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Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study
- Source :
- Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018), Orphanet Journal of Rare Diseases
- Publication Year :
- 2018
- Publisher :
- BMC, 2018.
-
Abstract
- Background Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by a predisposition to develop multiple benign tumors. A major feature of NF1 is the development of localized cutaneous neurofibromas. Cutaneous neurofibromas manifest in > 99% of adults with NF1 and are responsible for major negative effects on quality of life. Previous reports have correlated increased burden of cutaneous neurofibromas with age and pregnancy, but longitudinal data are not available to establish a quantitative natural history of these lesions. The purpose of this study is to conduct a prospective natural history study of 22 adults with NF1 over an 8-year period to quantify cutaneous neurofibroma number and size. Results The average monthly increase in volume for cutaneous neurofibromas was 0.37 mm3 in the back region (95% CI (0.23, 0.51), p
- Subjects :
- Adult
Male
medicine.medical_specialty
Neurofibromatosis 1
Skin Neoplasms
lcsh:Medicine
030207 dermatology & venereal diseases
03 medical and health sciences
Natural history study
0302 clinical medicine
Quality of life
medicine
Humans
Pharmacology (medical)
Neurofibromatosis
Genetics (clinical)
Aged
Neurofibromatosis type I
Pregnancy
Neurofibroma
business.industry
Research
lcsh:R
Genetic disorder
Cutaneous neurofibromas
General Medicine
Middle Aged
medicine.disease
Dermatology
Natural history
Random effect modeling
Body region
Female
business
030217 neurology & neurosurgery
Neurofibromatosis type 1
Subjects
Details
- Language :
- English
- ISSN :
- 17501172
- Volume :
- 13
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Orphanet Journal of Rare Diseases
- Accession number :
- edsair.doi.dedup.....96f7abb6577b488ff96541d987c392b5
- Full Text :
- https://doi.org/10.1186/s13023-018-0772-z