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In Situ Protein Expression Analysis of Melanocyte Differentiation Antigen TRP1 (Tyrosinase-Related Protein-1).
Am J Dermatopathol
September 2024
Departments of Pathology, and.
Melanocyte differentiation antigens refer to molecules expressed in cells of melanocytic lineage such as gp100/PMEL, tyrosinase, and Melan-A. Corresponding antibodies such as HMB45, T311, and A103 have become key immunohistochemical tools in surgical pathology for the diagnosis of pigmented and related lesions. Little is known about tyrosinase-related protein 1 (TRP1), another melanocyte differentiation antigen, which is an enzymatic component of melanogenesis and known as the brown locus in mice.
View Article and Find Full Text PDFBirt-Hogg-Dubé syndrome presenting with bilateral pneumothorax, skin, kidney, liver, and brain lesions.
J Family Med Prim Care
May 2024
Department of Respiratory Medicine, Kasturba Chest Hospital, King George's Medical University, Lucknow, Uttar Pradesh, India.
Article Synopsis
- Birt-Hogg-Dubé syndrome (BHDS) is a rare genetic disorder that leads to benign skin growths, lung cysts, and a higher chance of lung collapse (pneumothorax) and kidney cancer.
- A case study of a young Indian boy highlighted how bilateral pneumothorax was the first sign of BHDS, alongside various other complications like facial lesions and kidney abnormalities detected through imaging.
- Recognizing these symptoms as part of BHDS is crucial for primary care physicians, as it allows for proper management and timely referrals to specialized medical centers.
[Genetic diffuse cystic lung disease in adults].
Rev Mal Respir
January 2024
UMR754, INRAE, ERN-LUNG, service de pneumologie, centre de référence coordonnateur des maladies pulmonaires rares (OrphaLung), hôpital Louis-Pradel, Hospices civils de Lyon, université Lyon 1, Lyon, France. Electronic address:
Multiple cystic lung diseases comprise a wide range of various diseases, some of them of genetic origin. Lymphangioleiomyomatosis (LAM) is a disease occurring almost exclusively in women, sporadically or in association with tuberous sclerosis complex (TSC). Patients with LAM present with lymphatic complications, renal angiomyolipomas and cystic lung disease responsible for spontaneous pneumothoraces and progressive respiratory insufficiency.
View Article and Find Full Text PDFCutaneous Angiomyolipoma-A Distinct Entity That Should Be Separated From Classic Angiomyolipoma: Complete Review of Existing Cases and Defining Fundamental Features.
JMIR Dermatol
September 2022
DIGIPATH: Digital Pathology Laboratory, Mexico City, Mexico.
Cutaneous angiomyolipoma is a rare mesenchymal tumor that is demographically, clinically, and immunohistochemically distinct from its renal and extrarenal counterparts. We present a case of cutaneous angiomyolipoma in the right retroauricular area of a 35-year-old male patient and provide a broad systematic review of the literature and the largest compilation of cutaneous angiomyolipomas reported to date. According to the findings presented in this review, we conclude that cutaneous angiomyolipoma should be completely separated from renal and extrarenal angiomyolipomas and therefore be considered a distinct entity in the classification of skin tumors.
View Article and Find Full Text PDFPeriorbital cutaneous angiomyolipoma: a case report.
Arch Craniofac Surg
April 2023
Department of Plastic and Reconstructive Surgery, Chosun University College of Medicine, Gwangju, Korea.
Angiomyolipomas are usually found in the kidneys of patients with tuberous sclerosis. They occur less frequently in organs such as the liver, the oral cavity, the nasal cavity, the heart, the large intestines, and the lungs. Angiomyolipomas of the skin are extremely rare, and cutaneous angiomyolipomas generally occur on the elbow, the ends of digits, the ear, and the glabella.
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