Focal dermal hypoplasia - a radiographic case report

Authors

DOI:

https://doi.org/10.17159/2519-0105/2020/v75no4a6

Keywords:

focal dermal hypoplasia, Goltz-Gorlin syndrome, Ecto-dermal Dysplasia

Abstract

Focal dermal hypoplasia (FDH) is an unusual X-linked dominant disorder that affects ectoderm and mesoderm derived tissues with females affected in 90% of cases. A case report of a 12 year old female diagnosed with FDH is presented. The dental significance of these patients are multifactorial and dental management should be focused on prevention and regular monitory visits. Restoration of functionality should be addressed by a combination of orthodontic, basic restorative and pros-thodontic disciplines. Due to the multisystem involvement and the dental complexities of patients suffering from FDH a multidisciplinary approach is required for optimal patient care.

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References

Nathwani S, Martin K, Bunyan R. Focal dermal hypoplasia: A novel finding in disguise. J Oral Biol Craniofacial Res. 2018; 8(2): 143-6.

Yesodharan D, Buschenfelde UMZ, Kutsche K, Nair KM, Nampoothiri S. Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum. Indian J Pediatr. 2018; 85(12): 1067-72.

Wang L, Jin X, Zhao X, Liu D, Hu T, Li W, et al. Focal dermal hypoplasia: Updates. Oral Dis. 2014; 20(1): 17-24.

Grzeschik KH, Bornholdt D, Oeffner F, Konig A, del Carmen Boente M, Enders H, et al. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet. 2007; 39(7): 833-5.

Ghosh SK, Dutta A, Sarkar S, Nag SS, Biwas SK, Mandal P. Focal dermal hypoplasia (Goltz Syndrome): A cross-sectional study from Eastern India. Indian J Dermatol. 2017; 62(5): 498-504.

Gysin S, Itin P. Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia. Case Rep Dermatol. 2015; 7(2): 90-4.

Basha S, Noor Mohamed R, Swamy HS. Association between enamel hypoplasia and dental caries in primary second molars and permanent first molars: A 3-year follow-up study. Ann Trop Med Public Heal. 2016; 9(1): 4-11.

Prof Bertram Cohen CBE, a South African dentist who achieved worldwide recognition for his outstanding contributions to oral pathology, Professor Bertram Cohen was the first Nuffield Research Professor at the Royal Colleges of Surgery, England. He served in the Second World War in the South African Medical Corps. A fine start to a life of service.

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Published

2020-05-31

How to Cite

Yakoob, Z., & Nel, C. (2020). Focal dermal hypoplasia - a radiographic case report. South African Dental Journal, 75(4), 208–210. https://doi.org/10.17159/2519-0105/2020/v75no4a6

Issue

Vol. 75 No. 4 (2020): South African Dental Journal

Section

Case Reports

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Copyright (c) 2020 Zarah Yakoob, Chané Nel

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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.