Clinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study.

CANDLE‐WAX DISEASE LERI'S DISEASE MAP2K1 SCLEROTIC SOMATIC MOSAIC

Journal

JBMR plus
ISSN: 2473-4039
Titre abrégé: JBMR Plus
Pays: England
ID NLM: 101707013

Informations de publication

Date de publication:
Aug 2019
Historique:
received: 24 01 2019
revised: 11 06 2019
accepted: 18 06 2019
entrez: 6 9 2019
pubmed: 6 9 2019
medline: 6 9 2019
Statut: epublish

Résumé

Melorheostosis is a rare dysostosis involving cortical bone overgrowth that affects the appendicular skeleton. Patients present with pain, deformities, contractures, range of motion limitation(s), and limb swelling. It has been described in children as well as adults. We recently identified somatic mosaicism for gain-of-function mutations in

Identifiants

DOI: 10.1002/jbm4.10214 PMID: 31485554 PMC: PMC6715778
pubmed: 31485554
doi: 10.1002/jbm4.10214
pii: JBM410214
pmc: PMC6715778
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e10214

Références

Nat Genet. 2004 Nov;36(11):1213-8
pubmed: 15489854
Hum Mutat. 2006 Mar;27(3):290
pubmed: 16470551
J Bone Miner Res. 2007 Feb;22(2):243-50
pubmed: 17087626
J Nucl Med. 1976 Dec;17(12):1106-8
pubmed: 186571
Radiology. 1978 May;127(2):439-43
pubmed: 205901
Arthritis Care Res (Hoboken). 2013 Oct;65(10):1625-33
pubmed: 23592494
BMJ Case Rep. 2013 Jun 21;2013:null
pubmed: 23813581
Vital Health Stat 11. 2013 Aug;(253):1-78
pubmed: 25204772
J Clin Endocrinol Metab. 2015 Dec;100(12):4662-8
pubmed: 26505821
J Clin Epidemiol. 2016 May;73:103-11
pubmed: 26931296
Bone. 2017 Aug;101:145-155
pubmed: 28434888
Nat Commun. 2018 Apr 11;9(1):1390
pubmed: 29643386
J Bone Miner Res. 2019 Jan;34(1):145-156
pubmed: 30138550
Bone. 2018 Dec;117:31-36
pubmed: 30218789
J Med Case Rep. 2018 Sep 27;12(1):278
pubmed: 30257703
J Bone Miner Res. 2019 May;34(5):883-895
pubmed: 30667555
Calcif Tissue Int. 2019 May;104(5):530-543
pubmed: 30989250
J Bone Joint Surg Br. 1985 Jan;67(1):133-7
pubmed: 3155744
Clin Exp Rheumatol. 1986 Jul-Sep;4(3):277-80
pubmed: 3769244
J Bone Joint Surg Br. 1979 Nov;61-B(4):415-8
pubmed: 500749
Skeletal Radiol. 1979 Jun 6;4(2):57-71
pubmed: 505048
Clin Nucl Med. 1994 Jun;19(6):512-5
pubmed: 8062470

Auteurs

Smita Jha (S)

Clinical and Investigative Orthopedics Surgery Unit National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH Bethesda MD USA.
Section on Congenital Disorders NIH Clinical Center Bethesda MD USA.
ORCID: 0000-0001-9201-3340

Edward W Cowen (EW)

Dermatology Branch National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH Bethesda MD USA.

Tanya J Lehky (TJ)

EMG Section, National Institutes of Neurological Disorders and Stroke (NINDS), NIH Bethesda MD USA.

Katharine Alter (K)

Functional and Applied Biomechanics Section Rehabilitation Medicine Department, NIH Bethesda MD USA.

Lauren Flynn (L)

National Institutes of Neurological Disorders and Stroke (NINDS), NIH Bethesda MD USA.

James C Reynolds (JC)

Nuclear Medicine Division Radiology and Imaging Sciences, NIH Clinical Center Bethesda MD USA.

Eileen Lange (E)

Office of the Clinical Director National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH Bethesda MD USA.

James D Katz (JD)

Office of the Clinical Director National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH Bethesda MD USA.

Joan C Marini (JC)

Section on Heritable Disorders of Bone and Extracellular Matrix National Institute of Child Health and Human Development, NIH Bethesda MD USA.

Richard M Siegel (RM)

Immunoregulation Section, Autoimmunity Branch National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH Bethesda MD USA.

Timothy Bhattacharyya (T)

Clinical and Investigative Orthopedics Surgery Unit National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH Bethesda MD USA.

Classifications MeSH