Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 21
Filter
Add more filters

Country/Region as subject
Affiliation country
Publication year range
1.
Clin Immunol ; 191: 44-51, 2018 06.
Article in English | MEDLINE | ID: mdl-29572183

ABSTRACT

There is scarce literature about autoinflammation in syndromic patients. We describe a patient who, in addition to psychomotor and growth delay, presented with fevers, neutrophilic dermatosis, and recurrent orogenital ulcers. Comparative Genomic Hybridization (CGH) array permitted to identify a 13.13Mb deletion on chromosome 6, encompassing 53 genes, and including TNFAIP3 gene (A20). A20 is a potent inhibitor of the NF-kB signalling pathway and restricts inflammation via its deubiquitinase activity. Western blotting and immunoprecipitation assays showed decreased A20 expression and increased phosphorylation of p65 and IkBa. Patient's cells displayed increased levels of total K63-linked ubiquitin and increased levels of ubiquitinated RIP and NEMO after stimulation with TNF. We describe the molecular characterization of an autoinflammatory disease due to a large chromosomal deletion and review the phenotypes of patients with A20 haploinsufficiency. CGH arrays should be the first diagnostic method for comprehensive analysis of patients with syndromic features and immune dysregulation.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 6 , Haploinsufficiency/genetics , Inflammation/etiology , Tumor Necrosis Factor alpha-Induced Protein 3/genetics , Cells, Cultured , Child , Comparative Genomic Hybridization , Humans , Male , NF-kappa B/physiology
2.
Cancers (Basel) ; 16(1)2024 Jan 03.
Article in English | MEDLINE | ID: mdl-38201654

ABSTRACT

Mucosal melanoma (MM) is an uncommon melanoma subtype affecting mucosal surfaces of the head and neck, anorectal region, and vulvovaginal area. We aimed to present our experience at a tertiary-level hospital regarding MM diagnosis, management, monitoring of progression, mutations, and outcome predictors. We performed a registry-based cohort study including MM cases diagnosed from 2012 to 2022 and retrospectively characterized somatic mutations on BRAF, NRAS and c-KIT. We employed Kaplan-Meier curves, log-rank tests, and Cox regression analysis to explore prognostic factors and survival outcomes in a cohort of 35 patients, mainly women (63%) with a median age of 70 years. Predominantly, MM occurred in the vulvovaginal region (48.6%). At diagnosis, 28.6% had lymph node involvement, and 31.4% also had distant metastasis. Mutations in BRAF and c-KIT were identified in 3/35 (9%) and 2/6 patients (33%), respectively. Surgery was performed in 71.4% of patients, and most received systemic treatment (65.7%). Lower disease stage, thinner Breslow depth, and surgical resection were associated with improved overall survival. Notably, age, sex, radiotherapy, and BRAF mutant status did not affect survival. Standard management typically involves immunotherapy. Cases with BRAF or c-KIT mutations may be considered for targeted therapies. Unfortunately, MM prognosis remains unfavorable, with a less than 50% survival rate at 2 years.

3.
Rev Esp Patol ; 55(2): 139-144, 2022.
Article in Spanish | MEDLINE | ID: mdl-35483770

ABSTRACT

Lipoblastoma-like tumor of the vulva (LBLTV) was first described as a benign mesenchymal neoplasia; it was not recognized as a separate diagnosis in the 2013 WHO classification of soft-tissue tumors. To date, only 19 cases have been reported. LBLTV differential diagnosis includes other tumors of the vulvoperineal region and tumors with adipocytic differentiation, most of which are benign and thus a misdiagnosis has few clinical consequences. However, LBLTV may also mimic some aggressive lipomatous neoplasms. We describe a case of LBLTV in a 28 year-old woman and review the literature.


Subject(s)
Lipoblastoma , Neoplasms, Adipose Tissue , Soft Tissue Neoplasms , Vulvar Neoplasms , Adult , Diagnosis, Differential , Female , Humans , Lipoblastoma/diagnosis , Lipoblastoma/pathology , Neoplasms, Adipose Tissue/pathology , Soft Tissue Neoplasms/pathology , Vulvar Neoplasms/diagnosis , Vulvar Neoplasms/pathology
4.
BMJ Case Rep ; 14(1)2021 Jan 28.
Article in English | MEDLINE | ID: mdl-33509865

ABSTRACT

Drug-induced sarcoidosis-like reactions (DISRs) are systemic granulomatous diseases that develop in the context of a new drug onset. Ipilimumab is an immune checkpoint inhibitor (ICI) approved for the treatment of advanced melanoma which has been associated with DISR. Differential diagnosis between tumour progression and DISR by positron emission tomography/computed tomography (PET/CT) in patients treated with an ICI can be a challenge. A 31-year-old woman was diagnosed with a stage IIIB melanoma in her back. Ipilimumab 10 mg/kg was initiated. After 1 month of finishing the treatment a routine, PET/CT showed multiple enlarged mediastinal and hilar lymph nodes FDG-positive. A transbronchial biopsy showed sarcoid-like granulomatous infiltration which favoured the diagnosis of DISR related to ipilimumab. The patient remained asymptomatic and lymphadenopathy regressed progressively after 11 months. Our work highlights the importance of differentiating DISR from tumour progression, before unnecessary changes in therapeutic strategies. PET/CT is a useful diagnostic tool for its follow-up.


Subject(s)
Granuloma/chemically induced , Immune Checkpoint Inhibitors/adverse effects , Ipilimumab/adverse effects , Lymphadenopathy/chemically induced , Melanoma/drug therapy , Skin Neoplasms/drug therapy , Adult , Back , Biopsy , Diagnosis, Differential , Disease Progression , Female , Fluorodeoxyglucose F18 , Granuloma/diagnostic imaging , Granuloma/pathology , Humans , Lymph Nodes/diagnostic imaging , Lymph Nodes/pathology , Lymphadenopathy/diagnostic imaging , Lymphadenopathy/pathology , Mediastinum , Melanoma/diagnostic imaging , Melanoma/pathology , Neoplasm Staging , Positron Emission Tomography Computed Tomography , Radiopharmaceuticals , Skin Neoplasms/pathology
5.
J Clin Med ; 9(11)2020 Oct 23.
Article in English | MEDLINE | ID: mdl-33113930

ABSTRACT

The incidence of melanoma has been increasing worldwide during recent decades. The objective of the study was to analyse the trends in incidence for in situ and invasive melanoma in the Spanish region of Catalonia during the period of 2008-2017. We designed a cross-sectional study with an age-period-cohort analysis of melanoma patient data from the Network of Melanoma Centres in Catalonia. Our database covered a population of over seven million and included a total of 8626 patients with incident melanoma. The main outcome measures were crude and age-standardised incidence rates to the European 2013 standard population. Joinpoint regression models were used to evaluate the population trends. We observed an increase in the age-standardised incidence rate (per 100,000 population) of all melanoma subtypes from 11.56 in 2008 to 13.78 in 2017 with an average annual percent change (AAPC) of 3.5%. This incidence increase was seen exclusively in the older population. Moreover, the stratified analysis showed a statistically significant increase in the age-standardised incidence rate for invasive (AAPC 2.1%) and in situ melanoma (AAPC 6.5%). In conclusion, the incidence of melanoma has continued to increase in the elderly population over recent decades, with a rapidly increasing trend of in situ melanomas and the lentigo maligna subtype.

8.
Int J Dermatol ; 58(5): 577-581, 2019 May.
Article in English | MEDLINE | ID: mdl-30548854

ABSTRACT

BACKGROUND: Recent epidemiological studies suggest that past data where superficial spreading melanoma was by far the most common subtype of melanoma may not reflect current patterns of sun exposure or other risk factors more involved in other subtypes of melanoma as lentigo maligna (LM) or lentigo maligna melanoma (LMM). METHODS: In order to measure the current situation in our country, all cases of LM and LMM diagnosed in 23 hospitals in Catalonia, from 2000 to 2007, were recorded. RESULTS: Although for the global period LM/LMM represented only 8.4% of cases, an increasing trend in this percentage was observed throughout the study period (from 6.9% [27 cases] in 2000 to 13.1% [94 cases] in 2007). Also, an increasing incidence of LM/LMM was observed, especially in chronically sun-exposed areas (85.5% involving the head and neck region). During the 8 years of the registry, the mean Breslow thickness of LMM remained stable. However, the increase in the number of LM (in situ) cases was significantly higher than the increase of the invasive ones. CONCLUSIONS: An important observation from this data is that aging of population and current sun exposure patterns could keep increasing the incidence of LM/LMM, which may become an important public healthcare problem, over the other histological subtypes. In order to establish primary or secondary preventive measures to the LM/LMM risk-population, it is imperative to highlight the importance of chronic sun damage as a melanoma risk factor, and not only sunburn, most commonly addressed in melanoma prevention campaigns.


Subject(s)
Hutchinson's Melanotic Freckle/epidemiology , Skin Neoplasms/epidemiology , Adult , Age Factors , Aged , Aged, 80 and over , Female , Humans , Incidence , Male , Middle Aged , Spain/epidemiology
10.
Pediatr Dermatol ; 25(4): 487-8, 2008.
Article in English | MEDLINE | ID: mdl-18789100

ABSTRACT

Juvenile xanthogranuloma is a benign, self-healing disorder with characteristic lesions mainly involving the skin. Although most patients with juvenile xanthogranuloma have only cutaneous symptoms, recent articles have documented extracutaneous manifestations: systemic involvement of many organs has been reported and there is a known association between juvenile xanthogranuloma and childhood leukemia, most commonly juvenile chronic myelogenous leukemia. This case provides further corroboration, that in rare instances, juvenile xanthogranuloma may be associated with hematologic malignancies.


Subject(s)
Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Xanthogranuloma, Juvenile/complications , Child, Preschool , Humans , Male , Recurrence , Xanthogranuloma, Juvenile/pathology
11.
J Am Acad Dermatol ; 56(2 Suppl): S41-4, 2007 Feb.
Article in English | MEDLINE | ID: mdl-17097370

ABSTRACT

Benign lymphangiomatous papules of the skin are considered reactive lymphatic proliferations either caused by disruption of the lymphatic flow or tissue damage produced by operation or radiation therapy. We report a 72-year-old woman with umbilical papules and vesicle-like lesions that led to the diagnosis of a large ovarian fibroma. Histologic study revealed dilated lymphatic spaces manifesting an anastomosing and branched pattern in the papillary and reticular dermis dissecting collagen bundles. The vessels were lined by plump endothelial cells with foci of intravascular papillary endothelial cell hyperplasia. After the ovarian fibroma was removed by laparotomy, umbilical lesions almost disappeared, leaving small flesh-colored papules. A periumbilical dermatosis may herald certain intra-abdominal diseases including those of neoplastic derivation. A heightened awareness of this association may lead to an early diagnosis with a potential for improved patient outcome. Benign lymphangiomatous papules have not been previously described in association with an untreated tumor, without previous operation or radiotherapy. This case advocates for disruption of the lymphatic drainage as the probable pathogenetic mechanism.


Subject(s)
Fibroma/diagnosis , Lymphangioma/pathology , Neoplasms, Multiple Primary/diagnosis , Ovarian Neoplasms/diagnosis , Radiography, Abdominal , Skin Neoplasms/pathology , Tomography, X-Ray Computed , Aged , Female , Fibroma/diagnostic imaging , Fibroma/pathology , Fibroma/surgery , Humans , Immunohistochemistry , Lymphangioma/metabolism , Ovarian Neoplasms/diagnostic imaging , Ovarian Neoplasms/pathology , Ovarian Neoplasms/surgery , Skin Neoplasms/metabolism
12.
Rev. esp. patol ; 55(2): 139-144, abr-jun 2022. tab, ilus
Article in Spanish | IBECS (Spain) | ID: ibc-206786

ABSTRACT

El tumor vulvar similar a lipoblastoma (LBLTV) fue descrito inicialmente como una neoplasia mesenquimal benigna. Desde entonces, se han reportado únicamente 19 casos. Además, esta entidad no ha sido reconocida aún como diagnóstico separado en la clasificación de la OMS (2013) de los tumores de tejido blando. El diagnóstico diferencial de LBLTV incluye otros tumores de la región vulvoperineal, así como tumores con diferenciación adipocítica, la mayoría de ellos benignos. Por tanto, un diagnóstico erróneo aporta pocas consecuencias clínicas. Sin embargo, LBLTV puede imitar también algunas neoplasias lipomatosas agresivas. Describimos aquí un nuevo caso de LBLTV en una mujer de 28 años, así como una revisión de la literatura.(AU)


Lipoblastoma-like tumor of the vulva (LBLTV) was first described as a benign mesenchymal neoplasia; it was not recognized as a separate diagnosis in the 2013 WHO classification of soft-tissue tumors. To date, only 19 cases have been reported. LBLTV differential diagnosis includes other tumors of the vulvoperineal region and tumors with adipocytic differentiation, most of which are benign and thus a misdiagnosis has few clinical consequences. However, LBLTV may also mimic some aggressive lipomatous neoplasms. We describe a case of LBLTV in a 28 year-old woman and review the literature.(AU)


Subject(s)
Humans , Female , Adult , Vulvar Neoplasms , Lipoblastoma/diagnosis , Adipose Tissue/pathology , Vulvar Neoplasms/diagnosis , Women , Adult
13.
Pigment Cell Melanoma Res ; 29(2): 247-53, 2016 Mar.
Article in English | MEDLINE | ID: mdl-26701415

ABSTRACT

Melanoma presents molecular alterations based on its anatomical location and exposure to environmental factors. Due to its intrinsic genetic heterogeneity, a simple snapshot of a tumor's genetic alterations does not reflect the tumor clonal complexity or specific gene-gene cooperation. Here, we studied the genetic alterations and clonal evolution of a unique patient with a Nevus of Ota that developed into a recurring uveal-like dermal melanoma. The Nevus of Ota and ulterior lesions contained GNAQ mutations were c-KIT positive, and tumors showed an increased RAS pathway activity during progression. Whole-exome sequencing of these lesions revealed the acquisition of BAP1 and TP53 mutations during tumor evolution, thereby unmasking clonal heterogeneity and allowing the identification of cooperating genes within the same tumor. Our results highlight the importance of studying tumor genetic evolution to identify cooperating mechanisms and delineate effective therapies.


Subject(s)
Head and Neck Neoplasms/genetics , Nevus of Ota/genetics , Skin Neoplasms/genetics , Tumor Suppressor Protein p53/genetics , Tumor Suppressor Proteins/genetics , Ubiquitin Thiolesterase/genetics , Adult , Female , GTP-Binding Protein alpha Subunits, Gq-G11/genetics , Head and Neck Neoplasms/pathology , Humans , Nevus of Ota/pathology , Skin Neoplasms/pathology
17.
Actas Dermosifiliogr ; 97(1): 59-61, 2006.
Article in Spanish | MEDLINE | ID: mdl-16540055

ABSTRACT

We present the case of a male with a neonatal Listeria monocytogenes infection. Its evolution was favorable with intravenous ampicillin and gentamicin. Listeriosis is an infrequent cause of neonatal pustulosis. The infection is acquired from the mother after bacteremia with few symptoms (early-onset forms) or while passing through an infected birth canal (late-onset forms). A cytological study and the quick stain technique make fast diagnosis of potentially serious neonatal pustuloses possible.


Subject(s)
Listeriosis/congenital , Humans , Infant, Newborn , Listeriosis/diagnosis , Listeriosis/drug therapy , Male
SELECTION OF CITATIONS
SEARCH DETAIL