Neurofibromatosis 1
Subject
Subject Source: Medical Subject Headings
Scope Note: Notes = 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. ,Created For = LHSA-Dott
Found in 21 Collections and/or Records:
PR1.506, 1932
Item
Identifier: LHB1 CC/20/PR1.506
Scope and Contents
Typed case summary, charts, reports, photographs and correspondence relating to male patient from Great Britain (excluding Scotland) aged 9 at first examination in 1932. Conditions mentioned include: chondroma; and Recklinghausen disease. Surgical treatment given. Patient died in hospital.
Dates:
1932
PR1.622, 1933
Item
Identifier: LHB1 CC/20/PR1.622
Scope and Contents
Typed case summary, notes, photographs and correspondence relating to male from Great Britain (excluding Scotland) aged 27 at first examination in 1933. Conditions mentioned include: neurofibromatosis; von Recklinghausen's disease; spinal cord compression; neurofibroma; acoustic tumour; and neurinoma. Surgical treatment given. Patient died in hospital.
Dates:
1933
PR1.839, 1934-1948
Item
Identifier: LHB1 CC/20/PR1.839
Scope and Contents
Typed case summary, reports, photographs, charts and correspondence relating to male patient from Edinburgh and the Lothians aged 24 at first examination in 1934. Conditions mentioned include: seizures; epilepsy; failure of vision; neurinomata; neurofibromatosis; lipoma; adenomata; and von Recklinghausen's disease. Surgical and nonsurgical treatment given. Patient discharged.
Dates:
1934-1948
PR2.927, 1942
Item
Identifier: LHB1 CC/24/PR2.927
Scope and Contents
Typed case summary relating to female patient from Great Britain (excluding Scotland) aged 5 at first examination in 1942. Conditions mentioned include: von Recklinghausen's disease; and hydrocephalus. No treatment given. Patient discharged.
Dates:
1942
PR4.248, 1934-1936
Item
Identifier: LHB1 CC/22/PR4.248
Scope and Contents
Correspondence, notes and typed case summary relating to female patient from outside Great Britain aged 21 at first examination in 1936. Conditions mentioned include: Von Recklinghausen's disease; subcutaneous nodules; and pigmented patches. No treatment given. Patient discharged.
Dates:
1934-1936
PR1.1136, 1936-1938
Item
Identifier: LHB1 CC/20/PR1.1136
Scope and Contents
Typed case summary, chart and correspondence relating to female patient from Edinburgh and the Lothians aged 29 at first examination in 1936. Conditions mentioned include: neck pain; deafness; diplopia; von Recklinghausen condition; and neuroma. Surgical treatment given. Patient discharged.
Dates:
1936-1938
PR1.1416, 1937-1960
Item
Identifier: LHB1 CC/20/PR1.1416
Scope and Contents
Typed case summary, charts, photographs and correspondence relating to male patient from Scotland (outside Edinburgh and the Lothians) aged 8 at first examination in 1937. Conditions mentioned include: diplopia; squint; exophthalmos; and von Recklinghausen's neurofibromatosis. Surgical treatment given. Patient discharged.
Dates:
1937-1960
PR1.1641, 1938-1944
Item
Identifier: LHB1 CC/20/PR1.1641
Scope and Contents
Typed case summary, charts, photographic negatives, photographs and correspondence relating to female patient from Scotland (outside Edinburgh and the Lothians) aged 32 at first examination in 1938. Conditions mentioned include: blindness; facial paralysis; papilloedema; deafness; von Recklinghausen's Disease; neurofibroma; and meningioma. Surgical and nonsurgical treatment given. Patient discharged.
Dates:
1938-1944
PR1.1962, 1940-1975
Item
Identifier: LHB1 CC/20/PR1.1962
Scope and Contents
Typed case summary, charts, notes, reports, autopsy report and correspondence relating to female patient from Scotland (outside Edinburgh and the Lothians) aged 5 at first examination in 1940. Conditions mentioned include: cyst; headache; ependymoblastoma; multiple sclerosis; von Recklinghausen's disease; fits; meningioma; and astrocytoma. Surgical and nonsurgical treatment given. Patient discharged.
Dates:
1940-1975
PR1.1965, 1940
Item
Identifier: LHB1 CC/20/PR1.1965
Scope and Contents
Typed case summary, notes and correspondence relating to female patient from Great Britain (excluding Scotland) aged 14 at first examination in 1940. Conditions mentioned include: headache; deafness; failure of vision; papilloedema; and von Recklinghausen's neurofibromatosis. No treatment given. Patient discharged.
Dates:
1940