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26 apr 2024 · Neurofibromatosis, or von Recklinghausen disease, is characterized by congenital anomalies (often benign tumors) of the skin, nervous system, bones, and endocrine glands. Only 1% of patients with...
13 mag 2024 · Neurofibromatosis is an autosomal dominant disorder caused by a mutation in the NF1 gene that codes for the neurofibromin protein that typically presents with skin lesions, lower and upper extremity deformities, and spinal involvement.
5 giorni fa · As early as 1882, Von Recklinghausen described neurofibromatosis as a neuro-dermatological disease. In 1983, I Vujic, RD Sbrocchi, et al. demonstrated angiographically that there can be neurofibromas in the gastro-intestinal tract from the jejunum to the distal ileum. 1 Though clinical characteristics were described long back in the form of skin neurofibromas, café au lait spots, leish ...
14 mag 2024 · Some osteodysplastic syndromes are due to an anarchic tissue development (enchondromatosis, Maffucci syndrome, fibrous dysplasia); some other diseases are phacomatoses (Recklinghausen disease, Bourneville disease). Rare hamartomatous anomalies with involvement of the skeleton fall into this group.
2 mag 2024 · Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant genetic disorder that primarily causes the growth of tumors along nerves. It is one of the most frequent hereditary conditions, occurring in about 1 in every 3000–4000 individuals worldwide.
3 giorni fa · Nijmegen breakage syndrome, also known as Seemanova syndrome or Berlin breakage syndrome , is a rare autosomal recessive syndrome of chromosomal instability. Clinical presentation. microcephaly present at birth and. progressive with age. dysmorphic facial features. mild growth restriction/delay. mild-to-moderate intellectual disability.
1 mag 2024 · Von Recklinghausen's disease or neurofibromatosis type I (NF1) is the most common phacomatosis [1]. It is a relatively common genetic disease. The ophthalmological manifestations of type I neurofibromatosis are many and varied.
