International Journal of Dental and Health Sciences Case Report Volume 03, Issue 06

WITKOP’S SYNDROME: A RARE ENTITY DISCUSSED Umesh Manikrao Zende1, Raghavendra Satappa Byakodi2,Avinash Bhimarao Kshar3,Arati Gaurav Paranjpe4,Sunil Sudhakar Awale5,Neeta Nagnath Nilamwar6 1.Postgraduate Student,VPDC & H,Sangli 2.Professor & Guide, VPDC & H,Sangli 3.Professor & Head,VPDC & H,Sangli 4.Reader,VPDC & H,Sangli 5.Senior Lecturer,VPDC & H,Sangli 6.Postgraduate Student,VPDC & H,Sangli

ABSTRACT: Witkop’s syndrome also known as ‘tooth & nail syndrome’ or ‘nail dysgenesis & hyodontia’ is a rare autosomal dominant disorder characteristically presenting & morphological changes in teeth alongwith dysgenesis of nails. The incidence of Witkop’s syndrome is 1-2 in every 10,000 individuals. The present case describes a 17-year old male patient showing characteristic features of Witkop’s syndrome and multifaceted treatment provided to the patient. Keywords:Witkop’s syndrome, MSX1 gene, hypodontia, nail dysgenesis.

INTRODUCTION A 17-year-old male patient reported to our institution with the chief complaint of Witkop’s syndrome is a rare autosomal small teeth, generalized spacing between dominant disorder which was first teeth. Patient gave no positive history of described by Witkop in 1965.[1] The exfoliation or extraction of teeth but gave mesenchyme gene MSX1 which is a a history of delayed eruption of teeth. expressed in several When asked about his family history he embryonic structures, was proved to be gave a positive history of his father responsible for etiology of Witkop’s suffering from a similar complaint. He also syndrome in 2001.[2-4] It is characterized gave a history of slow growth of his toe by hypodontia and morphological changes nails, which also frequently tended to in teeth, along with dysgenesis of nails.[5-8] fracture. It is also known as the ‘tooth and nail syndrome’ (TNS) or ‘nail dysgenesis and A general examination revealed normal hypodontia’.[9] The clinical feature hair (both in growth and texture), associated with Witkop’s syndrome are eyebrows and skin. (Figure1). He had hypodontia and infrequently anodontia of dysplastic toe nails, no abnormalities were the permanent teeth in which seldom detected in the finger nails (Figure 2). more than 20 permanent teeth are missing.[10] On intraoral examination, 20 retained deciduous and 1 permanent teeth (left CASE DETAIL: maxillary first permanent molar) were present. All other permanent teeth were

*Corresponding Author Address: Dr.Sunil SudhakarAwaleEmail:[email protected] Zende U. et al., Int J Dent Health Sci 2016; 3(6): 1193-1198 missing clinically. All teeth were absent at birth.[5] Nail dysplasia is a attritedand generalized spacing was common feature in the Witkop’s present in both arches. Loss of vertical syndrome where nails tend to be spoon – dimension was noted. High frenal shaped (koilenchyia), thin, slow growing, attachment was seen in upper anterior brittle & easy to break (onychorrhexis). region. (Figure 3). The nail defects are however alleviated with age and may not be easily detectable OPG (Figure 4) revealed resorption of the during adulthood.[7, 9, 12-14] roots in both upper and lower anterior region.Sobased on the above extraoral& It is characterized by hypodontia and intraoral clinical findings, positive familial infrequently anodontia of the permanent history, a provisional diagnosis of teeth. Maxillary incisors, canines and Witkop’s syndrome was made. second molars are most commonly missing and the affected teeth tend to TREATMENT: After keeping in mind all the have narrow crowns & conical shape are needs and limitations of the adolescent widely spaced.[15-16] In Witkop’s syndrome patient & in order to provide esthetics partial or total agenesis of dentition is and optimum function, a multifaceted sometime present causes over retention approach was planned with cooperation of the primary teeth.[17] of Periodontist, Prosthodontist&Endodontist.Patient was Various genetic syndrome in which advised conservative tooth supported full oligodontia occurs include Ectrodactyly- mouth rehabilitation, endodontic Ectodermal Dysplasia-Clefting syndrome, treatment including RCT for Cleft Lip Palate Ectodermal Dysplasia 51,52,53,61,62,63 along with post and syndrome, Oral Facial Digital syndrome core for 53,63, frenectomy in upper type I , Witkop Tooth-Nail syndrome, Fried anterior region followed by crown syndrome, Hair- Nail- Skin- Teeth lengthening from 53 to 63 region (Figure 5 dysplasias, Ectodermal Dysplasia, & 6). IncontinentiaPigmenti, Down syndrome, Rieger syndrome, Wolf-Hirschhorn DISCUSSION syndrome, .[18- Witkop’s syndrome is rare autosomal 19] dominant disorder and variants of ectodermal dysplasia which occur Patient suffering from oligodontia are approximately one to two in every 10,000 mainly affected with significant individuals.[11] In Witkop’s syndrometooth psychological, functional and esthetic agenesis is accompanied by nail problems.[20] In the present case, the deformities such as the nail plates are patient was normothermic with normal defective and thinner.[2] In most sweat gland function. As compared to x- individuals with Witkop’s syndrome linked recessive hypohydrotic ED, the toenails are severely affected than finger dental anomalies are less sever in nails and in some cases nail plates are Witkop's syndrome.[7] Hair defects like 1194

Zende U. et al., Int J Dent Health Sci 2016; 3(6): 1193-1198 hypotrichosis & alopecia are not Non surgical treatment plan was adopted specifically associated with Witkop's as it was cost effective as compared to syndrome & anomalies of facial implant prosthesis. topography, such as frontal bossing, The patient was satisfied about his depressed nasal ridges, and everted lips, improved appearance & masticatory commonly seen in patients with x-linked function (Figure 7). Presently he is on recessive ED are not seen in Witkop's periodic regular follow up. syndrome.[8] CONCLUSION Dental treatment can vary depending on the severity of the disease and generally Witkop’s syndrome is a rare disorder requires a multidisciplinary approach. where patients present with hypodontia leading to functional disability. So, we as In our case, factors to be taken in dentists are accumstomed to provide a consideration before planning treatment proper diagnosis & multifaceted are age of the patient, number & treatment to restore the functional condition of retained teeth, condition of defects & provide a psychological boost supporting tissue, occlusion & by restoring proper esthetics to the interocclusal space. patient.

Conflicts of interest: No conflicts of interest recorded REFERENCES

1. Witkop CJ Jr. Genetic diseases of the craniofacial development.1991; oral cavity. In: Tiecke RW, editor. 113(2):601-11. Oral Pathology. New York: McGraw- 5. Shigly A, Reddy RPV, Hugar SM, Hill; 1965. Deshpande D. 2. Jumlongras, D., Bei, M., Stimson, J. Hypohydroticectodermal dysplasia: a M., Wang, W.-F., DePalma, S. R., unique approach to esthetic and Seidman, C. E., Felbor, U., Maas, R., prosthetic management: a case Seidman, J. G., Olsen, B. R. A report. J Indian SocPedodPrev Dent. nonsense mutation in MSX1 causes 2015;31–34. Witkop syndrome. Am. J. Hum. 6. Mikulás K, Kivovics P, Nagy G, Genet. 69: 67-74, 2001 Márton K, Madléna M. Complex oral 3. Davidson D. The function and rehabilitation of a patient with evolution of Msx genes: pointers and Witkop's syndrome: an paradoxes. Trends in genetics: TIG. interdisciplinary approach. Oral 1995;11(10):405-11. health Dent Manage Black Sea 4. MacKenzie A, Ferguson MW, Sharpe Ctries. 2008;7:56–60. PT. Hox-7 expression during murine

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Zende U. et al., Int J Dent Health Sci 2016; 3(6): 1193-1198 7. Subramanium P, Neeraja R. Witkop's 1975; 39(3):409-23. PubMed PMID: tooth and nail syndrome: a 1054139. multifaceted approach to dental 13. Giansanti JS, Long SM, Rankin JL. The management. J Indian SocPedod “tooth and nail” type of autosomal Prevent Dent. 2008;26:22–25. dominant ectodermal dysplasia. Oral 8. Edward J, ZabawaskiJr, Cohen JB. surgery, oral medicine, and oral Hereditary hypodontia and pathology. 1974; 37(4):576-82. doi: onychorrhexis of the fingernails and 10.1016/0030-4220(74)90289- toenail : Witkop tooth 8.PubMed PMID: 4521949. and nail syndrome. Dermatol Online 14. Świder K., Szozda A., Tokarski T.: J. 1999; 5:3–6. Prosthodontic treatment of children 9. Zabawski EJ, Jr., Cohen JB. – case reports. Dent. Med. Probl., Hereditary hypodontia and 2013; 50: 106-113 onychorrhexis of the fingernails and 15. Chitty LS, Dennis N, Baraitser M. toenail koilonychia: Witkop’s tooth- Hidrotic ectodermal dysplasia of and nail syndrome. Dermatology hair, teeth, and nails: case reports online journal. 1999;5(1):3. and review. Journal of medical 10. Hodges SA, Harley KE. Witkop tooth genetics. 1996;33(8):707-10. doi: and nail syndrome: Report of two 10.1136/ jmg.33.8.707. PubMed cases in a family. Int J Pediatr Dent PMID: 8863167. 1999;9:207-12. 16. Devadas S, Varma B, 11. Witkop CJ. Hypodontia-nail MungaraJ,Joseph T, Saraswathi TR. dysgenesis. In: Buyse ML (ed) Birth Witkop tooth and nail syndrome: a defects encyclopedia: the case report. Int J Paediatr Dent comprehensive, systematic, 2005; 15(5):364-69. illustrated reference source for the 17. Vinod Kumar Khurana MD, Rakesh diagnosis, delineation, etiology, Kumar Gupta MD, Lekshmi P Kumar biodynamics, occurrence, MD. Witkop syndrome: A case prevention, and treatment of human report of an affected family. anomalies of clinical relevance. Dermatol Online J 2008;18 (6): 2. 15: Center for Birth Defects Information 364-369 Services. Dover: Center for Birth 18. Ghazafaruddin M, Mishra G, Defects Information Services; 1990. Haseebuddin S, Mishra A. p. 1892. Oligodontia of Permanent Teeth: A 12. Hudson CD, Witkop CJ. Autosomal rare case report. Indian J Stomatol. dominant hypodontia with nail 2011; 2: 285-287. dysgenesis. Report of twenty-nine 19. Suda N, Ogawa T, Kojima T, Saito C, cases in six families. Oral surgery, Moriyama K. Non- oral medicine, and oral pathology. syndromicoligodontia with a Novel

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Zende U. et al., Int J Dent Health Sci 2016; 3(6): 1193-1198 Mutation of PAX9. J Dent Res. 2011; Int J Prosthodont. 2007; 20: 409- 90: 382-386. 413. 20. Creton MA, Cune MS, Verhoeven W. Patterns of missing teeth in a population of oligodontia patients.

FIGURES:

Figure 1 - Front & lateral view of patient shows normal scalp hair.

A

Figure 2 – A) Normal finger nails

B) Dysplastic toe nails.

Figure 3 – preoperative intraoral photograph.

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Zende U. et al., Int J Dent Health Sci 2016; 3(6): 1193-1198

Figure 4 – OPG showing congenital absence of tooth buds except 26.

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B

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Figure 5 – A) Frenectomy B) Crown lengthening C) Post preparation.

Figure 6 – Photograph of intraoral view showing FPD in occlusion.

Figure 7 – Preoperative & postoperative photographs of the patient.

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