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Erschienen in: Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie 4/2014

01.07.2014 | Case Report

Dental and craniofacial characteristics in a patient with Hutchinson–Gilford progeria syndrome

verfasst von: Dr. C. Reichert, L. Gölz, W. Götz, M. Wolf, J. Deschner, A. Jäger

Erschienen in: Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie | Ausgabe 4/2014

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Abstract

The Hutchinson–Gilford progeria syndrome (HGPS) is an exceptionally rare medical disorder caused by mutations in the lamin A/C gene. Affected patients display typical features of premature aging. Beside general medical disorders, these patients have several specific features related to the craniofacial phenotype and the oral cavity. In this article, the dental and craniofacial characteristics of a 9-year-old girl with HGPS are presented. It is the first report addressing orthodontic tooth movement and microbiological features in a HGPS patient. We describe and discuss pathologic findings and provide a detailed histology of the teeth which had to be extracted during initial treatment.
Literatur
1.
Zurück zum Zitat Album MM, Hope JW (1958) Progeria; report of a case. Oral Surg Oral Med Oral Pathol 11:985–998PubMedCrossRef Album MM, Hope JW (1958) Progeria; report of a case. Oral Surg Oral Med Oral Pathol 11:985–998PubMedCrossRef
2.
Zurück zum Zitat Batstone MD, Macleod AW (2002) Oral and maxillofacial surgical considerations for a case of Hutchinson-Gilford progeria. Int J Paediatr Dent 12:429–432PubMedCrossRef Batstone MD, Macleod AW (2002) Oral and maxillofacial surgical considerations for a case of Hutchinson-Gilford progeria. Int J Paediatr Dent 12:429–432PubMedCrossRef
3.
Zurück zum Zitat Burtner CR, Kennedy BK (2010) Progeria syndromes and ageing: what is the connection? Nat Rev Mol Cell Biol 11:567–578PubMedCrossRef Burtner CR, Kennedy BK (2010) Progeria syndromes and ageing: what is the connection? Nat Rev Mol Cell Biol 11:567–578PubMedCrossRef
4.
Zurück zum Zitat Capell BC, Collins FS (2006) Human laminopathies: nuclei gone genetically awry. Nat Rev Genet 7:940–952PubMedCrossRef Capell BC, Collins FS (2006) Human laminopathies: nuclei gone genetically awry. Nat Rev Genet 7:940–952PubMedCrossRef
6.
Zurück zum Zitat Paula Rodrigues GH de, Eiras Tamega I das, Duque G et al (2002) Severe bone changes in a case of Hutchinson-Gilford syndrome. Ann Genet 45:151–155CrossRef Paula Rodrigues GH de, Eiras Tamega I das, Duque G et al (2002) Severe bone changes in a case of Hutchinson-Gilford syndrome. Ann Genet 45:151–155CrossRef
7.
Zurück zum Zitat De Sandre-Giovannoli A, Bernard R, Cau P et al (2003) Lamin a truncation in Hutchinson-Gilford progeria. Science 300:2055CrossRef De Sandre-Giovannoli A, Bernard R, Cau P et al (2003) Lamin a truncation in Hutchinson-Gilford progeria. Science 300:2055CrossRef
8.
9.
Zurück zum Zitat Eriksson M, Brown WT, Gordon LB et al (2003) Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423:293–298PubMedCrossRef Eriksson M, Brown WT, Gordon LB et al (2003) Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423:293–298PubMedCrossRef
10.
Zurück zum Zitat Gilford H (1904) Ateleiosis and progeria: continuous youth and premature old age. Br Med J 2:914–918 Gilford H (1904) Ateleiosis and progeria: continuous youth and premature old age. Br Med J 2:914–918
11.
Zurück zum Zitat Gonzalez JM, Pla D, Perez-Sala D et al (2011) A-type lamins and Hutchinson-Gilford progeria syndrome: pathogenesis and therapy. Front Biosci (Schol Ed) 3:1133–1146 Gonzalez JM, Pla D, Perez-Sala D et al (2011) A-type lamins and Hutchinson-Gilford progeria syndrome: pathogenesis and therapy. Front Biosci (Schol Ed) 3:1133–1146
12.
Zurück zum Zitat Gordon LB, Brown WT, Collins FS (2011) Hutchinson-Gilford Progeria Syndrome. (GeneReviews. Seattle (WA), 1993 updated 2011 Jan 06) http://www.ncbi.nlm.nih.gov/books/NBK1121/. Zugegriffen: 25.03.2014 Gordon LB, Brown WT, Collins FS (2011) Hutchinson-Gilford Progeria Syndrome. (GeneReviews. Seattle (WA), 1993 updated 2011 Jan 06) http://​www.​ncbi.​nlm.​nih.​gov/​books/​NBK1121/​.​ Zugegriffen: 25.03.2014
13.
Zurück zum Zitat Gordon LB, McCarten KM, Giobbie-Hurder A et al (2007) Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development. Pediatrics 120:824–833PubMedCrossRef Gordon LB, McCarten KM, Giobbie-Hurder A et al (2007) Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development. Pediatrics 120:824–833PubMedCrossRef
14.
Zurück zum Zitat Goss JR, Stolz DB, Robinson AR et al (2011) Premature aging-related peripheral neuropathy in a mouse model of progeria. Mech Ageing Dev 132:437−442PubMedCentralPubMedCrossRef Goss JR, Stolz DB, Robinson AR et al (2011) Premature aging-related peripheral neuropathy in a mouse model of progeria. Mech Ageing Dev 132:437−442PubMedCentralPubMedCrossRef
15.
Zurück zum Zitat Hasty MF, Vann WF Jr (1988) Progeria in a pediatric dental patient: literature review and case report. Pediatr Dent 10:314–319PubMed Hasty MF, Vann WF Jr (1988) Progeria in a pediatric dental patient: literature review and case report. Pediatr Dent 10:314–319PubMed
16.
Zurück zum Zitat Hennekam RC (2006) Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A 140:2603–2624PubMedCrossRef Hennekam RC (2006) Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A 140:2603–2624PubMedCrossRef
17.
Zurück zum Zitat Hutchinson J (1886) Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Lancet 1:923 Hutchinson J (1886) Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Lancet 1:923
18.
Zurück zum Zitat Kubben N, Voncken JW, Demmers J et al (2010) Identification of differential protein interactors of lamin A and progerin. Nucleus 1:513–525PubMedCentralPubMed Kubben N, Voncken JW, Demmers J et al (2010) Identification of differential protein interactors of lamin A and progerin. Nucleus 1:513–525PubMedCentralPubMed
19.
Zurück zum Zitat Kudlow BA, Stanfel MN, Burtner CR et al (2008) Suppression of proliferative defects associated with processing-defective lamin A mutants by hTERT or inactivation of p53. Mol Biol Cell 19:5238–5248PubMedCentralPubMedCrossRef Kudlow BA, Stanfel MN, Burtner CR et al (2008) Suppression of proliferative defects associated with processing-defective lamin A mutants by hTERT or inactivation of p53. Mol Biol Cell 19:5238–5248PubMedCentralPubMedCrossRef
20.
Zurück zum Zitat Lammerding J, Schulze PC, Takahashi T et al (2004) Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J Clin Invest 113:370–378PubMedCentralPubMedCrossRef Lammerding J, Schulze PC, Takahashi T et al (2004) Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J Clin Invest 113:370–378PubMedCentralPubMedCrossRef
21.
Zurück zum Zitat Liu B, Zhou Z (2008) Lamin A/C, laminopathies and premature ageing. Histol Histopathol 23:747–763PubMed Liu B, Zhou Z (2008) Lamin A/C, laminopathies and premature ageing. Histol Histopathol 23:747–763PubMed
22.
Zurück zum Zitat Maloney WJ (2009) Hutchinson-Gilford Progeria syndrome: its presentation in F. Scott Fitzgerald’s short story ‘The Curious Case of Benjamin Button’ and its oral manifestations. J Dent Res 88:873–876PubMedCrossRef Maloney WJ (2009) Hutchinson-Gilford Progeria syndrome: its presentation in F. Scott Fitzgerald’s short story ‘The Curious Case of Benjamin Button’ and its oral manifestations. J Dent Res 88:873–876PubMedCrossRef
23.
Zurück zum Zitat Masi S, Salpea KD, Li K et al (2011) Oxidative stress, chronic inflammation, and telomere length in patients with periodontitis. Free Radic Biol Med 50:730–735PubMedCrossRef Masi S, Salpea KD, Li K et al (2011) Oxidative stress, chronic inflammation, and telomere length in patients with periodontitis. Free Radic Biol Med 50:730–735PubMedCrossRef
24.
25.
Zurück zum Zitat Morse DR (1991) Age-related changes of the dental pulp complex and their relationship to systemic aging. Oral Surg Oral Med Oral Pathol 72:721–745PubMedCrossRef Morse DR (1991) Age-related changes of the dental pulp complex and their relationship to systemic aging. Oral Surg Oral Med Oral Pathol 72:721–745PubMedCrossRef
26.
Zurück zum Zitat Morse DR, Esposito JV, Schoor RS et al (1991) A review of aging of dental components and a retrospective radiographic study of aging of the dental pulp and dentin in normal teeth. Quintessence Int 22:711–720PubMed Morse DR, Esposito JV, Schoor RS et al (1991) A review of aging of dental components and a retrospective radiographic study of aging of the dental pulp and dentin in normal teeth. Quintessence Int 22:711–720PubMed
27.
Zurück zum Zitat Mounkes L, Kozlov S, Burke B et al (2003) The laminopathies: nuclear structure meets disease. Curr Opin Genet Dev 13:223–230PubMedCrossRef Mounkes L, Kozlov S, Burke B et al (2003) The laminopathies: nuclear structure meets disease. Curr Opin Genet Dev 13:223–230PubMedCrossRef
28.
Zurück zum Zitat Olive M, Harten I, Mitchell R et al (2010) Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of aging. Arterioscler Thromb Vasc Biol 30:2301–2309PubMedCentralPubMedCrossRef Olive M, Harten I, Mitchell R et al (2010) Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of aging. Arterioscler Thromb Vasc Biol 30:2301–2309PubMedCentralPubMedCrossRef
29.
Zurück zum Zitat Plasilova M, Chattopadhyay C, Ghosh A et al (2011) Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford Progeria Syndrome (HGPS). PLoS One 6:e21433PubMedCentralPubMedCrossRef Plasilova M, Chattopadhyay C, Ghosh A et al (2011) Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford Progeria Syndrome (HGPS). PLoS One 6:e21433PubMedCentralPubMedCrossRef
30.
31.
Zurück zum Zitat Rauner M, Sipos W, Goettsch C et al (2009) Inhibition of lamin A/C attenuates osteoblast differentiation and enhances RANKL-dependent osteoclastogenesis. J Bone Miner Res 24:78–86PubMedCrossRef Rauner M, Sipos W, Goettsch C et al (2009) Inhibition of lamin A/C attenuates osteoblast differentiation and enhances RANKL-dependent osteoclastogenesis. J Bone Miner Res 24:78–86PubMedCrossRef
32.
Zurück zum Zitat Trigueros-Motos L, Gonzalez JM, Rivera J et al (2011) Hutchinson-Gilford progeria syndrome, cardiovascular disease and oxidative stress. Front Biosci (Schol Ed) 3:1285–1297 Trigueros-Motos L, Gonzalez JM, Rivera J et al (2011) Hutchinson-Gilford progeria syndrome, cardiovascular disease and oxidative stress. Front Biosci (Schol Ed) 3:1285–1297
33.
Zurück zum Zitat Viteri G, Chung YW, Stadtman ER (2010) Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients. Mech Ageing Dev 131:2–8PubMedCentralPubMedCrossRef Viteri G, Chung YW, Stadtman ER (2010) Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients. Mech Ageing Dev 131:2–8PubMedCentralPubMedCrossRef
34.
Zurück zum Zitat Wang Y, Panteleyev AA, Owens DM et al (2008) Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin. Hum Mol Genet 17:2357–2369PubMedCentralPubMedCrossRef Wang Y, Panteleyev AA, Owens DM et al (2008) Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin. Hum Mol Genet 17:2357–2369PubMedCentralPubMedCrossRef
35.
Zurück zum Zitat Wesley RK, Delaney JR, Litt R (1979) Progeria: clinical considerations of an isolated case. ASDC J Dent Child 46:487–492PubMed Wesley RK, Delaney JR, Litt R (1979) Progeria: clinical considerations of an isolated case. ASDC J Dent Child 46:487–492PubMed
36.
Zurück zum Zitat Yu QX, Zeng LH (1991) Progeria: report of a case and review of the literature. J Oral Pathol Med 20:86–88PubMedCrossRef Yu QX, Zeng LH (1991) Progeria: report of a case and review of the literature. J Oral Pathol Med 20:86–88PubMedCrossRef
37.
Zurück zum Zitat Zini N, Avnet S, Ghisu S et al (2008) Effects of prelamin A processing inhibitors on the differentiation and activity of human osteoclasts. J Cell Biochem 105:34–40PubMedCrossRef Zini N, Avnet S, Ghisu S et al (2008) Effects of prelamin A processing inhibitors on the differentiation and activity of human osteoclasts. J Cell Biochem 105:34–40PubMedCrossRef
Metadaten
Titel
Dental and craniofacial characteristics in a patient with Hutchinson–Gilford progeria syndrome
verfasst von
Dr. C. Reichert
L. Gölz
W. Götz
M. Wolf
J. Deschner
A. Jäger
Publikationsdatum
01.07.2014
Verlag
Springer Berlin Heidelberg
Erschienen in
Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie / Ausgabe 4/2014
Print ISSN: 1434-5293
Elektronische ISSN: 1615-6714
DOI
https://doi.org/10.1007/s00056-014-0216-x

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