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Ribbing disease

MedGen UID:
321923
Concept ID:
C1832273
Disease or Syndrome
Synonyms: Hereditary multiple diaphyseal sclerosis; Multiple diaphyseal sclerosis
 
Monarch Initiative: MONDO:0011092
OMIM®: 601477

Disease characteristics

Excerpted from the GeneReview: Camurati-Engelmann Disease
Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as macrocephaly, frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life. [from GeneReviews]
Authors:
Stephanie E Wallace  |  William R Wilcox   view full author information

Clinical features

From HPO
Diaphyseal sclerosis
MedGen UID:
1631208
Concept ID:
C4551853
Finding
An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.

Professional guidelines

PubMed

Savoie A, Gouin F, Maugars Y, Isidor B, Larrose C, Berthelot JM
Joint Bone Spine 2013 Dec;80(6):638-44. Epub 2013 Mar 1 doi: 10.1016/j.jbspin.2013.01.007. PMID: 23453470
Seeger LL, Hewel KC, Yao L, Gold RH, Mirra JM, Chandnani VP, Eckardt JJ
AJR Am J Roentgenol 1996 Sep;167(3):689-94. doi: 10.2214/ajr.167.3.8751682. PMID: 8751682

Recent clinical studies

Etiology

Zhang LL, Jiang WM, Yang HL, Luo ZP
Osteoporos Int 2017 Apr;28(4):1499-1502. Epub 2017 Jan 18 doi: 10.1007/s00198-016-3896-9. PMID: 28101629
Kang S, Han I, Shin SH, Kim HS
Clin Orthop Relat Res 2012 Jan;470(1):321-6. Epub 2011 Nov 10 doi: 10.1007/s11999-011-2165-7. PMID: 22072092Free PMC Article
Makita Y, Nishimura G, Ikegawa S, Ishii T, Ito Y, Okuno A
Am J Med Genet 2000 Mar 13;91(2):153-6. doi: 10.1002/(sici)1096-8628(20000313)91:2<153::aid-ajmg15>3.0.co;2-u. PMID: 10748417
Greenspan A
Skeletal Radiol 1991;20(8):561-83. doi: 10.1007/BF01106087. PMID: 1776023

Diagnosis

Panigrahi S, Patro BP, Mohapatra A, Patra SK
BMJ Case Rep 2021 Oct 28;14(10) doi: 10.1136/bcr-2021-244868. PMID: 34711623Free PMC Article
Cai Y, Lin H, Huang F, Zheng X, Huang Y, Zhang S
Medicine (Baltimore) 2018 Aug;97(33):e11725. doi: 10.1097/MD.0000000000011725. PMID: 30113457Free PMC Article
Pijls BG, Steentjes K, Schoones JW, Dijkstra SP
Acta Radiol 2018 Apr;59(4):448-453. Epub 2017 Jul 10 doi: 10.1177/0284185117719575. PMID: 28691528
Zhang LL, Jiang WM, Li XF, Yuan J, Yang HL
J Orthop Sci 2011 Nov;16(6):828-31. Epub 2011 Aug 10 doi: 10.1007/s00776-011-0137-0. PMID: 21830103
Seeger LL, Hewel KC, Yao L, Gold RH, Mirra JM, Chandnani VP, Eckardt JJ
AJR Am J Roentgenol 1996 Sep;167(3):689-94. doi: 10.2214/ajr.167.3.8751682. PMID: 8751682

Therapy

Cai Y, Lin H, Huang F, Zheng X, Huang Y, Zhang S
Medicine (Baltimore) 2018 Aug;97(33):e11725. doi: 10.1097/MD.0000000000011725. PMID: 30113457Free PMC Article
Pijls BG, Steentjes K, Schoones JW, Dijkstra SP
Acta Radiol 2018 Apr;59(4):448-453. Epub 2017 Jul 10 doi: 10.1177/0284185117719575. PMID: 28691528
Savoie A, Gouin F, Maugars Y, Isidor B, Larrose C, Berthelot JM
Joint Bone Spine 2013 Dec;80(6):638-44. Epub 2013 Mar 1 doi: 10.1016/j.jbspin.2013.01.007. PMID: 23453470
Oztürkmen Y, Karamehmetoğlu M
Acta Orthop Traumatol Turc 2011;45(1):58-65. doi: 10.3944/AOTT.2010.2421. PMID: 21478664
Ziran N, Hill S, Wright ME, Kovacs J, Robey PG, Wientroub S, Collins MT
Skeletal Radiol 2002 Dec;31(12):714-9. Epub 2002 Aug 15 doi: 10.1007/s00256-002-0552-6. PMID: 12483434

Prognosis

Zhang LL, Jiang WM, Yang HL, Luo ZP
Osteoporos Int 2017 Apr;28(4):1499-1502. Epub 2017 Jan 18 doi: 10.1007/s00198-016-3896-9. PMID: 28101629
Kang S, Han I, Shin SH, Kim HS
Clin Orthop Relat Res 2012 Jan;470(1):321-6. Epub 2011 Nov 10 doi: 10.1007/s11999-011-2165-7. PMID: 22072092Free PMC Article
Oztürkmen Y, Karamehmetoğlu M
Acta Orthop Traumatol Turc 2011;45(1):58-65. doi: 10.3944/AOTT.2010.2421. PMID: 21478664
Seeger LL, Hewel KC, Yao L, Gold RH, Mirra JM, Chandnani VP, Eckardt JJ
AJR Am J Roentgenol 1996 Sep;167(3):689-94. doi: 10.2214/ajr.167.3.8751682. PMID: 8751682

Clinical prediction guides

González-Reimers E, Ordóñez AC, Marrero-Salas E, Vacas-Fumero E, Rodríguez-Caraballo S, Arnay-de-la-Rosa M
Anthropol Anz 2024 Jan 25;81(1):79-107. doi: 10.1127/anthranz/2023/1712. PMID: 37548019
Cai Y, Lin H, Huang F, Zheng X, Huang Y, Zhang S
Medicine (Baltimore) 2018 Aug;97(33):e11725. doi: 10.1097/MD.0000000000011725. PMID: 30113457Free PMC Article

Recent systematic reviews

Pijls BG, Steentjes K, Schoones JW, Dijkstra SP
Acta Radiol 2018 Apr;59(4):448-453. Epub 2017 Jul 10 doi: 10.1177/0284185117719575. PMID: 28691528

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