Biomaterial Database

[Orbital changes in neurofibromatosis (author's transl)]. 1976

P J Prager

A case of orbital dysplasia due to v. Recklinghausen's disease is reported. Pathogenesis, clinical symptoms and roentgenographic findings of this disease are presented and the differential diagnosis is discussed. The congenital anomalies of the orbital bones are characteristic and allow to establish the correct diagnosis.

UI	MeSH Term	Description	Entries
D008297	Male		Males
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
D009915	Orbit	Bony cavity that holds the eyeball and its associated tissues and appendages.	Eye Socket,Eye Sockets,Orbits,Socket, Eye,Sockets, Eye
D009918	Orbital Neoplasms	Neoplasms of the bony orbit and contents except the eyeball.	Neoplasm, Orbital,Neoplasms, Orbital,Orbital Neoplasm
D001932	Brain Neoplasms	Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain.	Brain Cancer,Brain Metastases,Brain Tumors,Cancer of Brain,Malignant Primary Brain Tumors,Neoplasms, Intracranial,Benign Neoplasms, Brain,Brain Neoplasm, Primary,Brain Neoplasms, Benign,Brain Neoplasms, Malignant,Brain Neoplasms, Malignant, Primary,Brain Neoplasms, Primary Malignant,Brain Tumor, Primary,Brain Tumor, Recurrent,Cancer of the Brain,Intracranial Neoplasms,Malignant Neoplasms, Brain,Malignant Primary Brain Neoplasms,Neoplasms, Brain,Neoplasms, Brain, Benign,Neoplasms, Brain, Malignant,Neoplasms, Brain, Primary,Primary Brain Neoplasms,Primary Malignant Brain Neoplasms,Primary Malignant Brain Tumors,Benign Brain Neoplasm,Benign Brain Neoplasms,Benign Neoplasm, Brain,Brain Benign Neoplasm,Brain Benign Neoplasms,Brain Cancers,Brain Malignant Neoplasm,Brain Malignant Neoplasms,Brain Metastase,Brain Neoplasm,Brain Neoplasm, Benign,Brain Neoplasm, Malignant,Brain Neoplasms, Primary,Brain Tumor,Brain Tumors, Recurrent,Cancer, Brain,Intracranial Neoplasm,Malignant Brain Neoplasm,Malignant Brain Neoplasms,Malignant Neoplasm, Brain,Neoplasm, Brain,Neoplasm, Intracranial,Primary Brain Neoplasm,Primary Brain Tumor,Primary Brain Tumors,Recurrent Brain Tumor,Recurrent Brain Tumors,Tumor, Brain
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
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
D005094	Exophthalmos	Abnormal protrusion of both eyes; may be caused by endocrine gland malfunction, malignancy, injury, or paralysis of the extrinsic muscles of the eye.	Proptosis,Proptoses
D005357	Fibrous Dysplasia of Bone	A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC).	Osteitis Fibrosa Disseminata,Fibrocartilaginous Dysplasia of Bone,Fibrocystic Dysplasia of Bone,Jaffe-Lichtenstein Disease,Bone Fibrocartilaginous Dysplasia,Bone Fibrocartilaginous Dysplasias,Bone Fibrocystic Dysplasia,Bone Fibrocystic Dysplasias,Bone Fibrous Dysplasia,Bone Fibrous Dysplasias,Jaffe Lichtenstein Disease
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man