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Pycnodysostosis:Orofacial Manifestations in Twopediatric Patients

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Pycnodysostosis:Orofacial Manifestations in Twopediatric Patients Pycnodysostosis:orofacial manifestations in twopediatric patients AnneC. O’Connell,BDentSc, MSMichael T. Brennan,DDS Clair A. Francomano,MD ycnodysostosis (PKND)is a rare autosomal re- imperfecta.12 Unlike osteopetrosis, hepatosplenomegaly cessive skeletal abnormality acknowledgedas a and anemia are rare in PKNDdue to the presence of p distinct entity by Maroteuxand Lamyin 1962.1 active medullary hematopoiesis.13The primary differ- Morethan 150 cases have been reported from all racial ence betweenPKND and cleidocranial dysplasia is that groups and more than 30%of cases are the product of dense and brittle bones are found in PKND,not in consanguineousparents. 2 A review of 78 cases by Sedona cleidocranial dysplasia.12Fractures of the extremities in and associates3 found a 1:1.6 male predilection, while PKNDare commonin childhood, but the incidence 54 cases reviewedby Mutofound a slight 1:1.3 female appears to decrease in adulthood, probably because predominance.4 Patients with PKNDusually have nor- patients have modifiedtheir lifestyle to avoid injury. mal5 intelligence, sexual development,and life spans. Whetheror not bone healing is normalin patients with The clinical manifestations of PKNDcommonly PKNDis controversial. Most fractures heal in these include increasedbone density, bonefragility, and short patients, however, a recent radiographic survey of 14 stature. Other clinical features include skull deformi- patients indicated a commonoccurrence of nonunion, ties with open cranial sutures, an obtuse gonial angle, stress-fracture lines, and little uptakeof technetiumin hypoplasticparanasal sinuses, dysplasticlateral clavicles, bone2 scans of recent fractures. shortened terminal phalanges, proptosis, blue sclera, Wereport on two siblings with PKND,present the and frontal/occipital bossing. Oral manifestations in- maxillofacial clinical features, and discuss management clude a flattened mandibular angle, grooved palate, issues for this type of patient. These patients are anterior crossbite, malpositionedteeth associated with the only children in the family. A family pedigree was an increased incidence of dental caries and periodon- obtained but no other memberexhibited any signs titis, hypoplastic maxilla and chin, delayed eruption of PKND. of permanentteeth, delayed exfoliation of deciduous teeth, hypoplasia of the roots, and obliterated Casereports pulp spaces.4.6-8 Case1 The locus for PKNDmaps to the human chromo- An 8-year, 1-month-old female was diagnosed some lq21.9 The defective gene has been identified with PKNDat birth, coinciding with the diagnosis of recently as that encoding cathepsin K, and PKNDis her older brother (Case 2) basedon clinical manifesta- nowclassified as a lysosomaldisorder caused by defec- tions. The patient reported a history of multiple tive tissue-specific expression of this enzyme.1°’ 11 fractures and presented with a cast on the right leg. Cathepsin K is a lysosomal cysteine protease that is The parents reported their daughter had ob- highly expressedin osteoclasts. It plays a majorrole in structive sleep apnea (OSA).Surgical correction the process of bone matrix resorption, and the defi- uvulopalatopharyngoplasty (UPP) and adenoidectomy ciency of this enzymein individuals with PKNDresults was attempted at age 4. However,OSA continued to in the inability to efficiently resorb bonematrix. There- be a problem and was being treated with continuous fore, continuous endosteal formation occurs in PKND positive air pressure during sleep. Thepatient’s height without resorption and remodelling by osteoclasts, was106.8 cm, well belowthe third centile for her age. leading to an increased generalized sclerosis of bones. The patient has frontal bossing with signs ofprop- Manyof the clinical features result directly from this tosis, apparent midface hypoplasia, and open mouth increase in bonedensity and fragility. posture (Fig 1). There is clear evidence of microg- Diagnosis of PKNDis based on the clinical presen- nathia with an increased lower face height. A high tation, and medical treatment for the condition is arched palate with a deep groove was present (Fig 2), symptomatic. The differential diagnoses of PKNDin- with significant dental crowdingof the upper arch. clude osteopetrosis, acroosteolysis, mandibuloacral An edge-to-edge anterior occlusal relationship was dysplasia, cleidocranial dysplasia, and osteogenesis present, with recession of 2 mmon the facial of the 204 AmericanAcademy of Pediatric Dentistry Pediatric Dentistry - 20.’3, 1998 Fig. 3. Anterior edge to edge malocclusion with severe crowding and upper and lower gingival recession. Fig. 2. Characteristic oral features include deeply grooved palate and upper anterior crowding. Fig. 1. Profile of patient with PKND Case 2 demonstrating micrognathia, mild proptosis, This patient was the 9-year, 5-month-old brother and steep mandibular plane. lower right cen of Case 1. Medical history was significant for tral incisor, and on labial surfaces of the upper primary pycnodyostosis and a penicillin allergy. The patient central incisors (consistent with traumatic occlusion, was diagnosed with PKND at 12 months of age, hav- Fig 3). Mandibular crowding was evident, with early ing experienced multiple fractures of the extremities. loss of the primary canines. Active decay was observed The patient's height was 117.3 cm, demonstrating the in two teeth. Clinically, the teeth appeared normal in short stature associated with this disease. He had fron- morphology and color. tal bossing, mild proptosis, and blue sclera. Radiographic examination revealed characteristic Additionally, the patient exhibited brachydactyly with straightening of the mandibular angle with an exagger- broad thumbs and spoon-shaped fingernails. Severe ated mandibular notch. The tooth buds of all dental crowding was present with an anterior edge-to- permanent teeth are present (Fig 4). The dental matu- edge malocclusion, early loss of primary canines, rity score using the method of Demirjian et al.H was 7.5 labially positioned lower central incisors, and gingi- years and correlated well with a chronological age of 8.1 val recession. The patient also had a grooved palate. years. However, dental eruption was significantly de- Clinically, the teeth appeared normal in morphol- layed with probable impaction of the permanent first ogy and color. Active decay was evident in four teeth, molars due to the dental crowding. The cephalometric with existing restorations on seven teeth. Generalized radiograph demonstrates the obtuse mandibular angle gingivitis with moderate plaque was present. Dental (162°) pathognomonic features of PKND, the elon- maturity was evaluated using the method of Demirjian gated coronoid and articular processes, and the et al.'4 and was calculated to be 9.2 years compared exaggerated mandibular notch (Fig 5). The loss of the to the patients chronological age of 9.5 years. Although normal angle between the ramus and the body of the the dental age is appropriate, dental eruption was sig- mandible affects all cephalometric values. The lambdoid nificantly delayed, as both upper permanent first suture is significantly open. Bone mineral density val- molars had not yet erupted. Radiographically, the lack ues of the spine were 1.7 standard deviations above the of the mandibular angle and the exaggerated mandibu- mean of an age-matched control, demonstrating the os- lar notch are evident, the second premolars are absent, teosclerosis in this disease. and the lower permanent second molars are develop- ing in an abnormal orientation (Fig 6). Fig. 4. Panoramic radiograph shows obtuse Fig. S. Cephalometric radiograph shows Fig. 6. Radiograph shows small mandible, lack gonial angle, elongated coronoid and articular micrognathia with straightened mandibular of ramus, severe crowding, absence of second processes, and severe crowding. angle, exaggerated mandibular notch, and an premolars, and the lower second molars open lambdoid suture. developing in an abnormal orientation. Pediatric Dentistry -20:3, 1998 American Academy of Pediatric Dentistry 205 Radiographicexamination revealed widening of the Excellent oral hygiene must be stressed in patients saggital suture and lambdoid sutures with wide-open with PKND.Pathogens associated with high levels of anterior and posterior fontanelles. There was evidence caries and periodontal disease are a real risk for the of diffuse sclerosis in both hands. Boneage was esti- development of osteomyelitis in the adult patient. mated to be 9 years, compatible with chronologic age Treatment of osteomyelitis is often very difficult of 9.5 years. Dual X-ray bone densitometry was per- in PKNDpatients, especially in the mandible. Treat- formed on the lumbar spine and the bone mineral ment includes drainage, antibiotic coverage, and density values were 2.6 standard deviations abovethe sequestrectomy.~8 Dueto the frequency of refractory mean of an age-matchedcontrol, consistent with the osteomyelitis in sclerosed bone, adjunctive hyperbaric diagnosis of PKND. oxygenmay also be necessary)3’ 19 The dental treatment plan for these patients is to Deficiencies of the maxilla and mandible and in- restore the decayedteeth and enroll the patients in a sufficient growth of the arches do not permit normal prevention program. Orthodontic treatment to relieve tooth alignment. Subsequent dental crowding makes crowding and impaction of teeth can be accomplished oral hygiene more difficult for PKNDpatients. In- by planned timely extractions, which mayalso improve ability
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