Neurofibromatosis 1


Cafe au Lait Spots with Pulmonic Stenosis

Cafe-au-Lait Spots with Pulmonic Stenosis

Molluscum Fibrosum

NF1 (Neurofibromatosis 1)

Neurofibromatoses, Peripheral

Neurofibromatoses, Type I

Neurofibromatosis I

Neurofibromatosis Type 1

Neurofibromatosis Type I

Neurofibromatosis, Peripheral

Neurofibromatosis, Peripheral Type

Neurofibromatosis, Peripheral, NF 1

Neurofibromatosis, Peripheral, NF1

Neurofibromatosis, Type 1

Neurofibromatosis, Type I

Peripheral Neurofibromatoses

Peripheral Neurofibromatosis

Pulmonic Stenosis with Cafe au Lait Spots

Pulmonic Stenosis with Cafe-au-Lait Spots

Recklinghausen Disease of Nerve

Recklinghausen Disease, Nerve

Recklinghausen's Disease of Nerve

Recklinghausens Disease of Nerve

Syndrome, Watson

Type 1 Neurofibromatosis

Type 1, Neurofibromatosis

Type I Neurofibromatoses

Type I, Neurofibromatosis

Watson Syndrome

von Recklinghausen Disease

von Recklinghausen's Disease

von Recklinghausens Disease

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).