Biomaterial Database

Elephantiasis neuromatosa; a manifestation of von Recklinghausen's disease. 1947

R J WESTCOTT, and L V ACKERMAN

UI	MeSH Term	Description	Entries
D009456	Neurofibromatosis 1	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).	Peripheral Neurofibromatosis,Recklinghausen Disease of Nerve,von Recklinghausen Disease,Cafe-au-Lait Spots with Pulmonic Stenosis,Molluscum Fibrosum,NF1 (Neurofibromatosis 1),Neurofibromatosis I,Neurofibromatosis Type 1,Neurofibromatosis Type I,Neurofibromatosis, Peripheral Type,Neurofibromatosis, Peripheral, NF 1,Neurofibromatosis, Peripheral, NF1,Neurofibromatosis, Type 1,Neurofibromatosis, Type I,Pulmonic Stenosis with Cafe-au-Lait Spots,Recklinghausen Disease, Nerve,Recklinghausen's Disease of Nerve,Recklinghausens Disease of Nerve,Watson Syndrome,von Recklinghausen's Disease,Cafe au Lait Spots with Pulmonic Stenosis,Neurofibromatoses, Peripheral,Neurofibromatoses, Type I,Neurofibromatosis, Peripheral,Peripheral Neurofibromatoses,Pulmonic Stenosis with Cafe au Lait Spots,Syndrome, Watson,Type 1 Neurofibromatosis,Type 1, Neurofibromatosis,Type I Neurofibromatoses,Type I, Neurofibromatosis,von Recklinghausens Disease
D004604	Elephantiasis	Hypertrophy and thickening of tissues from causes other than filarial infection, the latter being described as ELEPHANTIASIS, FILARIAL.	Bigfoot Disease,Elephantiasis Nostras Verrucosa,Endemic Elephantiasis,Endemic Non-Filarial Elephantiasis,Lymphostatic Verrucosis,Microcrystal Disease,Mossy foot,Podoconiosis,Bigfoot Diseases,Disease, Bigfoot,Disease, Microcrystal,Diseases, Bigfoot,Diseases, Microcrystal,Elephantiases,Elephantiases, Endemic,Elephantiases, Endemic Non-Filarial,Elephantiasis Nostras Verrucosas,Elephantiasis, Endemic,Elephantiasis, Endemic Non-Filarial,Endemic Elephantiases,Endemic Non Filarial Elephantiasis,Endemic Non-Filarial Elephantiases,Lymphostatic Verrucoses,Microcrystal Diseases,Mossy foots,Non-Filarial Elephantiases, Endemic,Non-Filarial Elephantiasis, Endemic,Nostras Verrucosa, Elephantiasis,Nostras Verrucosas, Elephantiasis,Podoconioses,Verrucosa, Elephantiasis Nostras,Verrucosas, Elephantiasis Nostras,Verrucoses, Lymphostatic,Verrucosis, Lymphostatic,foot, Mossy,foots, Mossy
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017253	Neurofibromatoses	A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)	Neurofibromatosis,Neurofibromatosis Type 3,Multiple Neurofibromas,Neurofibromatosis 3,Neurofibromatosis Syndrome,Multiple Neurofibroma,Neurofibroma, Multiple,Neurofibromas, Multiple,Neurofibromatosis 3s,Neurofibromatosis Syndromes,Neurofibromatosis Type 3s,Syndrome, Neurofibromatosis,Syndromes, Neurofibromatosis,Type 3, Neurofibromatosis