While the study of genetic diseases is a rather recent development in science, von Recklinghausen's neurofibromatosis (NF1) has a rich pictorial history, seemingly dating back to the thirteenth century. In 1768, Akenside published a scientifically-based description of NF1, recognizing that the monsters of scholars, such as Parè and Aldrovandi, in fact suffered from a disorder of the nerves. The neuromas of NF1 were first detailed by Smith in 1849, but Frederick von Recklinghausen is credited with its discovery and coined the name of the disorder in 1882. NF1 research widely increased between 1909 and 1990, due to the erroneous diagnosis of the Elephant Man, Joseph Merrick.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1080/09647041003642885 | DOI Listing |
Biomed Rep
February 2025
Department of Breast Surgery, Affiliated Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang Uyghur Autonomous Region 830000, P.R. China.
Neurofibromatosis type 1 (NF1), which is also known as von Recklinghausen's disease, is a multisystem genetic disease that is principally associated with cutaneous, neurologic and orthopedic manifestations. The present case report described an unusual case with a giant cutaneous neoplasm on the right breast skin of a 36-year-old female who was admitted to the Department of Breast Surgery at the Affiliated Tumor Hospital of Xinjiang Medical University (Urumqi, China). Skin mass excision was performed and histopathology confirmed the diagnosis of thoracic plexiform neurofibroma as a primary presentation of NF1.
View Article and Find Full Text PDFSurg Case Rep
November 2024
Division of Hepato-Biliary-Pancreatic Surgery, Shizuoka Cancer Center, Shizuoka, Japan.
Cureus
October 2024
Department of Emergency and Critical Care Medicine, ECMO Center, Tokyo Metropolitan Tama Medical Center, Tokyo, JPN.
Cureus
July 2024
Oral and Maxillofacial Surgery, VSPM (Vidya Shikshan Prasarak Mandal) Dental College and Research Centre, Nagpur, IND.
Neurofibromatosis is a group of genetic disorders that primarily impact the growth of neural tissues, leading to multiple tumors on nerve tissues in the brain, spinal cord, and peripheral nerves. As an autosomal dominant condition, it involves mutations in the neurofibromatosis type 1 (NF1) tumor-suppressor gene, inherited in a recessive manner. Plexiform neurofibroma is a rare manifestation.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!