Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on sleep in brain health

LIVE: Thursday 2nd May 2024, 18:00-19:30 (CEST)

Quality sleep is essential for health. But what happens to our brains when sleep patterns are disturbed? Join our experts to explore the interplay between sleep disruption and neurological diseases, and the questions that you need to be asking your patients to help you prevent the harmful effects of sleep deprivation.
ADVANCED SEARCH
Log in
Top
Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2021

Open Access 01-12-2021 | Langerhans Cell Histiocytosis | Review

Bone fragility in patients affected by congenital diseases non skeletal in origin

Authors: L. Masi, S. Ferrari, M. K. Javaid, S. Papapoulos, D. D. Pierroz, M. L. Brandi, IOF Skeletal Rare Diseases Working Group

Published in: Orphanet Journal of Rare Diseases | Issue 1/2021

Login to get access

Abstract

Background

Bone tissue represents a large systemic compartment of the human body, with an active metabolism, that controls mineral deposition and removal, and where several factors may play a role. For these reasons, several non-skeletal diseases may influence bone metabolism. It is of a crucial importance to classify these disorders in order to facilitate diagnosis and clinical management. This article reports a taxonomic classification of non-skeletal rare congenital disorders, which have an impact on bone metabolism

Methods

The International Osteoporosis Foundation (IOF) Skeletal Rare Diseases Working Group (SRD-WG), comprised of basic and clinical scientists, has decided to review the taxonomy of non-skeletal rare disorders that may alter bone physiology.

Results

The taxonomy of non-skeletal rare congenital disorders which impact bone comprises a total of 6 groups of disorders that may influence the activity of bone cells or the characteristics of bone matrix.

Conclusions

This paper provides the first comprehensive taxonomy of non-skeletal rare congenital disorders with impact on bone physiology.
Literature
1.
Sims NA, Martin TJ. Coupling the activities of bone formation and resorption: a multitude of signals within the basic multicellular unit. Bonekey Rep. 2014;3:481.PubMedPubMedCentralCrossRef
2.
3.
Masi L, Agnusdei D, Bilezikian J, Chappard D, Chapurlat R, Cianferotti L, et al. Taxonomy of rare genetic metabolic bone disorders. Osteoporos Int. 2015;26:2529–58.PubMedCrossRef
4.
de Duve C. Lysosomes, new group of cytooplasmic particles. In: Hayashi T editor Subcellular particles New-York: Ronald Press 1059; 128–159
5.
De Duve C. From cytases to lysosomes. Fed Proc 1064; 23:1045–1049
6.
7.
Duve C. Exploring cells with a centrifuge. Science 1075; 189:186–194
8.
Futerman AH, van Meer G. The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol. 2004;5:554–65.PubMedCrossRef
9.
Gaucher PCE. De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucémie [MD Thesis]. 1882; Paris, France.
10.
Fabry J. Ein beitrag zur Kenntnis der Purpura haemorrhagica nodularis (purpura papulosa haemorrhagica Hebrae). Arch Dermatol Syph. 1898;43:187–200.CrossRef
11.
Kruer MC, Steiner RD, Griesemer DA. Lysosomal Storage Disease. 2013; Medscape
12.
Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med 2011; 13:457–484
13.
Dingle JT. The role of lysosomal enzymes in skeletal tissues. J Bone Joint Surg Br. 1973;55:87–95.PubMedCrossRef
14.
Page-Thomas DP. Lysosomal enzymes in experimental and rheumatoid arthritis. In Lysosomes in Biology and Pathology Edited by JT Dingle and HB Fell Amsterdam, Holland 1969; 2:87–110
15.
Platt FM, Boland B, van der Spoel AC. The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction. J Cell Biol. 2012;199:723–34.PubMedPubMedCentralCrossRef
16.
Marcucci G, Zimran A, Bembi B, Kanis J, Reginster JY, Rizzoli R, et al. Gaucher disease and bone manifestations. Calcif Tissue Int. 2014;95:477–94.PubMedCrossRef
17.
18.
Andria G, Fowler B, Sbatio G (2000) Disorders of sulfur amino acid metabolism. In: J. Fernandes et al (ed) Inborn metabolic diseases. Springer, Berlin, 18:224–231
19.
Miles EW, Kraus JP. Cystathionineβ-synthase: structure, Function, regulation, and location of homocystinuria causing mutations. J Biol Chem. 2004;279:29871–4.PubMedCrossRef
20.
Reish O, Townsend D, Berry SA, Tsai MY, King RA. Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet. 1995;57:127–32.PubMedPubMedCentral
21.
Testai FD, Gorelick PB. Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. Arch Neurol. 2010;67:148–53.PubMedCrossRef
22.
Yap S. Homocystinuria due to cystathionine β-synthase deficiency. Orphanet encyclopedia, February 2005. http://​wwworphanet/​data/​patho/​GB/​uk-CbSpdf
23.
Mudd SH, Levy HL, and Kraus JP (2002) in The metabolic and molecular bases of inherited disease (Scriver, C. R., Beaudet, A. L., Valle, D., Sly, W. S., Chiles, D., Kinsler, K. W., and Vogelstein, B., eds) 8th Ed., Vol. 2, pp. 2007–2056, McGraw-Hill, Inc., New York
24.
Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, et al. Cystathionine beta-synthase mutations in homocystinuria. Hum Mutat. 1999;13:362–75.PubMedCrossRef
25.
Robert K, Maurin N, Vayssettes C, Siauve N, Janel N. Cystathionine beta synthase deficiency affects mouse endochondral ossification. Anat Rec A Discov Mol Cell Evol Biol. 2005;282:1–7.PubMed
26.
Kriebitzsch C, Verlinden L, Eelen G, van Schoor NM, Swart K, Lips P, et al. 1,25-dihydroxyvitamin D3 influences cellular homocysteine levels in murine preosteoblastic MC3T3-E1 cells by direct regulation of cystathionine beta-synthase. J Bone Miner Res. 2011;26:2991–3000.PubMedCrossRef
27.
Saposnik G, Ray JG, Sheridan P, Lonn E. Homocysteine-lowering therapy and stroke risk, severity, and disability: additional findings from the HOPE 2 trial. Stroke. 2009;40:1365–72.PubMedCrossRef
28.
Majors AK, Pyeritz RE. A deficiency of cysteine impairs fibrillin-1 deposition: implications for the pathogenesis of cystathionine beta-synthase deficiency. Mol Genet Metab. 2000;70:252–60.PubMedCrossRef
29.
Lim JS, Lee DH. Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency. Osteoporos Int. 2013;24:2535–8.PubMedCrossRef
30.
van Meurs JB, Dhonukshe-Rutten RA, Pluijm SM, van der Klift M, de Jonge R, Lindemans J, et al. Homocysteine levels and the risk of osteoporotic fracture. N Engl J Med. 2004;350:2033–41.PubMedCrossRef
31.
Morris AM, Kožich V, Santra S Andria G, Ben-Omran TI, Chakrapani AB, et al. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis 2017; 40:49–74
32.
Mistry JB, Bukhari M, Taylor AM. Alkaptonuria. Rare Dis 2013; 1:e27475
33.
Watts RW, Watts RA. Alkaptonuria: a 60-year follow-up. Rheumatology (Oxford). 2007;46:358–9.CrossRef
34.
Fernández-Cañón JM, Granadino B, Beltrán-Valero de Bernabé D, Renedo M, Fernández-Ruiz E, Peñalva MA,et al. The molecular basis of alkaptonuria. Nat Genet 1996; 14:19–24.
35.
Taylor AM, Boyde A, Wilson PJ, Jarvis JC, Jarvis JC, Davidson JS, Hunt JA, et al. The role of calcified cartilage and subchondral bone in the initiation and progression of ochronotic arthropathy in alkaptonuria. Arthritis Rheum. 2011;63:3887–96.PubMedCrossRef
36.
Catterall JB, Barr D, Bolognesi M, Robert D, Zura RD, Kraus VB. Post-translational aging of proteins in osteoarthritic cartilage and synovial fluid as measured by isomerized aspartate. Arthritis Res Ther. 2009;11:R55.PubMedPubMedCentralCrossRef
37.
Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, et al. Natural history of alkaptonuria. N Engl J Med. 2002;347:2111–21.PubMedCrossRef
38.
Balint G, Szebenyi B. Hereditary disorders mimicking and/or causing premature osteoarthritis. Baillieres Best Pract Res Clin Rheumatol. 2000;14:219–50.PubMedCrossRef
39.
Felson DT, Neogi T. Osteoarthritis: is it a disease of cartilage or of bone? Arthritis Rheum. 2004;50:341–4.PubMedCrossRef
40.
Karsdal MA, Leeming DJ, Dam EB, Henriksen K, Alexandersen P, Pastoureau P, et al. Should subchondral bone turnover be targeted when treating osteoarthritis? Osteoarthritis Cartilage. 2008;16:638–46.PubMedCrossRef
41.
Aliberti G, Pulignano I, Schiappoli A, Minisola S, Romagnoli E, Proietta M. Bone metabolism in ochronotic patients. J Intern Med. 2003;254:296–300.PubMedCrossRef
42.
Intronea WY,. Perryb PB, Troendlec J, Tsiloud E, Kaysere Ma, Suwannarate P, et al. A 3-year randomized therapeutic trial of nitisinone in Alkaptonuria. Mol Genet Metab 2001; 103(4): 307–314
43.
Lee YW, Lee DH, Kim ND, Lee ST, Ahn JY, Choi TY, et al. Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria. Exp Mol Med. 2008;5:533–40.CrossRef
44.
Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002;30:e57.PubMedPubMedCentralCrossRef
45.
Demirdas S, Coakley KE, Bisschop PH, Hollak CE, Bosch AM, Singh RH. Bone health in phenylketonuria: a systematic review and meta-analysis. Orphanet J Rare Dis. 2015;10:17.PubMedPubMedCentralCrossRef
46.
van Wegberg AMG, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12:162.PubMedPubMedCentralCrossRef
47.
Sadeghi N, Oveisi MR, Jannat B, Jannat B, Hajimahmoodi M, Behzad M, et al. The relationship between bone health and plasma zinc, copper lead and cadmium concentration in osteoporotic women. J Environ Health Sci Eng. 2014;12:125.PubMedPubMedCentralCrossRef
48.
49.
Cartwright GE. Copper metabolism in human subjects In: McElroy WD, Glass B, eds Symposium on copper metabolism Baltimore: John Hopkins Press 1950; 274–314.
50.
Scheinberg IH, Sternlieb I. Copper metabolism. Pharmacol Rev. 1960;12:355–81.PubMed
51.
Lutsenko S, Barnes NL, Bartee MY, Dmitriev OY. Function and regulation of human copper-transporting ATPases. Physiol Rev. 2007;87:1011–46.PubMedCrossRef
52.
Amador E, Domene R, Fuentes C, Carreño JC, Enríquez G. Long-term skeletal findings in Menkes diseases. Pediatr Radiol. 2010;40:1426–9.PubMedCrossRef
53.
Stanley PH, Gwinn JL, Sutcliffe J. The osseus abnormalities in Menkes syndrome. Ann Radiol (Paris). 1976;19:167–72.
54.
Kanumakala S, Boneh A, Zacharin M. Pamidronate treatment improves bone mineral density in children with Menkes disease. J Inherit Metab Dis. 2002;25:391–8.PubMedCrossRef
55.
Ogataa R, Chonga PF, Maeda K. Long surviving classical Menkes disease treated with weekly intravenous copper therapy. J Trace Elem Med Biol. 2019;54:172–4.CrossRef
56.
Esmaeili L, Perez MG, Jafari M, Paquin J, Ispas-Szabo P, Pop V, et al. Copper complexes for biomedical applications: structural insights, antioxidant activity and neuron compatibility. J Inorg Biochem. 2019;192:87–97.PubMedCrossRef
57.
Teradaa K, Schilskyb ML, Miuraa N, Sugiyama T. ATP7B (WND) protein. Int J Biochem Cell Biol. 1998;30:1063–7.CrossRef
58.
Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: a cohort study. Gut. 2007;56:115–20.PubMedPubMedCentralCrossRef
59.
Weiss KH, Van de Moortele M, Gotthardt DN, Pfeiffenberger J, Seessle J, Ullrich E, et al. Bone demineralisation in a large cohort of Wilson disease patients. J Inherit Metab Dis. 2015;38:949–95.PubMedCrossRef
60.
Xie YZ, Zhang XZ, Xu XH, Zhen-xin Z, Yiung-kun F. Radiologic study of 42 cases of Wilson disease. Skeletal Radiol. 1985;13:114–9.PubMedCrossRef
61.
Hegedus D, Ferencz V, Lakatos PL Meszaros S, Lakatos P, Horvath C, et al. Decreased bone density, elevated serum osteoprotegerin, and beta cross-laps in Wilson disease. J Bone Miner Res 2002; 17:1961–1967.
62.
Kikuyama A, Fukuda K, Mori S, Okada M, Yamaguchi H, Hamanishi C. Hydrogen peroxide induces apoptosis of osteocytes: involvement of calcium ion and caspase activity. Calcif Tissue Int. 2002;71:243–8.PubMedCrossRef
63.
64.
Heinz WK, Aftab A, Frederick A. WTX101 in patients newly diagnosed with Wilson disease: final results of a global, prospective phase 2 trial. Amsterdam: EASL; 2017. Late Breaking Abstract.
65.
Brewer GJ, Askari F, Lorincz MT, Carlson M, Schilsky M, Kluin KJ, et al. Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine ina double-blind study of treatment of the neurologic presentation of Wilson disease. Arch Neurol 2006; 63:521–7.
66.
(2011) Orphan Lung Disease. In: European Respiratory Society Monographs; J-F Cordier Ed 1–341.
67.
68.
Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245:1066–73.PubMedCrossRef
69.
Bobadilla JL, Macek M Jr, Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutations–correlation with incidence data and application to screening. Hum Mutat. 2002;19:575–606.PubMedCrossRef
70.
71.
Mischler EH, Chesney PJ, Chesney RW, Mazess RB. Demineralization in cystic fibrosis detected by direct photon absorptiometry. Am J Dis Child. 1979;133:632–5.PubMedCrossRef
72.
Jacquot J, Delion M, Gangloff S, Braux J, Velard F. Bone disease in cystic fibrosis: new pathogenic insights opening novel therapies. Osteoporos Int. 2016;27:1401–12.PubMedCrossRef
73.
Stalvey MS, Clines KL, Havasi V, McKibbin CR, Dunn LK, Chung WJ, Clines GA. Osteoblast CFTR inactivation reduces differentiation and osteoprotegerin expression in a mouse model of cystic fibrosis-related bone disease. PLoS One 20013; 13, 8:e80098
74.
Shapiro BJ, Veeraraghavan S. Lung transplantation for cystic fibrosis: an update and practical considerations for referring candidates. Curr Opin Pulm Med. 1999;5:365–70.PubMedCrossRef
75.
Bronckers A, Kalogeraki L, Jorna HJ, Bervoets TJ, Lyaruu DM, Zandieh-Doulabi B, et al. The cystic fibrosis transmembrane conductance regulator (CFTR) is expressed in maturation stage ameloblasts, odontoblasts and bone cells. Bone. 2010;46:1188–96.PubMedCrossRef
76.
Liang H, Yang L, Ma T, Zhao Y. Functional expression of cystic fibrosis transmembrane conductance regulator in mouse chondrocytes. Clin Exp Pharmacol Physiol. 2010;37:506–8.PubMedCrossRef
77.
Gimenez A, Le Henaff C, Norez C, Guillaume C, Ravoninjatovo B, Laurent-Maquin D, et al. Deficit of osteoprotegerin release by osteoblasts from a patient with cystic fibrosis. Eur Respir J. 2012;39:780–1.CrossRef
78.
Matsuzaki E, Hiratsuka S, Hamachi T, Takahashi-Yanaga F, Hashimoto Y, Higashi K, et al. Sphingosine-1-phosphate promotes the nuclear translocation of beta-catenin and thereby induces osteoprotegerin gene expression in osteoblast-like cell lines. Bone. 2013;55:315–24.PubMedCrossRef
79.
Rogan MP, Reznikov LR, Pezzulo AA, Gansemer ND, Samuel M, Prather RS, et al. Pigs and humans with cystic fibrosis have reduced insulin-like growth factor 1 (IGF1) levels at birth. Proc Natl Acad Sci USA. 2010;107:20571–5.PubMedCrossRefPubMedCentral
80.
Rafeeq MM, Murad HAS. Cystic fibrosis: current therapeutic targets and future approaches. Rafeeq Murad J Transl Med. 2010;15:8.
81.
Misbahuddin M, Rafeeq and Murad Has. Cystic fibrosis: current therapeutic targets and future approaches. Refeeq Murad J Transl Med 2015; 15:84
82.
83.
84.
Gulen T, Hagglund H, Dahlen B, Nilsson G. Mastocytosis: the puzzling clinical spectrum and challenging diagnostic aspects of an enigmatic disease. J Intern Med. 2016;279:211–28.PubMedCrossRef
85.
Johnson MR, Verstovsek S, Jorgensen JL, Manshouri T, Luthra R, Jones DM, et al. Utility of the World Heath Organization classification criteria for the diagnosis of systemic mastocytosis in bone marrow. Mod Pathol. 2009;22:50–7.PubMedCrossRef
86.
Nagata H, Worobec AS, Oh CK, B A Chowdhury, S Tannenbaum, Y Suzuki, et al. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologi disorder. Proc Natl Acad Sci USA 1995; 92:10560–10564
87.
Barete S, Assous N, de Gennes C, Grandpeix C, Feger F, Palmerini F, et al. Systemic mastocytosis and bone involvement in a cohort of 75 patients. Ann Rheum Dis. 2010;69:1838–41.PubMedCrossRef
88.
Vaes M, Benghiat FS, Hermine O (2017) Targeted Treatment Options in Mastocytosis. Frontiers in Medicine Vol. 4, Article 110
89.
Rossini M, Zanotti R, Orsolini G, Tripi G, Viapiana O, Idolazzi L, et al. Prevalence, pathogenesis, and treatment options for mastocytosis-related osteoporosis. Osteoporos Int. 2016;27:2411–21.PubMedCrossRef
90.
Herman M, Chaudry S. Thalassemia McMaster Pathophysiology Review 2018
91.
Thein SL. Pathophysiology of beta thalassemia--a guide to molecular therapies. Hematology Am Soc Hematol Educ Program 2005; 31–37
92.
De Sanctis V, Stea S, Savarino L, Scialpi V, Traina GC, Chiarelli GM, et al. Growth hormone secretion and bone histomorphometric study in thalassaemic patients with acquired skeletal dysplasia secondary to desferrioxamine. J Pediatr Endocrinol Metab. 1998;11(Suppl 3):827–33.PubMed
93.
Voskaridou E, Terpos E. New insights into the pathophysiology and management of osteoporosis in patients with beta thalassaemia. Br J Haematol. 2004;127:127–213.PubMedCrossRef
94.
Skordis N, Toumba M. Bone disease in thalassaemia major: recent advances in pathogenesis and clinical aspects. Pediatr Endocrinol Rev. 2011;8(Suppl 2):300–6.PubMed
95.
96.
Morabito N, Gaudio A, Lasco A, Atteritano M, Pizzoleo MA, Cincotta M, et al. Osteoprotegerin and RANKL in the pathogenesis of thalassemia induced osteoporosis: new pieces of the puzzle. J Bone Mineral Res. 2004;19:722–7.CrossRef
97.
98.
99.
Oldenburg J. Optimal treatment strategies for hemophilia: achievements and limitations of current prophylactic regimens. Blood. 2015;125:2038–44.PubMedCrossRef
100.
Gallacher SJ, Deighan C, Wallace AM, Cowan RA, Fraser WD, Fenner JA, et al. Association of severe haemophilia A with osteoporosis: a densitometric and biochemical study. Q J Med. 1994;87:181–6.PubMed
101.
Iorio A, Fabbriciani G, Marcucci M, Brozzetti M, Filipponi P. Bone mineral density in haemophilia patients. A meta-analysis. Thromb Haemost. 2010;103:596–603.PubMedCrossRef
102.
Booth J, Lu M, Gallo D, Ito D, ValentinO LV. Increased risk of adverse bone health outcomes in people with bleeding disorders. Blood. 2016;128:250.CrossRef
103.
Hathaway WE, Christian MJ, Clarke SL, Hasiba U. Comparison of continuous and intermittent Factor VIII concentrate therapy in hemophilia A. Am J Hematol. 1984;17(1):85–8.PubMedCrossRef
104.
Fomi ME, Togarrati PP, Muenc MM. Progress and challenges in the development of a cell-based therapy for hemophilia A. J Thromb Haemost. 1988;12(12):1954–2196.CrossRef
105.
Dolana G, Bensonb G, Duffyc A. Haemophilia B: Where are we now and what does the future hold? Blood Rev 2018; 52–66
106.
Khawaji M, Akesson K, Berntorp E. Long-term prophylaxis in severe haemophilia seems to preserve bone mineral density. Haemophilia. 2009;15:261–6.PubMedCrossRef
107.
108.
109.
Osunkwo I. An update on the recent literature on sickle cell bone disease. Wolters Kluwer Health | Lippincott Williams & Wilkins (2013)
110.
Sarrai M, Duroseau H, D‘Augustine J, Moktan S, Bellevue R. Bone mass density in adults with sickle cell disease. Br J Haematol. 2007; 136: 666–672
111.
112.
Arora R, Aggarwal S, Deme S. Ghosal hematodiaphyseal dysplasia—a concise review including an illustrative patient. Skeletal Radiol. 2015;44:447–545.PubMedCrossRef
113.
Geneviève D, Proulle V, Isidor B, Bellais S, Serre V, Djouadi F, Picard C, Vignon-Savoye C, Bader-Meunier B, Blanche S, de Vernejoul M-C, Legeai-Mallet L, Fischer A-M, Le Merrer M, Dreyfus M, Gaussem P, Munnich A, Cormier-Daire V. Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). Nat Genet. 2008;40:284–6.PubMedCrossRef
114.
Sharma R, Schwartz JE, Nalepa G. Chronic pancytopenia and increased bone density due to TBXAS1 deficiency. Blood. 2016;128:1503.CrossRef
115.
Sharma R, Potchanant ES, Schwartz JE, Nalepa G. Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency. Pediatr Blood Cancer. 2018;65:e26777.CrossRef
116.
Borzutzky ML, Reyes V, Figueroa C, García C, Cavieres M. Osteoporosis in children with severe congenital neutropenia: bone mineral density and treatment with bisphosphonates. J Pediatr Hematol Oncol. 2006;28:205–9.PubMedCrossRef
117.
Rosenberg PS, Alter BP, Bolyard AA, Bonilla MA, Boxer LA, Cham B, et al. The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood. 2006;107:4628–35.PubMedPubMedCentralCrossRef
118.
Elhasid R, Hofbauer LC, Ish-Shalom S, Ben-Arush M, Koc O, Rowe JW. Familial severe congenital neutropenia associated with infantile osteoporosis: a new entity. Am J Hematol. 2003;72:34–7.PubMedCrossRef
119.
Writing Group of the Histiocyte Society. Histiocytosis syndromes in children. Lancet 1987; i: 208–209
120.
Favara BE, Feller AC, Pauli M, Jaffe ES, Weiss LM, Arico M. Contemporary classification of histiocytic disorders. The WHO Committee On Histiocytic/Reticulum Cell Proliferations. Reclassification Working Group of the Histiocyte Society. Med Pediatr Oncol 1997; 29:157–166
121.
Shahlaee AH (2008) Histiocytic disorders In Arceci RJ, Hann IM, Smith OP, editors Pediatric Hematology 3rd ed Hoboken, NJ: Wiley 340–35
122.
123.
Keen RW Ischemic and infiltrative disorders. In: Primers on the Metabolic Bone Diseases and Diosrders of Mineral Metabolism Eighth Edition Wiley-Blackwell (Ed. J Rosen) 805–809
124.
Makras P, Terpos E, Kanakis G, Papatheodorou A, Anastasilakis AD, Kokkoris P, et al. Reduced bone mineral density in adult patients with Langerhans cell histiocytosis. Pediatr Blood Cancer. 2012;58:819–22.PubMedCrossRef
125.
Makras P, Polyzos SA, Anastasilakis AD, Terpos E, Kanakis G, Schini M, et al. Serum osteoprotegerin, RANKL, and Dkk-1 levels in adults with Langerhans cell histiocytosis. J Clin Endocrinol Metab. 2012;97:E618-621.PubMedCrossRef
126.
Monsereenusorn C, Rodriguez-Galindo C. Clinical characteristics and treatment of langerhans cell histiocytosis. Hematol Oncol Clin North Am. 2015;29:853–73.PubMedCrossRef
127.
Makras P, Salagianni M, Revelos K, Anastasilakis AD, Schini M, Tsoli M, et al. Rationale for the application of RANKL inhibition in the treatment of Langerhans cell histiocytosis. J Clin Endocrinol Metab. 2015;100:E282-286.PubMedCrossRef
128.
Makras P, Tsoli M, Anastasilakis AD, Thanou M4, Kaltsas G. Denosumab for the treatment of adult multisystem Langerhans cell histiocytosis. Metabolism 2017; 69:107–111
129.
Chester W. Lipoidgranulomatose. Virchows Arch Pathol Anat. 1930;279:561–602.CrossRef
130.
Diamond EL, Dagna L, Hyman DH, Cavalli G, Janku F, Estrada-Veras J, et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014;124:483–92.PubMedPubMedCentralCrossRef
131.
Dion E, Graef C, Miquel A, Haroche J, Wechsler B, Amoura Z, et al. Bone involvement in Erdheim-Chester disease: imaging findings including periostitis and partial epiphyseal involvement. Radiology. 2006;238:632–9.PubMedCrossRef
132.
Badalian-Very G, Vergilio JA, Degar BA, MacConaill LE, Brandner B, Calicchio ML. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood 2010; 116:1919–1923
133.
134.
Civesa M, Simonea V, Rizzoa FM. Erdheim-Chester disease: a systematic review. Crit Rev Oncol Hematol. 2015;95(1):1–11.CrossRef
135.
136.
Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23:185–8.PubMedCrossRef
137.
Julu PO, Kerr AM, Apartopoulos F, Al-Rawas S, Engerstrom I, Engerstrom L, et al. Characterisation of breathing and associate central autonomic dysfunction in the Rett disorder. Arch Dis Child. 2001;85:29–37.PubMedPubMedCentralCrossRef
138.
Ellison KA, Fill CP, Terwilliger J, DeGennaro LJ, Martin-Gallardo A, Anvret M, et al. Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet. 1992;50:278–87.PubMedPubMedCentral
139.
Jefferson AL, Woodhead HJ, Fyfe S, Briody J, Bebbington A, Strauss BJ, et al. Bone mineral content and density in Rett syndrome and their contributing factors. Pediatr Res. 2011;69:293–8.PubMedPubMedCentralCrossRef
140.
Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, et al. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature. 1998;393:386–9.PubMedCrossRef
141.
Lotan M, Reves-Siesel R, Eliav-Shalev RS, Merrick J. Osteoporosis in Rett syndrome: a case study presenting a novel management intervention for severe osteoporosis. Osteoporos Int. 2013;24:3059–63.PubMedCrossRef
142.
143.
Zanchetta MB, Scioscia MF, Zanchetta JR. Bone microarchitecture in Rett syndrome and treatment with teriparatide: a case report. Osteoporos Int. 2016;27:2873–7.PubMedCrossRef
144.
Jefferson A, Leonard H, Siafarikas A, Woodhead H, Fyfe S, Ward LM, et al. Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence. PLoS ONE. 2016;11:e0146824.PubMedPubMedCentralCrossRef
145.
Ludecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, et al. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet. 2001;68:81–91.PubMedCrossRef
146.
Napierala D, Garcia-Rojas X, Sam K, Wakui K, Chen C, Mendoza-Londono R, et al. Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation. Mol Genet Metab. 2005;86:257–68.PubMedCrossRef
147.
Macchiaiolo M, Mennini M, Digilio MC, Buonuomo PS, Lepri FR, Gnazzo M, et al. Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates. Am J Med Genet A. 2014;164A(3):760–3.PubMedCrossRef
Metadata
Title
Bone fragility in patients affected by congenital diseases non skeletal in origin
Authors
L. Masi
S. Ferrari
M. K. Javaid
S. Papapoulos
D. D. Pierroz
M. L. Brandi
IOF Skeletal Rare Diseases Working Group
Publication date
01-12-2021
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2021
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-020-01611-5

Other articles of this Issue 1/2021

Orphanet Journal of Rare Diseases 1/2021 Go to the issue

Research

New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa

Research

Clinical patterns and the evolution of relapsing polychondritis based on organ involvement: a Chinese retrospective cohort study

Research

No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia

Research

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

Research

Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials

Review

Factor VIII replacement prophylaxis in patients with hemophilia A transitioning to adults: a systematic literature review