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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