Hair toe tourniquet syndrome (HTTS) is an uncommon pediatric condition occurring when the toe is circumferentially strangulated by human hair or fibers. An 8-week-old little girl was admitted to the Emergency Department because of the worsening swelling in the right second and third toes, which had been been previously treated with a local antibiotic thinking of an infection. An unrecognized HTTS was leading the third toe to necrosis. An urgent release of the constricting band on the two toes was performed and bone erosion and partial flexor tendon lesion on the third toe were detected. We would like to raise awareness in the community and in colleagues about HTTS in children, because early recognition and urgent treatment are mandatory to provide an adequate management and prevent severe complications.
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http://dx.doi.org/10.1155/2014/592323 | DOI Listing |
Front Psychiatry
December 2024
Département de Psychiatrie, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
Mr. X is a Swiss patient with Bainbridge-Ropers syndrome clinically and genetically diagnosed at the age of 28. He is also known to have severe intellectual disability, autism spectrum disorder and epilepsy since the age of 18.
View Article and Find Full Text PDFSemin Pediatr Neurol
December 2024
Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:
Chedíak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder caused by mutations in the Lysosomal Trafficking Regulator (LYST) gene, leading to defective lysosomal function in immune cells, melanocytes, and neurons. Clinically, CHS is characterized by a spectrum of symptoms, including immunodeficiency, partial oculocutaneous albinism, bleeding tendencies, neurodevelopmental deficits and progressive neurodegenerative symptoms. The severity of CHS correlates with the type of LYST mutation: the classic form, linked to nonsense or frameshift mutations, presents early in childhood with severe immune dysfunction, recurrent infections, and a high risk of hemophagocytic lymphohistiocytosis (HLH), a life-threatening hyperinflammatory state.
View Article and Find Full Text PDFBMJ Case Rep
October 2024
Department of Dermatology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.
Cureus
June 2024
Medicine, Facultad de Medicina, Universidad de Panama, Panama, PAN.
Cutaneous pili migrans is a rare and interesting dermatological condition characterized by embedding a hair or its fragment in the epidermis or superficial dermis, sometimes leading to pain and a serpiginous rash. We present a 28-year-old male who came to the clinic concerned about the sudden onset of pain in his foot over 10 hours. Upon meticulous physical examination, we found a white hair embedded in the skin of the fifth toe of his left foot, which the patient immediately recognized as hair from his dog.
View Article and Find Full Text PDFFront Oncol
July 2024
Danish Centre for Particle Therapy, Aarhus University Hospital, Aarhus, Denmark.
Objective: A favorable effect of ultra-high dose rate (FLASH) radiation on normal tissue-sparing has been indicated in several preclinical studies. In these studies, the adverse effects of radiation damage were reduced without compromising tumor control. Most studies of proton FLASH investigate these effects within the entrance of a proton beam.
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