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 Table of Contents  
CASE REPORT
Year : 2016  |  Volume : 28  |  Issue : 4  |  Page : 416-419

Hand–Schuller–Christian disease with condylar aplasia: A rare and unique case


Department of Oral medicine and Radiology, Tamil Nadu Government Dental College and Hospital, Chennai, Tamil Nadu, India

Date of Submission03-Aug-2015
Date of Acceptance30-Jan-2017
Date of Web Publication21-Feb-2017

Correspondence Address:
Dr. Hemavathy Bhaskar Yesupogu
Department of Oral medicine and Radiology, Tamil Nadu Government Dental College and Hospital, Chennai, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jiaomr.JIAOMR_155_15

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   Abstract 

Langerhans cell histiocytosis (LCH) is characterized histologically by a monoclonal proliferation of large mononuclear cells accompanied by a prominent eosinophil infiltrate. The pathogenesis of LCH is unknown. Hand–Schüller–Christian (HSC) disease is a rare proliferative disorder in which pathological Langerhans cells (LCs) accumulate in various organs. The clinical manifestations arise as a result of accumulation and infiltration of the Langerhans cells in organs and tissues. HSC is characterized by a classic triad of exophthalmos, diabetes insipidus, and lytic lesions in the skull. It is usually manifested in children but can also affect adults. Here, we present a case of HSC disease in a 12-year-old boy with oral manifestations.

Keywords: Condylar aplasia, Hand-Schuller-Christian disease, Langerhans cell histiocytosis, oligodontia


How to cite this article:
Regu P, Yesupogu HB, Gopika MG. Hand–Schuller–Christian disease with condylar aplasia: A rare and unique case. J Indian Acad Oral Med Radiol 2016;28:416-9

How to cite this URL:
Regu P, Yesupogu HB, Gopika MG. Hand–Schuller–Christian disease with condylar aplasia: A rare and unique case. J Indian Acad Oral Med Radiol [serial online] 2016 [cited 2019 Jul 19];28:416-9. Available from: http://www.jiaomr.in/text.asp?2016/28/4/416/200622


   Introduction Top


Langerhans cell histiocytosis (LCH) was proposed by Nezelof in 1973. LCH is clinically classified into three types, namely, eosinophilic granuloma, Hand–Schuller–Christian (HSC) disease, and Letterer–Siwe disease.[1] HSC disease is a disease of histiocytic granuloma involving the organ systems such as the skin, lungs, and hypothalamus as well as the bone.[2] It is usually manifested in infants and childhood and rarely seen in adults.[3] The pathogenesis of LCH is unknown, however, there are some suggestions that LCH is caused by immunologic dysregulations. Here, we report a case of chronic disseminated LCH (HSC disease) with condylar aplasia and oligodontia of nonsyndromic association.


   Case Report Top


A 12-year-old boy was referred from the Institute of Child Health, Chennai to the Department of Oral Medicine and Radiology, with the chief complaint of missing teeth. His past medical history revealed that he had polyuria and was diagnosed with diabetes insipidus. He was on desmopressin nasal spray since the age of 8 years. Patient was unable to sleep if desmopressin was stopped. Past surgical history revealed that the patient underwent surgery under general anesthesia on his left ear at the age of 4 years because of discharge from the left ear; the surgical details were not available. Later, at the age of 6 years, he developed swelling over the right parietal bone region, for which biopsy was done; and the smear showed multinucleated histiocytic type of giant cells along with lymphocytes, plasma cells, and a good number of eosinophils and neutrophils. His anteroposterior and lateral skull X-ray showed a large osteolytic lesion on the right parietal bone. His ultrasonography of the abdomen was normal. The neutrophilic features were suggestive of histiocytosis X and the diagnosis was made, for which the patient underwent chemotherapy of inj. Vinblastine 4 mg for 6 weeks of continuation phase.

On extraoral examination, the patient showed facial asymmetry with deviated mandible towards the right side, protruded eye balls, retruded chin, and the condylar movement on right side was not elicited [Figure 1] and [Figure 2]. Intraoral examination revealed normal mouth opening which measured approximately 42 mm with jaw deviation towards the right side, and asymmetric maxillary and mandibular arches. Teeth present were 11, 21, 41, 42, 31, 33 with grade 2 mobility in 31, 41, 42, with reverse overjet [Figure 3] and [Figure 4]. His blood investigation revealed the following values: hemogloblin 12.5 gm/dl, total white blood cell count 6800 cells/mm 3, platelet 3.47 lakhs/mm 3, PCV 35.4 vol%, serum osmolality 310 mOsm/kg, urine osmolality 48 mOsm/kg, creatinine 0.9 mg/dl, urea 16 mg%, sodium 141 mmol/L, and potassium 4.0 mmol/L; peripheral smear showed microcytic hypochromic anaemia.
Figure 1: Frontal view shows facial asymmetry

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Figure 2: Lateral profile view

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Figure 3: Lower jaw with oligodontia

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Figure 4: Upper jaw with oligodontia

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Orthopantomogram (OPG) revealed absence of condyle on the right side, impeded growth of ramus and body of the mandible on the right side, with very thin bony height and width, hypoplastic maxilla on both sides with aplastic maxillary sinus on the right and left side. Evidence of the presence of impacted first molar in all four quadrants was present with inadequate root formation. Teeth in follicle 27 and 37 did not show root formation corresponding to the chronological age. Teeth present were 11, 21, 31, 33, 41, and 42 [Figure 5]. Computed tomography (CT) revealed absence of right condyle, hypoplastic right mandibular body, and left coronoid process, maxilla with aplastic maxillary sinuses on both sides. Evidence of floating of teeth was seen [Figure 6]. With the above findings, provisional diagnosis of HSC disease with condylar aplasia on the right side with oligodontia was made.
Figure 5: OPG shows condylar aplasia on right side and oligodontia

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Figure 6: CT shows right condylar aplasia

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   Discussion Top


LCH, formerly called histiocytosis X, comprises a group of conditions that are characterized histologically by a monoclonal proliferation of large mononuclear cells accompanied by a prominent eosinophil infiltrate.[4] HSC disease is a widespread skeletal and extraskeletal lesion which is chronic in nature. HSC is primarily seen in infants and children and rarely among adults. LCH usually occurs in children between 1 and 15 years old, with a peak incidence between 5 and 10 years of age. The yearly incidence was thought to be 1 in 200,000 in children under the age group of 10 years. It is more commonly seen in males than females in the ratio of 2:1.[5] HSC characterized by a classic triad of exophthalmos, diabetes insipidus, and calvarial lytic lesions is seen only in one-third of the patients. In this paper, patient fulfilled the classic triad with polyuria.

Oral manifestations are the earliest signs in approximately 5–75% of the patients, which includes sore mouth, halitosis, gingivitis, unpleasant taste, loose teeth, and failure of extracted tooth sockets to heal. Loss of supporting bone mimics advanced periodontal disease.[5] The present case also showed interdental bone loss in lower anteriors. Radiographic examination reveals that individual lesions, particularly in the skull, are sharply outlined. Sometimes extensive alveolar involvement causes the teeth to appear as if they are “floating in air.”[4] In our case, there was hypoplastic maxilla and mandible with absence of multiple teeth, where remaining teeth appeared “floating,” with an osteolytic lesion seen on the parietal bone region.

Agenesis implies absence of an organ, and aplasia, lack of development of an organ or tissue. Aplasia of the mandibular condyle is one among manifestations in syndromes including hemifacial microsomia, Goldenhaar's syndrome, and Treacher Collin's syndrome.[6] Nonsyndromic occurrence of aplasia of condyle is extremely rare, however, few cases have been reported previously. It is not a manifestation of HSC disease, however, in the present case, it was present, which may be a coincidental finding. The etiology remains unknown. The incidence is estimated to be 1 in 5600 births with  Treacher Collins syndrome More Details.[6] According to Harvold (1983), there can be growth despite absence of condylar cartilage if there are no functional problems. Such growth can also occur not only in congenital but also in acquired defects. In the present case, the patient presented with facial asymmetry with deviation of the mandible towards the right, with absence of condyle on the right side.

Oligodontia is a term that refers to the absence of 6 or more teeth excluding third molar.[7] The etiology of tooth agenesis is unknown. Oligodontia has a population prevalence of 0.3% in the permanent dentition. Tooth agenesis is reported more often in females than in males, and more commonly in maxilla than mandible. Oligodontia can occur in association with syndromes, such as ectodermal dysplasia, incontinentia pigmenti, Down syndrome, Rieger syndrome, Wolf–Hirschhorn syndrome, Van Der Woude syndrome, oral facial digital syndrome Type I, Witkop tooth-nail syndrome, Fried syndrome, and hair-nail-skin-teeth dysplasia. However, in our present case, patient presented with absence of 18 permanent teeth.

Multidisplinary team approaches involving various health care specialities are utilized in the treatment of HSC disease. Patient was already under treatment for diabetes insipidus. As a member of this team, dental practitioner has a role in the management of HSC disease. Orthodontic intervention is not needed because tooth in the follicle does not show any root formation. Surgical intervention has to be done once the growth of jaw is complete. Prosthetic management can be given to improve appearance, esthetics, speech, and masticatory efficiency.


   Conclusion Top


This paper highlights one of the rare diseases afflicting children, with typical findings of HSC disease, with other unusual features such as unilateral condylar aplasia and oligodontia. Prompt diagnosis and treatment will improve life expectancy. Oligodontia cases should be evaluated carefully for any associated syndromes and managed appropriately. Patients suffering from oligodontia may have severe functional, esthetic, and psychological problems. Hence, the management of such patients generally requires a multidisciplinary approach. Aplasia of mandibular condyle is a rare entity producing functional and cosmetic disability, which requires early intervention to prevent facial asymmetries as well as other functional disorders.

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.
García de Marcos JA, Dean Ferrer A, Alamillos Granados F, Ruiz Masera JJ, Barrios Sánchez G, Romero Ortiz AI, et al. Langherhans cell histiocytosis in the maxillofacial area in adults: Report of three cases. Med Oral Pathol Cir Buccal 2007:12:145-50.  Back to cited text no. 1
    
2.
Kimura T, Ota K, Shoji M, Inoue M, Sato K, Ohta M, et al. Hand-Schuller-Christian disease with occult diabetes insipidus, cardiac failure and renal dysfunction. JPN J Med 1990;29:405-10.  Back to cited text no. 2
    
3.
Mener DJ, Moskowitz HS, Stewart CM. Temporal bone involvement in Hand-Schuller-Christian disease. Otol Neurotol 2014;34:16688-97.  Back to cited text no. 3
    
4.
Lalitha Ch, Manjula M, Srikant K, Goyal S, Tanveer S. Hand-Schuller-Christian disease: A rare case report with oral manifestation. J Clin Diagn Res 2015:9:28-30.  Back to cited text no. 4
    
5.
Bhargava D, Bhargava K, Hazarey V, Ganvir SM. Hand-Schuller-Christian disease. Indian J Dent Res 2012;23:830-2.  Back to cited text no. 5
[PUBMED]  Medknow Journal  
6.
Krogstad O. Aplasia of the mandibular condyle. Eur J Orthod 1997;19:483-9.  Back to cited text no. 6
    
7.
Shimizu T, Maeda T. Prevalence and genetic basis of tooth agenesis. Jpn Dent Sci Rev 2009;45:52-8.  Back to cited text no. 7
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]



 

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