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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Prosthetic rehabilitation of a young patient with Hypophosphatasia – A review and case report</title><author><name sortKey="Grewal, Partapjot S" sort="Grewal, Partapjot S" uniqKey="Grewal P" first="Partapjot S." last="Grewal">Partapjot S. Grewal</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Gupta, Kanu Priya" sort="Gupta, Kanu Priya" uniqKey="Gupta K" first="Kanu Priya" last="Gupta">Kanu Priya Gupta</name><affiliation><nlm:aff id="aff2"><italic>Department of Pedodontics, National Dental College and Hospital, Derabassi, India</italic></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22557902</idno><idno type="pmc">3341764</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3341764</idno><idno type="RBID">PMC:3341764</idno><idno type="doi">10.4103/0976-237X.94551</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001B90</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001B90</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Prosthetic rehabilitation of a young patient with Hypophosphatasia – A review and case report</title><author><name sortKey="Grewal, Partapjot S" sort="Grewal, Partapjot S" uniqKey="Grewal P" first="Partapjot S." last="Grewal">Partapjot S. Grewal</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Gupta, Kanu Priya" sort="Gupta, Kanu Priya" uniqKey="Gupta K" first="Kanu Priya" last="Gupta">Kanu Priya Gupta</name><affiliation><nlm:aff id="aff2"><italic>Department of Pedodontics, National Dental College and Hospital, Derabassi, India</italic></nlm:aff></affiliation></author></analytic><series><title level="j">Contemporary Clinical Dentistry</title><idno type="ISSN">0976-237X</idno><idno type="eISSN">0976-2361</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Hypophosphatasia is a congenital disease characterized by deficiency of serum and tissue non-specific alkaline phosphatase activity. The disease occurs due to mutations in the liver/bone/kidney alkaline phosphatase gene. Six clinical forms of hypophosphatasia are recognized. Systemic symptoms of the disease are respiratory complications, premature craniosynostosis, widespread demineralization and rachitic changes in the metaphases, stress fractures, chondrocalcinosis and osteoarthropathy. Characteristic dental symptoms include premature loss of deciduous teeth, premature exfoliation of fully rooted permanent teeth, severe dental caries and alveolar bone loss. This clinical report describes the prosthetic rehabilitation of a sixteen year old female patient with hypophosphatasia with partial anodontia and no occlusion. Patient was managed clinically by saving her remaining teeth, fabricating a maxillary overdenture and mandibular cast partial denture. This not only helped her functionally in biting and chewing food and achieving a good occlusion, but also restored her confidence and self image by improving the aesthetics.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Chappie, Il" uniqKey="Chappie I">IL Chappie</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fraser, D" uniqKey="Fraser D">D Fraser</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Beumer, J" uniqKey="Beumer J">J Beumer</name></author><author><name sortKey="Trowbridge, Ho" uniqKey="Trowbridge H">HO Trowbridge</name></author><author><name sortKey="Silverman, S" uniqKey="Silverman S">S Silverman</name></author><author><name sortKey="Eisenberg, E" uniqKey="Eisenberg E">E Eisenberg</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bagis, B" uniqKey="Bagis B">B Bagis</name></author><author><name sortKey="Baltacioglu, E" uniqKey="Baltacioglu E">E Baltacioglu</name></author><author><name sortKey="Aydogan, E" uniqKey="Aydogan E">E Aydogan</name></author><author><name sortKey="Tamam, E" uniqKey="Tamam E">E Tamam</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Baab, Da" uniqKey="Baab D">DA Baab</name></author><author><name sortKey="Page, Rc" uniqKey="Page R">RC Page</name></author><author><name sortKey="Ebersole, Jl" uniqKey="Ebersole J">JL Ebersole</name></author><author><name sortKey="Williams, Bl" uniqKey="Williams B">BL Williams</name></author><author><name sortKey="Scott, Cr" uniqKey="Scott C">CR Scott</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Whyte, Mp" uniqKey="Whyte M">MP Whyte</name></author><author><name sortKey="Teitelbaum, Sl" uniqKey="Teitelbaum S">SL Teitelbaum</name></author><author><name sortKey="Murphy, Wa" uniqKey="Murphy W">WA Murphy</name></author><author><name sortKey="Bergfeld, Ma" uniqKey="Bergfeld M">MA Bergfeld</name></author><author><name sortKey="Avioli, Lv" uniqKey="Avioli L">LV Avioli</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mornet, E" uniqKey="Mornet E">E Mornet</name></author><author><name sortKey="Nunes, Me" uniqKey="Nunes M">ME Nunes</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="case-report"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Contemp Clin Dent</journal-id><journal-id journal-id-type="iso-abbrev">Contemp Clin Dent</journal-id><journal-id journal-id-type="publisher-id">CCD</journal-id><journal-title-group><journal-title>Contemporary Clinical Dentistry</journal-title></journal-title-group><issn pub-type="ppub">0976-237X</issn><issn pub-type="epub">0976-2361</issn><publisher><publisher-name>Medknow Publications & Media Pvt Ltd</publisher-name><publisher-loc>India</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22557902</article-id><article-id pub-id-type="pmc">3341764</article-id><article-id pub-id-type="publisher-id">CCD-3-74</article-id><article-id pub-id-type="doi">10.4103/0976-237X.94551</article-id><article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject></subj-group></article-categories><title-group><article-title>Prosthetic rehabilitation of a young patient with Hypophosphatasia – A review and case report</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Grewal</surname><given-names>Partapjot S.</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Gupta</surname><given-names>Kanu Priya</given-names></name><xref ref-type="aff" rid="aff2">1</xref><xref ref-type="corresp" rid="cor1"></xref></contrib></contrib-group><aff id="aff1"><italic>Department of Prosthodontics, BRS Dental College and Hospital, Sultanpur (Panchkula), India</italic></aff><aff id="aff2"><label>1</label><italic>Department of Pedodontics, National Dental College and Hospital, Derabassi, India</italic></aff><author-notes><corresp id="cor1"><bold>Correspondence:</bold> Dr. Kanu Priya Gupta, Department of Pedodontics & Preventive Dentistry, National Dental College, Derabassi, India. E-mail: <email xlink:href="dentico_kanupriya@yahoo.com">dentico_kanupriya@yahoo.com</email></corresp></author-notes><pub-date pub-type="ppub"><season>Jan-Mar</season><year>2012</year></pub-date><volume>3</volume><issue>1</issue><fpage>74</fpage><lpage>77</lpage><permissions><copyright-statement>Copyright: © Contemporary Clinical Dentistry</copyright-statement><copyright-year>2012</copyright-year><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc-sa/3.0"><license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><abstract><p>Hypophosphatasia is a congenital disease characterized by deficiency of serum and tissue non-specific alkaline phosphatase activity. The disease occurs due to mutations in the liver/bone/kidney alkaline phosphatase gene. Six clinical forms of hypophosphatasia are recognized. Systemic symptoms of the disease are respiratory complications, premature craniosynostosis, widespread demineralization and rachitic changes in the metaphases, stress fractures, chondrocalcinosis and osteoarthropathy. Characteristic dental symptoms include premature loss of deciduous teeth, premature exfoliation of fully rooted permanent teeth, severe dental caries and alveolar bone loss. This clinical report describes the prosthetic rehabilitation of a sixteen year old female patient with hypophosphatasia with partial anodontia and no occlusion. Patient was managed clinically by saving her remaining teeth, fabricating a maxillary overdenture and mandibular cast partial denture. This not only helped her functionally in biting and chewing food and achieving a good occlusion, but also restored her confidence and self image by improving the aesthetics.</p></abstract><kwd-group><kwd>Alkaline phosphatase levels</kwd><kwd>Alveolar bone atrophy</kwd><kwd>anodontia</kwd><kwd>complete rehabilitation</kwd><kwd>hypophosphatasia</kwd><kwd>serum</kwd></kwd-group></article-meta></front><body><sec id="sec1-1"><title>Introduction</title><p>Hypophosphatasia is a rare enzymopathy that normally presents within the first few years of life and often has profound effects upon the periodontium. It is characterized by low or zero levels of serum and tissue non-specific alkaline phosphatase, which is necessary for normal bone mineralization. It is a heritable disorder characterised by defective mineralisation of the skeletal and dental structures of the body, and a deficiency in liver/bone/kidney isoenzyme of alkaline phosphatase (ALP). The symptoms are highly variable in their clinical expression, ranging from stillbirth without mineralized bone, to early loss of tooth without any bone symptoms.[<xref ref-type="bibr" rid="ref1">1</xref>] In 1957, Fraser[<xref ref-type="bibr" rid="ref2">2</xref>] classified hypophosphatasia into 3 groups depending upon age of presentation. Six clinical types of hypophosphatasia are currently recognized in the forms of perinatal lethal, benign prenatal, infantile, childhood, adult and odontohypophosphatasia. Some infants can only live for a few days and have respiratory complications due to hypoplastic lungs and rachitic deformities of the chest.</p><sec id="sec2-1"><title>Dental symptoms/Oral manifestations</title><p>A few oral manifestations of hypophosphatasia can be given as follows:</p><p><list list-type="bullet"><list-item><p>Lack of cementum formation</p></list-item><list-item><p>Root resorption</p></list-item><list-item><p>Enamel hypoplasia</p></list-item><list-item><p>Delayed appearance and premature decay of deciduous and permanent dentition and total tooth loss before 20 years of age.</p></list-item></list></p><p>There appears to be no male/female preference, and mean age for the first tooth to be lost is 21-22 months.[<xref ref-type="bibr" rid="ref3">3</xref>] Enlarged pulp spaces and reduced cortical bone thickness of the mandibular angle are one of the common characteristics. Roots either fail to develop fully or there is early resorption of the apices.[<xref ref-type="bibr" rid="ref4">4</xref>]</p></sec><sec id="sec2-2"><title>Radiographic features</title><p>Long bones with elongated finger like processes of uncalcified tissue extending longitudinally into the poorly formed osseous tissue at the ends of long bones can be seen radiogpahically. “<italic>Beaten copper</italic>” appearance – multiple radiolucent areas on skull called gyral or convoluted markings which result due to increase in intra cranial pressure are seen. Reduced enamel thickness, enlarged pulp chamber and alveolar bone atrophy are common dental findings along with generalised reduction in bone density in jaw bones. Evidence of skeletal defects is found in nearly all patients and includes hypomineralization, rachitic changes, and incomplete vertebrate ossification and occasionally lateral bony spurs on the ulnae and fibulae.[<xref ref-type="bibr" rid="ref5">5</xref>]</p></sec><sec id="sec2-3"><title>Laboratory diagnosis</title><p>The pathognomonic symptom is subnormal serum activity of ALP. In general, the clinical severity mirrors the degree of enzyme deficiency. The most sensitive substrate marker for hypophosphatasia is an increased pyridoxal 5’-phosphate (PLP) plasma level, which often correlates with the disease severity. And, although it remains only a research technique, quantitation of urinary inorganic pyrophosphate (PPi) levels, which are elevated in most hypophosphatasia patients, has been reported to accurately detect carriers. In addition, increased urinary levels of Phosphaoethanalamine (PEA) are observed in most patients. Differential diagnosis for this disease include Osteogenesis imperfect, Rickets and Achondrogenesis[<xref ref-type="bibr" rid="ref5">5</xref><xref ref-type="bibr" rid="ref6">6</xref>]</p></sec><sec id="sec2-4"><title>Case report presentation</title><p>This clinical report describes the prosthetic rehabilitation of a sixteen year old female patient with hypophosphatasia, who reported to our department with poor oral hygiene, missing teeth, unaaesthetic appearance and low self esteem. Clinical examination revealed severely resorbed maxillary and mandibular alveolar ridges with partial anodontia and several root stumps. Teeth present were right maxillary central incisor, maxillary right first and second molar, maxillary left first and second molar, mandibular left first and second molar, and mandibular right first and second molar. Patient did not have any established occlusion with poor aesthetics [Figures <xref ref-type="fig" rid="F1">1</xref>–<xref ref-type="fig" rid="F2">2</xref>]. Orthopantomogram (OPG) and a Lateral Cephalogram were taken. OPG revealed severe alveolar bone loss with enlarged pulp chambers and stunted root growth of molars. There were horizontally impacted third molars and reduced bone density with severe bone atrophy in both maxilla and mandible. [<xref ref-type="fig" rid="F3">Figure 3</xref>] On examining the Lateral Cephalogram, a prognathic relation of mandible with maxilla was observed [<xref ref-type="fig" rid="F4">Figure 4</xref>].</p><fig id="F1" position="float"><label>Figure 1</label><caption><p>Pre-operative intra-oral photograph showing missing teeth, root stumps and poor oral hygiene of the patient in the case report</p></caption><graphic xlink:href="CCD-3-74-g001"></graphic></fig><fig id="F2" position="float"><label>Figure 2</label><caption><p>Severely atrophied alveolar ridge and partial anodontia of the patient in the case report</p></caption><graphic xlink:href="CCD-3-74-g002"></graphic></fig><fig id="F3" position="float"><label>Figure 3</label><caption><p>Orthopantomogram showing horizontally impacted third molars and reduced bone density with severe bone atrophy in both maxilla and mandible of the patient in the case report</p></caption><graphic xlink:href="CCD-3-74-g003"></graphic></fig><fig id="F4" position="float"><label>Figure 4</label><caption><p>Lateral cephalogram showing prognathic relation of the mandibular to the maxilla of the patient in the case report</p></caption><graphic xlink:href="CCD-3-74-g004"></graphic></fig></sec><sec id="sec2-5"><title>Laboratory testing</title><p>The patient was tested for ALP levels, which were found to be 3 times lower than the normal values confirming the diagnosis of hypophosphatasia. Long bone radiographs appeared normal. Treatment for this patient was planned keeping in mind her psychological aspect, young age and severe bone loss with partial anodontia. It was carried out step by step in various phases: rehabilitating the periodontal condition with non-surgical intervention that included complete oral prophylaxis and curettage; extractions of the unwanted root stumps; and, root canal treatment of 11, 16 and 27. Patient was thus prepared for prosthetic intervention to replace missing teeth, improve the jaw relation and establish a comfortable working occlusion for the young girl. Besides, her extraoral features like sunken cheeks, depressed mentolabial sulcus and decreased nasolabial angle were also kept in mind while fabricating the dentures. As the alveolar ridges were severely resorbed, conventional complete denture or partial denture fabrication was ruled out. Implant retained prosthesis was also not an option as bone height was very less due to resportion, and the distance between the bone crest and the occlusal level was more, which would have led to an unfavourable crown: implant ratio. Hence, it was decided to restore the missing teeth and occlusion with maxillary overdenture and mandibular cast partial denture, as this was the most favourable and conservative option for this young girl with severe bone loss and lost psychological confidence.</p><p>After the pre-treatment procedures, the tentative aesthetic anterior try-in was performed [<xref ref-type="fig" rid="F5">Figure 5</xref>] and improved aesthetics with adequate lip fullness and improved inter arch relationship was observed. The root canal treated teeth was carried out for the abutment teeth (11, 16 and 27), followed by the fabrication of post integrated metal copings [<xref ref-type="fig" rid="F6">Figure 6</xref>]. Mandibular cast partial metal framework was planned with a ring clasp placed on 37 and embrasure clasps on 46 and 47. Mesh framework was designed to cover the edentulous ridge span [<xref ref-type="fig" rid="F7">Figure 7</xref>]. Following this, jaw relation and final try-in was done. The regular procedures for overdenture and cast partial denture fabrication were carried out in the lab, followed by final denture insertion [<xref ref-type="fig" rid="F8">Figure 8</xref>]. After placement of the dentures, we could appreciate the restored aesthetics, improved occlusion and an established vertical dimension for this young girl with a better functional occlusion that improved her speech, mastication and most importantly, her self confidence. The post operative frontal and lateral profile view depicted an improvement over the depressed mentolabial sulcus, and an increased and more acceptable nasolabial angle and cheek bulging, with an improved normal interjaw relationship. [Figures <xref ref-type="fig" rid="F9">9</xref> – <xref ref-type="fig" rid="F10">10</xref>] Patient was more confident with her improved aaesthetic smile and restored occlusion.</p><fig id="F5" position="float"><label>Figure 5</label><caption><p>Tentative aesthetic anterior try-in of the patient in the case report</p></caption><graphic xlink:href="CCD-3-74-g005"></graphic></fig><fig id="F6" position="float"><label>Figure 6</label><caption><p>Post intergrated metal copings for the root canal treated abutment teeth (11, 16 and 27) of the patient in the case report</p></caption><graphic xlink:href="CCD-3-74-g006"></graphic></fig><fig id="F7" position="float"><label>Figure 7</label><caption><p>Mesh framework of Cast partial denture for the mandibular arch of the patient in the case report</p></caption><graphic xlink:href="CCD-3-74-g007"></graphic></fig><fig id="F8" position="float"><label>Figure 8</label><caption><p>Intra-oral post-operative view after maxillary overdenture and mandibular cast partial denture insertion in the mouth of the patient in the case report</p></caption><graphic xlink:href="CCD-3-74-g008"></graphic></fig><fig id="F9" position="float"><label>Figure 9</label><caption><p>Post-operative extra-oral frontal view with aesthetic smile, and adequate lip and cheek fullness in the patient in the case report</p></caption><graphic xlink:href="CCD-3-74-g009"></graphic></fig><fig id="F10" position="float"><label>Figure 10</label><caption><p>Post-operative extra-oral lateral profile view showing improved nasolabial angle, mentolabial sulcus and inter jaw relationship</p></caption><graphic xlink:href="CCD-3-74-g010"></graphic></fig></sec></sec><sec sec-type="discussion" id="sec1-2"><title>Discussion</title><p>Initially recognized by Rathbun in 1948, hypophosphatasia is a rare inborn error of metabolism caused by low activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). At least six clinical forms of hypophosphatasia have been reported, although form assignment is often challenging. The age when skeletal lesions are discovered determines the type. Two other forms include odontohypophosphatasia (no clinical changes in long bones are present, only biochemical and dental manifestations) and pseudohypophosphatasia. The latter is clinically indistinguishable from infantile hypophosphatasia, because serum ALP activity is normal.[<xref ref-type="bibr" rid="ref7">7</xref>] The form od hypophosphatasia a patient is in, should be considered before making a dental treatment planning. There are less skeletal deformities; however, more dental symptoms at the odontohypophosphatasia form as in our case. Therefore normal aesthetics and function can be provided with prosthetic rehabilitation. Several authors have reported that dentin structure is reduced in thickness and also mineral content of dentin is low in hypophosphatasia. One should be aware of the perforation risk of pulp chamber during tooth preparation. Also in this case as the number of teeth present were very few, it was difficult to obtain support to restore function by conventional prosthesis. The patient's anxiety was also of concern during the treatment period, as the patient was young and apprehensive about how the treatment would proceed, and about the final outcome. However, constant motivation of the patient and her family led to the successful completion of treatment.</p></sec><sec id="sec1-3"><title>Summary</title><p>A patient with hypophosphatasia, presenting with partial anodontia and highly resorbed ridges with severely constricted maxillary arch, was treated successfully with cast partial denture in mandibular arch, and an overdenture for the maxillary arch. The occlusion was restored to a functional form, and the patient was highly satisfied with the aaesthetic outcome of the treatment. Thus, to conclude, a patient with hypophosphatasia poses a challenge for the clinician, especially when the patient is of young age as such patients have high expectations; however, a thorough diagnosis, constant motivation and critical evaluation of all treatment options and correct treatment planning and selection can lead to a successful treatment for our patients. This case presentation is different as it presents a complete intra as well as extra oral rehabilitation of a young girl with hypophosphatasia, and with severely resorbed ridges, in whom conventional treatment planning was not possible. Besides, managing the aesthetics, function and occlusion along with improving the extra-oral appearance of the patient posed a great challenge.</p></sec></body><back><fn-group><fn fn-type="supported-by"><p><bold>Source of Support:</bold> Nil.</p></fn><fn fn-type="conflict"><p><bold>Conflict of Interest:</bold> None declared.</p></fn></fn-group><ref-list><ref id="ref1"><label>1</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Chappie</surname><given-names>IL</given-names></name></person-group><article-title>Hypophosphatasia. 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