Estudos Retrospectivos , Dermatoses do Couro Cabeludo/diagnóstico por imagem , Dermatoses do Couro Cabeludo/tratamento farmacológico , Resultado do Tratamento
18.
J Eur Acad Dermatol Venereol ; 32(6): 940-946, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29125708

RESUMO

BACKGROUND: Nevi of special sites encompass a class of benign lesions characterized by the presence of atypical clinical and histopathological features that can be difficult to distinguish from melanoma. Dermoscopy and reflectance confocal microscopy may improve the clinical assessment of melanocytic lesions to avoid unnecessary excisions. OBJECTIVES: The aim of this study was to assess the value of specific dermoscopic and confocal criteria in distinguishing melanomas from nevi of the breast area. METHODS: Dermoscopic and confocal images from consecutive patients with at least one clinically and/or dermoscopically equivocal melanocytic skin lesion of the breast area were retrospectively evaluated. In this case-control study, only histopathologically proven melanomas (cases) and nevi (controls) were included. Spearman's coefficients were first calculated to flag significant correlation; then univariate and multivariate logistic regression analyses were performed to assess which factors were independently associated with the histopathological diagnosis. Finally, a mixed dermoscopic/confocal score was created to distinguish nevi from melanomas on the breast area. RESULTS: The study population included 55 skin lesions of the breast area, 34 (61.8%) nevi and 21 (38.2%) melanomas. Among dermoscopic criteria, atypical network and irregular pigmentation resulted independently associated with melanoma diagnosis (OR: 11.1; 95% CI 1.0-119.9; P:0.048 and OR: 6.5; 95% CI 1.1-37.5; P:0.037, respectively). Furthermore, on RCM examination, the presence of pagetoid cells was an independent positive predictor for melanoma (OR: 38.5; 95% CI 3.9-379.6; P:0.002). The mixed score showed high levels of sensitivity and specificity, 95.2% and 82.4%, respectively, which were higher than dermoscopic and confocal evaluations alone. CONCLUSION: The combined use of dermoscopy and confocal microscopy in the triage of pigmented lesions of the breast area may help in increasing the diagnostic accuracy and avoiding unnecessary excisions.


Assuntos
Dermoscopia/métodos , Melanoma/diagnóstico , Microscopia Confocal/métodos , Nevo/diagnóstico , Neoplasias Cutâneas/diagnóstico , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
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