Dental Treatment Approach to the Child With Chanarın-Dorfman Syndrome: A Case Report

Abstract

Chanarin-Dorfman Syndrome CDS is a rare autosomal recessive inherited neutral lipid metabolism disorder characterized with ichthyosis lesions and multi-system involvement. There are limited number of sources notification of this syndrome. The aim of this case report was to report difficulties in dental treatment process of an 8year-old patient diagnosed with CDS who was referred to Ankara University Faculty of Dentistry Department of Pediatric Dentistry due to dental pain. In the extra oral examination, erythema and desquamation of the skin on entire body surface, scalp scaling was detected and the patient had difficulty in opening her mouth because of anguler fissures. In the intraoral examination multiple carious teeth 16, 26, 36, 46, 54, 55, 64, 65, 75, 84 and 85 were determined, also molar incisor hypomineralization MIH was diagnosed. Conservative, surgical, prophylactic treatment and removable space maintainers were applied. There was no literature detected about the dental approach for this syndrome. It can be concluded that there is a major necessity of the children with CDS have to be redirected to the pediatric dentists in early stages of the childhood and the preventive programmes should be applied

Keywords

• Chanarin-Dorfman syndrome, ichthyosis, autosomal recessive, dental treatment

CHANARIN-DORFMAN SENDROMLU ÇOCUK HASTAYA DENTAL TEDAVİ YAKLAŞIMI: OLGU SUNUMU

Abstract

Chanarin-Dorfman Sendromu CDS , nadir görülen, otozomal ressesif genetik geçişli, iktiyozis ve multi sistem tutulumu ile karakterize bir lipid metabolizması hastalığıdır. Bu sendroma ait sınırlı sayıda kaynak bildirimi bulunmaktadır. Bu olgu sunumunda, diş ağrısı nedeniyle Ankara Üniversitesi Diş Hekimliği Fakültesi Pedodonti Anabilim Dalı’na başvuran 8 yaşındaki CDS’li hastanın diş tedavisi sırasında sendroma bağlı karşılaşılan problemlerin sunulması amaçlanmıştır. Hastanın ağız dışı muayenesinde, kafa derisi ve tüm vücutta eritem, deskuamasyon ve pullanma ile birlikte hastanın dudak kenarlarındaki çatlaklar nedeniyle ağzını açmakta zorlandığı gözlenmiştir. Hastanın ağız içi muayenesinde ise çok sayıda çürük varlığı 16, 26, 36, 46, 54, 55, 64, 65, 75, 84 ve 85 no’lu dişler tespit edilirken hastaya büyük azı keser hipomineralizasyonu BAKH teşhisi konulmuştur. Hastaya gerekli konservatif, cerrahi ve profilaktik tedaviler uygulanmış olup hareketli yer tutucu yapılmıştır. Literatürde söz konusu sendromla ilgili dental yaklaşıma ait hiçbir kaynağa rastlanmamış olup, CDS’li çocuk hastaların erken dönemde bir çocuk diş hekimine yönlendirilmesi ve koruyucu uygulamaların yapılması gerekliliği bir kez daha gözler önüne serilmektedir

Keywords

• Chanarin-Dorfman sendromu, iktiyozis, otozomal ressesif, diş tedavisi

References

1. Aksu G, Kalkan US, Bulut Y, Aydinok Y, Sen S, Anal O, Simsek Gosen D, Darcan S, Coker M, Kutukculer N. Renal In- volvement as a Rare Complication of Dorfman-Chanarin Syndrome: A Case Re- port. Pediatr. Dermatol 25: 326-31, 2008.
2. Ersoy Ö, Alkım C, Onuk MD, Demirsoy H, Argon D. A rare cause of fatty liver and elevated aminotransferase levels: Chanar- in-Dorfman Syndrome: A case report. Int. J. Hepatol 341372: 1-4, 2011.
3. Igal RA, Rhoads JM, Coleman RA. Neu- tral lipid storage disease with fatty liver and cholestasis. J. Pediatr. Gastroenterol. Nutr 25: 541-7, 1997.
4. Lefevre C, Jobard F, Caux F, et al: Muta- tions in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin- Dorfman syndor- me. Am. J. Hum. Genet 69(5): 1002-1012, 2001.
5. Pena-Penabad C, Almagro M, Martinez W, Garcia-Silva J, Del Pozo J,Yebra MT, Sanchez-Manzona C, Fonseca E. Dorf- man-Chanarin syndrome (neutral lipid storage disease): new clinical features. Br. J. Dermatol 144: 430-432, 2001.
6. Pujol RM, Gilaberte M, Toll A, Florensa L, Lloreta J, González- Enseñat MA, Fischer J, Azon A. Erythrokeratoderma variabilis- like ichthyosis in Chanarin- Dorfman syndrome. Br. J. Dermatol 153: 838-41, 2005.
7. Selimoglu MA, Esrefoglu M, Gul M, Gungor S, Yildirim C, Seyhan M. Chanar- in-Dorfman syndrome: clinical features of a rare lipid metabolism disorder. Pediatr. Dermatol 26: 40-3, 2009.
8. Srinivasan R, Hadzic N, Fischer J, Knisely AS. Steatohepatitis and unsuspected mi- cronodular cirrhosis in dorfman-chanarin syndrome with documented ABHD5 muta- tion. J. Pediatr 144: 662-5, 2004.

9. Şahin MK, Akal N, Oznurhan, F. Lamellar ichthyosis: iki olgu sunumu. GÜ. Diş. Hek. Fak. Derg 26(3): 177-80, 2009.
10. Taskin E, Akarsu S, Aygun AD, Ozlu F, Kilic M. Rickets with Dorfman-Chanarin Syndrome. Acta. Haematol 117: 16-9, 2007.
11. Vahlquist A, Gånemo A, Virtanen A. Congenital Ichthyosis: An Overview of Current and Emerging Therapies. Acta. Derm. Venereol 88: 4–14, 2008.