Chylothorax originating in a patient with Schimmelpenning syndrome is rare and poses a problem in diagnosis and treatment. A 22-year-old male was admitted with dyspnea indicative of a large pleural chylous effusion. Besides conservative dietary treatment measures, the chylous effusion was drained (2,000 mL/day). Computed tomography-lymphography after ligation of the thoracic duct and pleurectomy revealed a small collateral flow of chylous fluid toward the chest wall and entering the thorax. Eventually, local radiation therapy with 36 Gy effectively treated the chylothorax. Five months later, an epitheloid angiosarcoma developing from a preexisting cutaneous lesion was detected and treated by surgical resection.
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http://dx.doi.org/10.1055/s-0034-1394162 | DOI Listing |
World J Exp Med
December 2024
Department of Diagnosis in Pathology and Oral Medicine, Faculty of Dentistry, Universidad de la República, Montevideo 1600, Uruguay.
The association between genetic syndromes and odontogenic tumors encompasses several entities, reflecting the intricate interplay between genetic factors and the development of these lesions. The present study aimed to comprehensively investigate the associations between genetic syndromes and odontogenic tumors. We delineated the diverse spectrum of syndromic connections, including key syndromes such as Gardner syndrome, Gorlin syndrome, Schimmelpenning syndrome, and others.
View Article and Find Full Text PDFPediatr Dermatol
December 2024
Department of Dermatology and Allergology, ERN-Skin Reference Center, Skin and Allergy Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
We report a patient with clinically confirmed Schimmelpenning-Feuerstein-Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.
View Article and Find Full Text PDFMedicina (Kaunas)
October 2024
Department of Neurology and Neurosurgery, Riga Stradins University, 1007 Riga, Latvia.
Schimmelpenning syndrome, or epidermal nevus syndrome, is a rare, neurocutaneous disorder characterized by skin abnormalities, such as epidermal nevi, and involvement of the central nervous system, including intracranial tumors. There are only a few reported cases of intracranial tumors associated with Schimmelpenning syndrome. In most cases, a single nucleotide mutation in the RAS family proto-oncogenes, like or genes, can result in the genetic mosaicism that is responsible for the clinical manifestations of this syndrome.
View Article and Find Full Text PDFInt J Surg Case Rep
April 2024
Maxillofacial Surgery Department, Lyon Croix Rousse Hospital, 103 Grande rue de la Croix Rousse, 69004 Lyon, France.
Introduction And Importance: Cricothyroidotomy is often the last resort when conventional ventilation devices prove ineffective. The conventional procedure that involves several steps and requires the completion of a preoperative checklist. This report describes a novel approach to cricothyroidotomy, allowing quick access to the cricothyroid membrane in fewer steps.
View Article and Find Full Text PDFEndocrinol Metab (Seoul)
April 2024
Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan.
Fibroblast growth factor 23 (FGF23) is a pivotal humoral factor for the regulation of serum phosphate levels and was first identified in patients with autosomal dominant hypophosphatemic rickets and tumor-induced osteomalacia (TIO), the most common form of acquired FGF23-related hypophosphatemic rickets/osteomalacia (FGF23rHR). After the identification of FGF23, many other inherited and acquired forms of FGF23rHR were reported. In this review article, the detailed features of each acquired FGF23rHR are discussed, including TIO, ectopic FGF23 syndrome with malignancy, fibrous dysplasia/McCune-Albright syndrome, Schimmelpenning-Feuerstein-Mims syndrome/cutaneous skeletal hypophosphatemia syndrome, intravenous iron preparation-induced FGF23rHR, alcohol consumption-induced FGF23rHR, and post-kidney transplantation hypophosphatemia.
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