|Year : 2015 | Volume
| Issue : 4 | Page : 620-624
Familial primary osteoarthropathy: A case report with unusual dental findings
Vela D Desai1, Sunil MV Kumar2, Sahil Maghu1
1 Department of Oral Medicine and Radiology, Jaipur Dental College, Jaipur, Rajasthan, India
2 Department of Prosthodontics, Jaipur Dental College, Jaipur, Rajasthan, India
|Date of Submission||24-Apr-2015|
|Date of Acceptance||18-May-2016|
|Date of Web Publication||19-Aug-2016|
Dr. Vela D Desai
B: 406, Trimurthy Apartments, Opposite BSNL Telecom Colony, Malviya Nagar, Jaipur- 302 017, Rajasthan
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Pachydermoperiostosis (PDP) is a rare osteo-arthro-dermopathic syndrome, the diagnosis of which can be made on the basis of the classic clinical and radiological presentations. The primary form of the disease, also called as Touraine-Solente-Gole Syndrome, contributes to approximately 3-5% of the cases of hypertrophic osteoarthropathy (HOA). The authors present here a rare case of familial primary osteoarthropathy with significant dental findings which, to the best of our knowledge, is seldom reported in English literature.
Keywords: Clubbing, counselling, joint effusion, primary hypertrophic osteoarthropathy, treatment
|How to cite this article:|
Desai VD, Kumar SM, Maghu S. Familial primary osteoarthropathy: A case report with unusual dental findings. J Indian Acad Oral Med Radiol 2015;27:620-4
|How to cite this URL:|
Desai VD, Kumar SM, Maghu S. Familial primary osteoarthropathy: A case report with unusual dental findings. J Indian Acad Oral Med Radiol [serial online] 2015 [cited 2022 Dec 3];27:620-4. Available from: http://www.jiaomr.in/text.asp?2015/27/4/620/188777
| Introduction|| |
Hypertrophic osteoarthropathy (HOA) is a syndrome characterized by the triad of periostitis, digital clubbing, and painful swollen joints.  HOA was described for the first time in literature by Friedreich in 1868  and then by Touraine, Solente, and Gole in 1935.  Radiographically, bilateral, symmetrical presentation of subperiosteal new bone formation in the long bones of the lower extremities is essential for the diagnosis of HOA. The disease falls into two categories: Primary and secondary HOA. Secondary HOA is usually due to underlying causes like neoplasias, infections, congenital cyanotic heart diseases, etc., Primary/idiopathic HOA (PHOA) is usually a rare hereditary disorder, as presented in this case report wherein two of the patient's siblings as well as his father had features of PHOA. Idiopathic form comprises about 3-5% of all cases of HOA; however, its prevalence in the general population is unknown.  A prevalence of 0.16% has been reported by Jajic and Jajic.  PHOA manifests in adolescence, and runs a chronic course, occurring almost exclusively in males, with a male to female ratio of 7-9:1. It is associated with significant morbidity with advancing age. ,
| Case Report|| |
A 38-year-old male patient [Figure 1] reported to the outpatient Department of Oral Medicine and Radiology with the chief complaint of pain in upper left back tooth region since last 3 months and wanted to get the tooth extracted. Pain was moderate, localized, aggravated on chewing food, and was relieved on medication. Medical history revealed that the patient was a diagnosed case of PHOA with myelofibrosis and empty sella syndrome. The medical history revealed that he was apparently alright till the age of 19 years, after which he gradually developed complaints of easy fatigability, swelling, and pain in the distal part of extremities [Figure 2] and clubbing of nails. His medical records revealed grade IV clubbing, and anemia with values of hemoglobin being as low as 5.8 g/dl. Other laboratory reports like differential count, urea creatinine, lipid profile, etc. were normal. Dermatological examination showed increased sebaceous hyperplasia with horizontal furrowing on the forehead and palmoplantar keratosis. Radiographs of forearm revealed a cortical thickening bilaterally in radius and ulna. Bony outgrowths were seen from distal ends. Periosteal changes were also appreciable in the lower limbs [Figure 3]. Ultrasonography of abdomen revealed splenomegaly. Patient underwent synovectomy for left knee and surgery for right knee joint. No history of consanguineous marriage in the family was reported. A complete medical history of all the blood-related family members was recorded and they were examined. His father presented with clubbing [Figure 4] and his elder sister had apparently died due to severe anemia at the age of 25 years. His younger sister, aged 35 years, also had features of anemia with grade III clubbing [Figure 5]. She was on medication for hyperthyroidism and history of repeated blood transfusion was positive. Clinically, she presented with geographic tongue [Figure 6], but no skeletal changes were noticed. Her oral hygiene was otherwise good. Previously, the patient had undergone multiple extractions and prosthetic rehabilitation. General physical examination of the patient revealed pachyderm and thickening of skin folds over face [Figure 1]. The skin of his scalp and face was greasy and thickened and he had deep nasolabial folds, prominent nose, bilateral clubbing of fingers and toes. Ophthalmic examination revealed thickened eyelids with a clear vision. Because of the mechanical ptosis, he had a history of repeated eye infection as his upper eyelid would touch the skin of face and was under treatment for the same. All the vital signs were found to be within normal range.
|Figure 1: Extraoral profile view depicting deep furrows and swelling of the eyelids|
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|Figure 6: Geographic tongue in the sibling with the forme fruste type of PDP|
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Intraoral examination revealed relatively fair oral hygiene. It revealed generalized attrition and recession and moderate amount of calculus and stains leading to generalized periodontitis. He had a fixed prosthesis in second and fourth quadrants, with which he was unsatisfied. Multiple root stumps and grossly decayed tooth were appreciated in all quadrants. Another interesting finding was a uniformly enlarged and bulky upper right alveolar ridge [Figure 7] which was evident before and after extraction of the teeth.
|Figure 7: Bulky alveolar ridge as seen in the maxillary right quadrant after extraction|
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After a written consent was obtained from the patient and the physician, the patient was subjected to radiographic study. Orthopantomograph [Figure 8] revealed multiple grossly destructed teeth leading to chronic periapical abscesses. Inferior border of the mandible appeared dense and going upward bilaterally as unusually dense sclerosis of bone [Figure 8] bordering the inferior alveolar canal. Lateral radiograph of the skull showed hyperostosis of the calvaria and dense enlarged diploe. The sella turcica [Figure 9] was unusually large with its inferior border not appreciable, probably suggestive of increased intracranial pressure resulting in empty sella syndrome. Anteroposterior radiograph of both hands showed enlargement of the distal fingers and clubbing and tufting of terminal phalanges [Figure 10]. A diagnosis of chronic generalized periodontitis, multiple periapical abscesses, and faulty prosthesis was made. Comprehensive treatment was planned for the patient. His family was counselled considering the hereditary potential of the disorder. Regular evaluation of his children for recognition of the symptoms at an early stage was made mandatory. Firstly, a through oral prophylaxis and extraction of all the unsalvageable teeth was implemented. Fabrication of a cast partial denture and replacement of the crowns was initiated. Regular follow-up to evaluate the medical and dental condition of the patient as well as his children was made mandatory.
|Figure 8: Digital orthopantomograph showing increased density at the inferior border of the mandible and the mandibular canal|
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|Figure 9: Lateral cephalogram showing increased density of the diploe. Increased size of the sella is seen|
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| Discussion|| |
PHOA, also known as Touraine-Solente-Gole Syndrome, is inherited as an autosomal dominant trait and is of variable degree of expression.  Symptoms usually begin at about 1 year of age or during adolescence, either before or after puberty, and the symptoms decline within one or two decades. The primary form of the disease presents with insidious presentation of clubbing giving a "spade-like" enlargement of the digits (unlike rapidly in the secondary form), periostitis of long bones (less reported in short and flat bones), and mono- or polyarthritis. The thickened forehead, thrown into transverse folds, giving the face a "leonine" appearance, periarticular and subperiosteal periostitis or bone formation, with consequent enlargement of the hands and feet, joint deformities, neurological disturbances, paronychial thickening, arthralgias, seborrheic dermatitis, mechanical ptosis of thickened eyelids, periodontal diseases, palmoplantar hyperhidrosis, gynecomastia, hypertrophic gastropathy, bone marrow failure, acne vulgaris, folliculitis, etc., are some of the presentations reported in the literature. ,,,,
Touraine et al. described three forms of pachydermoperiostosis (PDP), viz., classic or complete form, with skin and skeletal changes; incomplete form, with skeletal changes but no dermal findings; and forme fruste with dermal changes but no skeletal findings.  The etiology of primary HOA is still unclear; however, several theories have been suggested like neurogenic and humoral theories. But they have been disapproved as they are not able to explain the development of all clinical disorders associated with HOA. Recently, the role of platelets has also been regarded as the cause. But definitely, further studies are required to better understand this disorder. ,,, An interesting observation in our case was the presence of a geographic tongue in the sibling. This association of geographic tongue with PHOA has not been reported earlier, although its association with fissured tongue is reported.  Whether the geographic tongue is a manifestation of PHOA or a coincidental finding needs to be further researched. Also, enlargement of the alveolar ridge has not been reported in literature. The lateral cephalogram showed an enlarged "J" shaped sella with a discontinued base suggestive of empty sella syndrome. A systematic study of a larger population of patients with PHOA is required before any conclusions can be drawn.
Medical care of PDP is palliative and includes nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, tamoxifen citrate, retinoids, and risedronate sodium to alleviate the painful polyarthritis/osteoarthropathy. Colchicine may be helpful to relieve the pain due to subperiosteal new bone formation. Colchicine inhibits neutrophil chemotaxis and tissue edema, thereby improving joint symptoms, pachyderma, and folliculitis. Steroids, pamidronate and bisphosphonate work by inhibition of osteoclasts and antiresorptive effect, and have been tried with promising results for rheumatological symptoms of HOA. Retinoids, by decreasing procollagen mRNA in fibroblasts, have shown improvements in pachyderma, seborrhea, acne, folliculitis, and cutis verticis gyrata. Botulinum toxin A (BTX-A) administration has been tried to provide temporary cosmetic improvement, apart from plastic and reconstructive surgery in cases of major disfigurement. Otherwise, reassurance is all that is required. So far, no medical treatment has been suggested to treat this morbidity. Prognosis for life is excellent, but the effect on function depends on the degree of bone and joint involvement.  Genetic and psychological counselling can be a part of the management protocol. Due to unavailability of genetic testing and heterogenic transmission of PHOA, educating the patient regarding the disorder is important, but little difficult. ,,,,
| Conclusion|| |
Pachydermoperiostosis is an uncommon hereditary disorder with variable expression. The authors have presented another such case of PHOA with myelofibrosis and empty sella syndrome. This was a classic or complete form of PHOA with new dental findings of enlarged alveolar ridge and thickened and dense inferior border of mandibular canal as well as periosteal changes (thickened) at the inferior border of mandible. This was a familial presentation wherein one of the siblings had forme fruste with dermal changes, along with hyperthyroidism and geographic tongue (not reported in literature before). Genetic as well as psychological counselling should be a part of the multidisciplinary approach.
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.
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Conflicts of interest
There are no conflicts of interest.
| References|| |
Kowalewski M, Urban M, Gὀrska A. Familial occurrence of primary hypertrophic osteoarthropathy: A case report. Med Sci Monit 1997;3:229-34.
Friedreich N. Hyperostose des gesammten Skelettes: Virchows. Arch Pathol Anat 1868;43:83-7.
Touraine A, Solente G, Golẻ L. Un syndrome osteodermatopathique: La pachydermieplicaturẻẻ avec pachyẻriostose des extrẻmitẻs. Press Med 1935;43:1820-4.
Jajic Z, Jajic I. Prevalence of primary hypertrophic osteoarthropathy in selected population. Clin Exp Rheum 1992;10:73.
Goyal S, Schwartz RA, Richards GM, Goyal R. Pachydermoperiostosis. Available from: http://www.emedicine.com
[cited on 2006]. [Last accessed on 2008 Apr 30].
Sahasrabhojaney VS, Hinge AV, Ghodeshwar SS, Machnurkar AS, Daware AM, Nagarik AP. Touraine-Solonte-Golẻ syndrome. J Indian Acad Community Med 2005;6:152-4.
Martínez-Lavín M, Matucci-Cerinic M, Jajic I, Pineda C. Hypertrophic osteoarthropathy: Concensus on its definition, classification, assessment and diagnostic criteria. J Rheumatol 1993;20:1386-7.
Matucci-Cerinic M, Lotti T, Jajic I, Pignone A, Bussani C, Cagnoni M. The clinical spectrum of pachydermoperiostosis (primary hypertrophic osteoarthropathy). Medicine (Baltimore) 1991;70:208-14.
Gilliland BC. Fibromyalgia, arthritis associated with systemic disease and other arthritis. In: Kasper DL, Braunwald E, Fauci AS, Hauser SL, Longo DL, Jameson JL, editors. Harrison′s Principle of Internal Medicine. United States of America: Mc-Graw Hill Companies Inc; 2005. p. 2055-64.
Angel-Moreno Maroto A, Martínez-Quintana E, Suárez-Castellano L, Pérez-Arellano JL. Painful hypertrophic osteoarthropathy treated with octreotide. The pathogenic role of vascular endothelial growth factor (VEGF). Rheumatology (Oxford) 2005;44:1327-8.
Uppal S, Diggle CP, Carr IM, Fishwick CW, Ahmed M, Ibrahim GH, et al
. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet 2008;40:789-93.
Rendina D, De Filippo G, Viceconti R, Soscia E, Sirignano C, Salvatore M, et al
. Interleukin (IL)-6 and receptor activator of nuclear factor (NF)-kappa B ligand (RANKL) and increase in the serum of a patient with primary pachydermoperiostosis. Scand J Rheumatol 2008;37:225-9.
Athappan G, Unnikrishnan A, Chengat V, Chandraprakasam S, Arthanareeswaran V, Muthukrishnan S, et al
. Touraine Solente Gole Syndrome: The disease and associated tongue fissuring. Rheumatol Int 2009;29:1091-3.
Matucci-Cerinic M, Fattorini L, Gerini G, Lombardi A, Pignone A, Petrini N, et al
. Colchicine treatment in a case of pachydermoperiostosis with acroosteolisis. Rheumatol Int 1988;8:185-8.
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