Publications by authors named "Escandell I"
Article Synopsis
- Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a rare genetic condition linked to mutations in the FH gene, with a prevalent mutation identified in a large cohort from Spain.
- The study confirmed that a common variant, FH c.1118A > G p.(Asn373Ser), likely originated from a single ancestor 12-26 generations ago, causing specific health issues such as uterine leiomyomatosis and renal cell cancer in affected individuals.
- In Alicante, Spain, this founder mutation is prevalent, and genetic testing for this specific mutation is suggested as a more efficient diagnostic method than full gene sequencing for those suspected of having HLRCC.
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancers (RCCs). We aimed to describe the genetics, clinical features and potential genotype-phenotype associations in the largest cohort of fumarate hydratase enzyme mutation carriers known from Spain using a multicentre, retrospective study of individuals with a genetic or clinical diagnosis of HLRCC. We collected clinical information from medical records, analysed genetic variants and looked for genotype-phenotype associations.
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- Trichostasis spinulosa is a rare skin condition affecting hair follicles, leading to the accumulation of dormant (telogen) hairs.
- It is noticeable when formations of hair tufts protrude from these enlarged follicles.
- The case discussed involves trichostasis spinulosa linked with benign pigmented skin lesions (intradermal melanocytic nevi), and dermoscopy is used to diagnose the condition effectively.
Approaches to treating melanoma have changed radically since the introduction of immunotherapy, and survival figures are now higher than possible with earlier therapies. The immunomodulators currently available mainly block CTLA-4 (cytotoxicT lymphocyte-associated molecule-4) and PD-1 (programed cell death protein 1) translocated to the cell surface, where they inhibit the antitumor immune response. Treatments blocking these molecules are being more widely used.
View Article and Find Full Text PDFIntroduction And Objectives: It has been suggested that patients who have had a melanoma may develop increased immunity against certain antigens expressed by tumor-associated melanocytes. Thus our objective was to review the records of patients with successive primary melanomas to ascertain whether the pattern of regression might indicate the presence of an immunization effect arising from the first melanoma.
Material And Methods: A review of all the cases recorded in the melanoma database of our dermatology department between 2000 and 2012 identified 19 patients who had multiple asynchronous melanomas (2.