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Melanoma is an aggressive type of skin cancer that arises from melanocytes, the cells responsible for producing skin pigment. In contrast to non-melanoma skin cancers like basal cell carcinoma and squamous cell carcinoma, melanoma is more invasive. Melanoma was distinguished by its rapid progression, high metastatic potential, and significant resistance to conventional therapies.
View Article and Find Full Text PDFGriscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.
Turk J Pediatr
November 2024
Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Türkiye.
Background: Griscelli syndrome (GS) is a rare genetic disorder characterized by oculocutaneous albinism and variable immune dysfunction. Among three distinct types of GS, occurring due to different genetic mutations; GS type 1 presents with neurological manifestations, hemophagocytic lymphohistiocytosis (HLH) generally develops in GS type 2, and GS type 3 primarily exhibits oculocutaneous albinism. HLH, a life-threatening condition with excessive immune activation, may occur secondary to various triggers, including infections, and develop in different tissues, as well as in the testis, similar to Erdheim-Chester disease.
View Article and Find Full Text PDFOchronotic Arthropathy and Alkaptonuria (Ochronosis): Case Report.
Rev Bras Ortop (Sao Paulo)
November 2024
Departamento de Ciências da Saúde, Centro de Ciências Biológicas e da Saúde (CCBS), Universidade Federal Rural do Semi-Árido (Ufersa), Mossoró, RN, Brasil.
Alkaptonuria (AKU) is a rare genetic condition resulting from a deficiency in the homogentisic acid oxidase enzyme, which is produced by the liver and kidneys, that interferes with the metabolism of the amino acids phenylalanine and tyrosine. Although it may not cause symptoms, AKU can lead to ochronosis, the abnormal accumulation in body tissues of a pigment called alkapton. Over time, this pigment accumulation in the joints may result in secondary osteoarthritis known as ochronotic arthropathy, the most debilitating form of the disease.
View Article and Find Full Text PDFDematiaceous Molds.
Infect Dis Clin North Am
December 2024
Division of Infectious Diseases, Department of Medicine, Albert Einstein College of Medicine and Montefiore Medical Center, 1300 Morris Park Avenue, Belfer 610, Bronx, NY 10461, USA. Electronic address:
Article Synopsis
- Dematiaceous molds are dark environmental molds found worldwide, particularly in tropical and subtropical areas, with common types including Bipolaris, Cladophialophora, Exophiala, and Alternaria.
- These molds can cause a variety of diseases in both healthy and immunocompromised individuals, leading to issues like skin infections, allergic reactions, pneumonia, and sometimes serious systemic infections.
- Treatment generally involves antifungal medications such as itraconazole, voriconazole, or posaconazole, combined with measures to address the source of infection and reduce immune suppression, while efforts are underway to enhance diagnostic methods and treatment options due to high mortality rates associated with severe cases.
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