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 Table of Contents  
CASE REPORT
Year : 2015  |  Volume : 27  |  Issue : 2  |  Page : 318-321

Pyknodysostosis: A rare case report


1 Department of Oral Medicine and Radiology, Maharana Pratap College of Dentistry and Research Centre, Gwalior, Madhya Pradesh, India
2 Department of Oral Medicine and Radiology, KD Dental College and Hospital, Mathura, Uttar Pradesh, India

Date of Submission05-Oct-2014
Date of Acceptance08-Oct-2015
Date of Web Publication21-Nov-2015

Correspondence Address:
Deepti Bhardwaj
Jagdish Kripa, Besides Harinirmal Cinema Hall, Nai Sadak Lashkar, Gwalior - 474 001, Madhya Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-1363.170175

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   Abstract 

Pyknodysostosis is a rare autosomal recessive disorder characterized by the postnatal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges, a feature that is considered essentially pathognomonic. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuses, and obtuse mandibular gonial angle with relative mandibular prognathism. Here, we report a case of pyknodysostosis found to be having the classical features during intraoral examination and general physical examination.

Keywords: Acro-osteolysis, cleidocranial dysplasia, osteopetrosis, pyknodysostosis


How to cite this article:
Bhardwaj D, Raghav N, Mohan V, Singh P. Pyknodysostosis: A rare case report. J Indian Acad Oral Med Radiol 2015;27:318-21

How to cite this URL:
Bhardwaj D, Raghav N, Mohan V, Singh P. Pyknodysostosis: A rare case report. J Indian Acad Oral Med Radiol [serial online] 2015 [cited 2019 Aug 23];27:318-21. Available from: http://www.jiaomr.in/text.asp?2015/27/2/318/170175


   Introduction Top


Pyknodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. The disease has also been named Toulouse-Lautrec syndrome, after the French artist Henri de Toulouse-Lautrec, who (it has been surmised) suffered from the disease. In 1996, the defective gene responsible for pyknodysostosis was located, offering accurate diagnosis, carrier testing, and a more thorough understanding of this disorder. It is an autosomal recessive osteochondrodysplasia, usually diagnosed at an early age with incidence estimated to be 1.7 per 1 million births. Pyknodysostosis is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K (CTSK). [1]

Pyknodyostosis occurs in both sexes in varying age groups. The principle features of the syndrome such as short stature, open fontanels, frontal and parietal bone bossing, open sutures and fontanels, straightened mandible (obtuse angle of the mandible), dysplastic clavicles, and total or partial aplasia of terminal phalanges are the other classical features; bone also becomes sclerotic with high future susceptibility. Radiographically, there is hypoplasia of facial bones, non-pneumatization of paranasal sinuses, and partial or complete aplasia of distal phalanges. Crowding of the teeth with multiple impacted supernumerary teeth is the prominent intraoral feature of the disease. Other intraoral features include high-arched palate, enamel hypoplasia, and obliterated pulp chambers. [2]


   Case Report Top


A 55-year-old male reported to the Department of Oral Medicine and Radiology with a chief complaint of pain and pus discharge in his all teeth since 2 months. Personal history revealed lack of brushing; patient swished his oral cavity with water in the morning and after every meal and used neem stick three to four times a week. On general physical examination, he demonstrated frontal bossing and hypoplastic midface, with relative mandible prognathism and nail abnormalities [Figure 1] [Figure 2] [Figure 3]. Intraoral examination revealed inflamed gingiva with pus discharge in all the teeth. On hard tissue examination, high-arched palate, multiple retained deciduous teeth, crowding, and enamel hypoplasia were found [Figure 4]. No history of pathological fracture and parental consanguinity was reported. On the basis of clinical findings, a provisional diagnosis of chronic generalized periodontitis was made and on the basis of general examination and intraoral features, pyknodyostosis was suspected and further investigations were carried out.
Figure 1: Extraoral photograph showing facial asymmetry

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Figure 2: Extraoral photograph showing frontal bossing

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Figure 3: Right index fi gure showing nail abnormality

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Figure 4: Intraoral photograph showing crowding of teeth in upper and lower arches

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Panoramic radiograph (OPG) showed multiple impacted permanent and supernumerary teeth in both maxillary and mandibular arches [Figure 5]. Lateral cephalogram showed relative mandibular prognathism and hypoplastic midface [Figure 6]. Posteroanterior (PA) view of the skull revealed absence of frontal sinus and hypoplastic paranasal sinuses [Figure 7]. Hand wrist radiograph showed acro-osteolysis of terminal phalanges [Figure 8]. Computed tomographic scan (CT) scan revealed multiple wormian bones along the sagittal and lambdoid sutures. All the sutures were closed, but not fused [Figure 9]. The differential diagnosis included osteopetrosis, idiopathic acro-osteolysis, and cleidocranial dysplasia. In the treatment plan, the patient was advised oral prophylaxis and medication, i.e. Cap. Doxycycline 100 mg BD for the first day followed by OD dose for the next 4 days, Tab. Serratiopeptidase 10 mg and Diclofenac potassium 50 mg combination BD for 5 days, and Chlorhexidine mouthwash 0.2% w/v BD for 5 days. Patient was also advised extraction of over-retained deciduous teeth followed by reconstruction surgery and prosthesis placement.
Figure 5: OPG showing multiple impacted teeth in lower and upper arches

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Figure 6: Lateral cephalogram showing hypoplastic midface and obtuse gonial angle

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Figure 7: PA view showing absence of frontal sinus

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Figure 8: Hand wrist radiograph showing acro-osteolysis of terminal phalanges

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Figure 9: CT scan of head showing closed sutures, but not fused

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   Discussion Top


Pyknodysostosis is an autosomal recessive disorder of bone, causing osteoclast dysfunction resulting in osteosclerosis. The sclerosing activity of pyknodysostosis is due to a genetic defect on chromosome 1q21. This anomaly consists of mutations that produce mutational changes in a lysosomal cystine protease, CTSK, the expression of which is reduced in the osteoclasts. This protease is responsible for degrading Type 1 collagen that constitutes 95% of the organic bone matrix. The affected bones are abnormally dense and brittle as a result of insufficient resorption. [3],[4],[5]

The general features present in our case were short stature, nail abnormalities, and acro-osteolysis. Radiographs revealed over-retained deciduous teeth with multiple impacted permanent and supernumerary teeth, enamel hypoplasia, and crowding. Also, midface hypoplasia, obtuse mandibular angle with relative prognathism, and hypoplastic paranasal sinus were found in the lateral cephalogram and PA view. The CT scan showed wormian bones along the lamboidal sutures; also, it revealed that the sutures were closed but not fused. These findings correlate with those reported by Hunt et al., Landa et al., and Schmitz et al. [6],[7],[8]

The differential diagnosis of pyknodysostosis includes osteopetrosis, cleidocranial dysplasia, and idiopathic acro-osteolysis. In osteopetrosis, the bone marrow may be absent; therefore, hematopoietic alterations may appear frequently. Signs of compression of the cranial nerves exist, such as facial paralysis, deafness, or pain. Cleidocranial dysplasia may seem like pyknodysostosis in the presentation of clavicular agenesis or aplasia, as well as alterations of the skeletal bone membranes; however, bone density is not increased. In idiopathic acro-osteolysis, the appearance of the patients is typical, with hypotelorism, exophthalmoses, and an upturned nose. The angle of the mandible is acute and increased bone density is not present. [6] The diagnosis of pyknodysostosis is primarily based on the clinical features and radiographs; however, a CTSK gene mutation analysis is the confirmatory test. [1]

There is no specific treatment as of date for this disorder and treatment is supportive. Crowding can be dealt with planned extraction of retained deciduous teeth. Orthodontic treatment is not recommended because low remodeling capacity of the bone puts the patient at high risk of orthodontic failure. Extraction of tooth of these patients should be carried out with caution to avoid fracture of jaw bone and post-extraction osteomyelitis. The prognosis of this disease is good and no serious systemic alterations have been noted. Also, life expectancy for a pyknodyostosis patient is normal. [2],[3]

Declaration of Patient Consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Mujawar Q, Naganoor R, Patil H, Thobbi AN, Ukkali S, Malagi N. Pycnodysostosis with unusual findings: A case report. Cases J 2009;2:6544.  Back to cited text no. 1
    
2.
Nirupama C, Sarasakavitha D, Palanivelu S, Guhan B. Pyknodyostosis: A case report or rare entity. J Indian Acad Oral Med Radiol 2013;25:161-3.  Back to cited text no. 2
    
3.
Ramaiah KK, George GB, Padiyath S, Sethuraman R, Cherian B. Pyknodyostosis: Report of a rare case with review of literature. Imaging Sci Dent 2011;41:177-81.  Back to cited text no. 3
    
4.
Motyckova G, Fisher DE. Pycnodysostosis: Role and regulation of cathepsin K in osteoclast function and human disease. Curr Mol Med 2002;2:407-21.  Back to cited text no. 4
    
5.
Elmore SM. Pycnodysostosis: A review. J Bone Joint Surg Am 1967;49:153-62.  Back to cited text no. 5
    
6.
Hunt NP, Cunningham SJ, Adnan N, Harris M. The dental, craniofacial, and biochemical features of pyknodysostosis: A report of three new cases. J Oral Maxillofac Surg 1998;56:497-504.  Back to cited text no. 6
    
7.
Landa S, Esteban S, Montes E, Santamaria J, Vitoria A, Santolaya JM. Maxillofacial alterations in a family with pycnodysostosis. Med Oral 2000;5:169-76.  Back to cited text no. 7
    
8.
Schmitz JP, Gassmann CJ, Bauer AM, Smith BR. Mandibular reconstruction in a patient with pyknodysostosis. J Oral Maxillofac Surg 1996;54:513-7.  Back to cited text no. 8
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]



 

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