Individuals with NF1 are predisposed to the development of peripheral nerve sheath tumors (neurofibromas and malignant nerve sheath tumors), astrocytomas (optic pathway gliomas), learning disabilities, seizures, strokes, patches of skin hyperpigmentations (cafe-au-lait spots), axillary freckling, Lisch...
Neurofibromatosis Type 1 (NF1) is a multisystemic disease, manifesting as abnormalities ofthe nervous tissue, bones, soft tissue, and skin. The entity is dominantly inherited and affects 1in 4000 individuals. Cafe-au-lait spots, peripheral neurofibromas, Lisch nodules and axillaryfreckling are the...
Individuals with NF1 are predisposed to the development of peripheral nerve sheath tumors (neurofibromas and malignant nerve sheath tumors), astrocytomas (optic pathway gliomas), learning disabilities, seizures, strokes, patches of skin hyperpigmentations (cafe-au-lait spots), axillary freckling, Lisch...
In addition to the classic skin manifestations of NF1 (café-au-lait spots, freckling, and neurofibromas), the presence of other manifestations such as nevus anemicus and juvenile xanthogranuloma may be of high predictive value in patients with an uncertain diagnosis. Localized or mosaic NF1, ...
Cafe-Au-Lait Spots (6 or more in 100% of cases) Pre-Puberty: >5 mm greatest diameter Post-Puberty: >15 mm greatest diameter Axillary or inguinalFreckles(2-3 mm diameter) IrisLischNodules (2 or more) Hamartomas on iris (Slit Lampexam) ...
Table 1. Diagnostic criteria for NF1 The patient should have two or more of the following: 1. Six or more café-au-lait spots 1.5 cm or larger in post-pubertal individuals 0.5 cm or larger in pre-pubertal individuals 2. Two or more neurofibromas of any type or one or more plexiform ...
By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). We used a multistep proce
Individuals with NF1 are predisposed to the development of peripheral nerve sheath tumors (neurofibromas and malignant nerve sheath tumors), astrocytomas (optic pathway gliomas), learning disabilities, seizures, strokes, patches of skin hyperpigmentations (cafe-au-lait spots), axillary freckling, Lisch...
The offspring of an affected individual have a 50% risk of inheriting the altered NF1 gene. The disease manifestations are extremely variable, even within a family. NF1 is characterized by multiple cafe au lait spots, axillary and inguinal freckling, multiple discrete dermal neurofibromas, and ...
The major clinical manifestations are cafe´-au-lait spots, axillary and inguinal freckling, multiple dermal and plexiform neurofibromas, and iris Lisch nodules. However, affected individuals may have any of a wide range of additional features including scoliosis, bone abnormalities, short stature, ...