Results 11 to 20 of about 24,057 (201)
Neurofibromatosis type I (NF1) and bone involvement in a pediatric setting: insights from FGF23 levels [PDF]
Italian Journal of PediatricsBackground Neurofibromatosis type I (NF1) is an autosomal dominant disorder characterized by extremely different phenotypes, sometimes including reduced bone mass.
Giulia Rodari +14 more
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Early presentation of neurofibromatosis type I patient with clitoromegaly and café au lait spots: A case report [PDF]
Radiology Case Reports, 2022 Neurofibromatosis is a rare genetic disorder that typically affects the nerves and causes benign tumors. It also affects different parts of the body, including the bone, skin, and genitourinary system. We report a case of a 6-year-old girl medically free
Ayman Khushaim, MD +2 more
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Bioethical aspects in type I neurofibromatosis [PDF]
Romanian Journal of Pediatrics, 2021 Type I neurofibromatosis is one of the most common monogenic disorders, being caused by abnormalities of the neurofibromin gene on chromosome 17. About half of the cases are inherited, respecting the autosomal dominant inheritance criteria, the rest are ...
Codruta Diana Petchesi +4 more
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Facial Plexiform Neurofibromatosis Type I
Bengal Journal of Otolaryngology and Head Neck Surgery, 2020 Introduction Plexiform neurofibroma is a benign tumor of peripheral nerves arising from a proliferation of all neural elements. Clinically, it presents as a subcutaneous mass which feels like a "bag of worms".
Bapan Devnath, Debraj Dey, Avinava Ghosh
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A CASE OF NEUROFIBROMATOSIS TYPE 1 [PDF]
Journal of IMAB, 2008 Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuroectodermal tumors arising within multiple organs and autosomal-dominant inheritance.
Valentina Dimitrova +6 more
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Clinical Masks of Neurofibromatosis Type 1
Архивъ внутренней медицины, 2022 Neurofibromatosis type 1 is the most common autosomal dominant tumor syndrome. The prevalence of the disease is 1 in 3000 people. Neurofibromatosis type 1 is characterized by the gradual appearance of signs of the disease and pronounced clinical ...
R. N. Mustafin
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Ibom Medical Journal, 2022 Plexiform neurofibromatosis is reported to occur in 26.7% of patients with type I neurofibromatosis. Plexiform neurofibromas present at, or soon after, birth as areas of hyperpigmentation, thickening of the skin and excess hair.
Udeagu GC, Njeze NR, Ukwuaku CC
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Epithelioid sarcoma associated with neurofibromatosis type I [PDF]
Archives of Craniofacial Surgery, 2020 In general, patients with neurofibromatosis type I have a higher risk than those with other types of neurofibromatosis of developing soft-tissue sarcomas related to the nervous system. We here present a 42-year-old man with neurofibromatosis type I who developed a protruding mass over only 2 weeks.
Sung Oh Hwang +2 more
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Giant intrthoracic meningoceles associated with cutaneous neurofibromatosis type I: case report [PDF]
Arquivos de Neuro-Psiquiatria, 2003 BACKGROUND: Intrathoracic meningocele is a rare pathology, almost always associated with neurofibromatosis type I and with a few cases related in the literature.
Guilherme Cabral de Andrade +5 more
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Neurofibromatosis type I: points to be considered by general pediatricians [PDF]
Clinical and Experimental Pediatrics, 2021 Neurofibromatosis type 1 (NF1), a prevalent genetic disease that is transmitted in an autosomal dominant manner, is characterized by multiple cutaneous café-au-lait spots and neurofibromas as well as various degrees of neurological, skeletal, and ...
Eungu Kang, Hee Mang Yoon, Beom Hee Lee
doaj +1 more source