An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
    

concept

Multiple neurofibromatosis (Von Recklinghausen's disease) / Francis Harbitz.

Contribution à l'étude de la neurofibromatose généralisée (maladie de Recklinghausen) ... / par Arthur Jullien.

My amazing twin.

A case of peculiar cutaneous pigmentation, probably an incomplete form of Recklinghausen's disease / by F. Parkes Weber.

Cutaneous pigmentation as an incomplete form of Recklinghausen's disease : with remarks on the classification of incomplete and anomalous forms of Recklinghausen's disease / by F. Parkes Weber.

Neurofibromatosis 1

Catalogue

Multiple neurofibromatosis (Von Recklinghausen's disease) / Francis Harbitz.

Contribution à l'étude de la neurofibromatose généralisée (maladie de Recklinghausen) ... / par Arthur Jullien.

My amazing twin.

A case of peculiar cutaneous pigmentation, probably an incomplete form of Recklinghausen's disease / by F. Parkes Weber.

Cutaneous pigmentation as an incomplete form of Recklinghausen's disease : with remarks on the classification of incomplete and anomalous forms of Recklinghausen's disease / by F. Parkes Weber.