Measuring the Effect of Cutaneous Neurofibromas on Quality of Life in Neurofibromatosis Type 1.


Journal

Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060

Informations de publication

Date de publication:
17 08 2021
Historique:
received: 12 10 2020
accepted: 23 04 2021
pubmed: 8 7 2021
medline: 2 9 2021
entrez: 7 7 2021
Statut: ppublish

Résumé

In order to explore the use of Skindex scoring in patients with neurofibromatosis type 1 (NF1) across multiple clinical sites and inform design of additional quality of life measures, we analyzed correlations between Skindex, site, and clinical measures for 79 patients with NF1 from specialized clinics in Sydney, Australia (Royal North Shore Hospital [RNS]) and Minneapolis, Minnesota (University of Minnesota [UMN]). The relationship between clinical factors and Skindex scores were explored by clinic site and overall. A total of 40 participants were recruited from RNS and 39 from UMN. Female sex, total number of cutaneous neurofibroma (cNF), and whether cNF were present on the face correlated highly with Skindex and not Riccardi scores. The UMN site had lower average scores, but these differences were almost entirely removed after adjusting for age, sex, facial cNF, and total cNF number. The development of cNF in adolescence and adulthood in NF1 often leads to progressive disfigurement and discomfort and is among one of the most common reasons for patients to seek medical treatment. Skindex has been used to assess skin-related quality of life in NF1 previously but is not specific to NF1. These findings highlight the need for a low threshold for referral to dermatologists for all patients with NF1 regardless of the severity of disease. The finding that facial cNF and higher total number of cNF correlates with poorer skin-related quality of life may benefit design of more specific NF1 skin-related quality of life measures.

Identifiants

pubmed: 34230204
pii: WNL.0000000000012427
doi: 10.1212/WNL.0000000000012427
pmc: PMC8594000
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

S25-S31

Subventions

Organisme : NCATS NIH HHS
ID : UL1 TR002494
Pays : United States

Informations de copyright

© 2021 American Academy of Neurology.

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Auteurs

Sheilagh Maguiness (S)

From the Department of Dermatology (S.M., M.D.), Biostatistics Core, Masonic Cancer Center (N.R.), and Department of Pediatrics (C.M.), University of Minnesota, Minneapolis; Department of Clinical Genetics (Y.B., C.W.), Royal North Shore Hospital; Faculty of Medicine (Y.B.), University of Sydney, Australia; and Department of Neurology and Cancer Center (S.R.P.), Massachusetts General Hospital, Boston.

Yemima Berman (Y)

From the Department of Dermatology (S.M., M.D.), Biostatistics Core, Masonic Cancer Center (N.R.), and Department of Pediatrics (C.M.), University of Minnesota, Minneapolis; Department of Clinical Genetics (Y.B., C.W.), Royal North Shore Hospital; Faculty of Medicine (Y.B.), University of Sydney, Australia; and Department of Neurology and Cancer Center (S.R.P.), Massachusetts General Hospital, Boston. Yemima.berman@health.nsw.gov.au.

Nathan Rubin (N)

From the Department of Dermatology (S.M., M.D.), Biostatistics Core, Masonic Cancer Center (N.R.), and Department of Pediatrics (C.M.), University of Minnesota, Minneapolis; Department of Clinical Genetics (Y.B., C.W.), Royal North Shore Hospital; Faculty of Medicine (Y.B.), University of Sydney, Australia; and Department of Neurology and Cancer Center (S.R.P.), Massachusetts General Hospital, Boston.

Melissa Dodds (M)

From the Department of Dermatology (S.M., M.D.), Biostatistics Core, Masonic Cancer Center (N.R.), and Department of Pediatrics (C.M.), University of Minnesota, Minneapolis; Department of Clinical Genetics (Y.B., C.W.), Royal North Shore Hospital; Faculty of Medicine (Y.B.), University of Sydney, Australia; and Department of Neurology and Cancer Center (S.R.P.), Massachusetts General Hospital, Boston.

Scott R Plotkin (SR)

From the Department of Dermatology (S.M., M.D.), Biostatistics Core, Masonic Cancer Center (N.R.), and Department of Pediatrics (C.M.), University of Minnesota, Minneapolis; Department of Clinical Genetics (Y.B., C.W.), Royal North Shore Hospital; Faculty of Medicine (Y.B.), University of Sydney, Australia; and Department of Neurology and Cancer Center (S.R.P.), Massachusetts General Hospital, Boston.

Claire Wong (C)

From the Department of Dermatology (S.M., M.D.), Biostatistics Core, Masonic Cancer Center (N.R.), and Department of Pediatrics (C.M.), University of Minnesota, Minneapolis; Department of Clinical Genetics (Y.B., C.W.), Royal North Shore Hospital; Faculty of Medicine (Y.B.), University of Sydney, Australia; and Department of Neurology and Cancer Center (S.R.P.), Massachusetts General Hospital, Boston.

Christopher Moertel (C)

From the Department of Dermatology (S.M., M.D.), Biostatistics Core, Masonic Cancer Center (N.R.), and Department of Pediatrics (C.M.), University of Minnesota, Minneapolis; Department of Clinical Genetics (Y.B., C.W.), Royal North Shore Hospital; Faculty of Medicine (Y.B.), University of Sydney, Australia; and Department of Neurology and Cancer Center (S.R.P.), Massachusetts General Hospital, Boston.

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