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Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations

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Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations vol. 93 • issue 7 • suppl no. 1 JDR Clinical Research Supplement CRITICAL REVIEWS IN ORAL BIOLOGY & MEDICINE Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations B.L. Foster1*, M.S. Ramnitz2, R.I. Gafni3, A.B. Burke3, A.M. Boyce3,4,5, J.S. Lee6, J.T. Wright7, S.O. Akintoye8, M.J. Somerman1,9, and M.T. Collins3 Abstract: Hereditary diseases affecting the skeleton and DOC complex, and Bone Disease Patient Network at the skeleton are heterogeneous in etiol- treatments. By understanding how http://www.usbji.org/projects/RBDPN_ ogy and severity. Though many of these these 4 foci are subverted to cause dis- op.cfm). Rare disorders are difficult to conditions are individually rare, the ease, we aim to improve the identifica- diagnose and are easily misdiagnosed; total number of people affected is great. tion of genetic, molecular, and/or bio- those of the skeleton are no exception. These disorders often include dental- logic causes, diagnoses, and treatment While progress has been made in oral-craniofacial (DOC) manifesta- of these and other rare bone conditions our understanding of the underlying tions, but the combination of the rar- that may share underlying mechanisms causes, pathologies, and mechanisms ity and lack of in-depth reporting often of disease. of bone diseases, those of the dental- limit our understanding and ability oral-craniofacial (DOC) complex are to diagnose and treat affected individ- Key Words: fibrous dysplasia frequently overlooked or superficially uals. In this review, we focus on den- of bone, osteogenesis imperfecta, reported. This has implications in terms tal, oral, and craniofacial manifesta- familial hypophosphatemic rickets, of understanding, diagnosing, and tions of rare bone diseases. Discussed hypophosphatasia, hyperphosphatemic treating affected individuals, in turn are defects in 4 key physiologic pro- familial tumoral calcinosis, Gorham-Stout affecting health and quality of life. cesses in bone/tooth formation that disease. Proper formation of the skeleton serve as models for the understand- and dentition requires integration of ing of other diseases in the skeleton Introduction numerous processes beginning in early and DOC complex: progenitor cell dif- embryonic development. These include ferentiation (fibrous dysplasia), extra- Hereditary diseases affecting the patterning of the head, limbs, and cellular matrix production (osteo- skeleton, which we define to include skeletal/dental elements, cell migration genesis imperfecta), mineralization the craniofacial and dental structure, and proliferation, differentiation to (familial tumoral calcinosis/hyperos- are heterogeneous in etiology, onset, specialized cells, matrix secretion, tosis hyperphosphatemia syndrome, and severity. Although many of these biomineralization of bones and teeth, hypophosphatemic rickets, and hypo- conditions are individually rare (affecting and remodeling of bone. For purposes phosphatasia), and bone resorption less than 1 in 200,000), the total number of this review, we discuss 4 processes (Gorham-Stout disease). For each con- of people affected is great (see the directly affecting the formation and dition, we highlight causative muta- National Organization for Rare Disorders function of craniofacial bones and teeth tions (when known), etiopathology in at www.rarediseases.org and the Rare (Fig. 1) that can serve as models for an DOI: 10.1177/0022034514529150. 1National Institute for Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA; 2National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA; 3Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA; 4Bone Health Program, Division of Orthopedics and Sports Medicine, Children’s National Medical Center, Washington, DC, USA; 5Division of Endocrinology and Diabetes, Children’s National Medical Center, Washington, DC, USA; 6Office of Clinical Director, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA;7 Department of Pediatric Dentistry, School of Dentistry, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; 8Department of Oral Medicine, School of Dental Medicine, University of Pennsylvania, Philadelphia, PA, USA; and 9National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA; *corresponding author, [email protected] A supplemental appendix to this article is published electronically only at http://jdr.sagepub.com/supplemental. © International & American Associations for Dental Research 7S JDR Clinical Research Supplement July 2014 Figure 1. Diseases affecting specific stages of bone formation and remodeling. This model outlines key stages of bone development (differentiation of stem/progenitor cells, matrix production, mineralization, and resorption) affected by the genetic disorders highlighted in this review. For each developmental process (indicated by text boxes), associated diseases caused by defects in that process are identified. Tooth development depends on parallel processes outlined for bone formation, though notably does not undergo physiological resorption as part of a remodeling process. understanding of basic pathophysiologic Defective Stem/Progenitor NFκB ligand (RANKL), both of which processes in the broader sense: Cell Differentiation contain cAMP response elements in their progenitor cell differentiation, promoters (Riminucci et al., 2003). The extracellular matrix production, Fibrous Dysplasia outcome is abnormal bone formation mineralization, and resorption, a key step Fibrous dysplasia of bone (FD; MIM and remodeling characterized by fibrous in remodeling of bone, but not teeth. For 174800) is caused by somatic activating tissue proliferation and expansion of the each of these processes, we highlight a mutations in the GNAS gene encoding the marrow or diploë by fibrous tissue that disease or small number of diseases that G-protein-coupled receptor-associated contains immature, structurally abnormal occur(s) when that stage goes awry. By 3′, 5′-cyclic adenosine monophosphate woven bone (Riminucci et al., 1997). discussing mechanisms of how bone and (cAMP)-regulating protein, Gsα. The phenotype is broad, ranging from tooth functions are negatively affected in Mutations result in ligand-independent a single skeletal site (monostotic) to these specific cases, we aim to identify activation of the cAMP signaling pathway massive disease affecting multiple bones patterns that can ultimately be applied (Weinstein et al., 1991). In skeletal tissues, (polyostotic) (Fig. 2A). The phenotype is to improve the identification of genetic, overproduction of cAMP impairs the determined by when, and in which clonal molecular, and/or biologic causes of ability of bone-forming mesenchyme cell in the inner cell mass, the sporadic additional diseases by their shared to transition from stem-like immature mutation arises during development. The skeletal and dental etiopathologies. cells to mature osteogenic cells. There degree of clinical sequelae likewise varies, Appendix Table 1 summarizes additional is increased secretion of interleukin-6 from asymptomatic to disfigurement conditions under each disease process. and expression of receptor activator for with loss of function, including blindness 8S vol. 93 • issue 7 • suppl no. 1 JDR Clinical Research Supplement and deafness. When extra-skeletal sites Intramedullary fixation devices are collagen propeptide) (Byers and are involved, such as skin (café-au- preferred for orthopedic procedures. Pyott, 2012; Martinez-Glez et al., lait macules) (Fig. 2B) and/or gonads However, craniofacial surgery should 2012). (precocious puberty) (Fig. 2C), the be undertaken with caution because of Craniofacial and dental features for disease is known as McCune-Albright potential for the rapid regrowth of FD OI types III and IV are summarized syndrome (MAS). Hyperthyroidism, lesions. Optic nerve decompression is in Fig. 3. Affected individuals suffer hypophosphatemia, and growth hormone contraindicated in cases where nerves are from decreased bone mineral density, excess can also occur in FD/MAS constricted but vision is unaffected (Lee increased fracture risk, deformations, (Figs. 2D, 2E). Craniofacial bones are et al., 2002). Bisphosphonates are helpful short stature, kyphoscoliosis, craniofacial the most commonly involved skeletal to treat bone pain; however, no clear deformities, and a tooth phenotype sites in FD, especially the skull base, radiographic, functional, or histologic resembling dentinogenesis imperfecta maxilla, and midface (Lee et al., 2002; benefits have been demonstrated. There (DI). Wormian bones (intrasutural Kelly et al., 2008) (Figs. 2A, 2F, 2G). is evidence suggesting that, with age, bones with unusually situated centers There can be extensive expansion of mutant progenitor cells fail to self-renew, of ossification) are associated with OI the skull, maxilla, and mandible, tooth while surviving normal cells are able to and have been correlated with disease displacement, severe malocclusion, and form normal bone, thereby limiting the severity (Semler et al., 2010). Additional facial disfigurement (Akintoye et al., 2003, progression of FD lesions (Kuznetsov clinical manifestations include blue 2013) (Figs. 2G-2I). When associated et al., 2008).
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