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South African Dental Journal

On-line version ISSN 0375-1562
Print version ISSN 0011-8516

S. Afr. dent. j. vol.75 n.10 Johannesburg Nov. 2020


18. Bigby J, Reader A, Nusstein J, Beck M. Anesthetic efficacy of lidocaine/meperidine for inferior alveolar nerve blocks in patients with irreversible pulpitis. Journal of Endodontics. 2007; 33: 7-10.         [ Links ]



Pumela Gwengu
Department of Operative Dentistry
Sefako Makgatho Health Science University
Garankuwa, Pretoria, South Africa



Author contributions:
1 . Pumela Gwengu: Principal researcher - 70%, writing of the article - 60% and conceptual stage contribution - 10%
2 . Casper Jonker: Researcher - 30%, writing of the article - 20%, and conceptual stage contribution - 10%

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Focal dermal hypoplasia - a radiographic case report



Z YakoobI; C NelII

IBChD (UWC), PG Dip Dent (Maxillofacial Radiology) (UWC), MSc (Maxillofacial Radiology) (UWC), Faculty of Health Sciences, Department of Oral Pathology and Oral Biology, University of Pretoria. ORCID Number: 0000-0003-1966-5574
IIBChD (UP), MSc Maxillofacial Radiology (UP), Faculty of Health Sciences. Department of Oral Pathology and Oral Biology, University of Pretoria. ORCID Number: 0000-0003-4047-6356





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 ofa12 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.

Keywords: Focal dermal hypoplasia, Goltz-Gorlin syndrome, Ecto-dermal Dysplasia.




Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome was first reported in 1962 by Goltz, Peterson, Gorlin and Ravitz.1 FDH is an unusual X-lin-ked dominant disorder that affects ectoderm and meso-derm derived tissues.2

The PORCN (porcupine O-acyltransferase) gene mutation can be inherited or occur sporadically, with females affected in 90% of cases.3,4 FDH is characterized by a wide range of multisystem abnormalities and all patients present with dermatological conditions. The eyes, teeth, skeletal, urinary, gastrointestinal, cardiovascular and central nervous systems may all present with manifestations (Figure 1).3,5



Over 280 cases have been reported in the literature, with a small number of these reporting oral and dental features.3 The reported dental abnormalities associated with this condition include; hypodontia, enamel hypo-plasia and structural alterations such as taurodontism and abnormal root morphology.

Disturbances in eruption and ectopic teeth are also a common finding.3 One study reports the presence of enamel defects in the form of vertical grooves that run along the Blaschko lines, as a strong indicative factor for FDH.6



A 12 year old female diagnosed with FDH reported to our institution seeking dental care. The diagnosis was made by a geneticist at infancy. She has been managed for numerous multisystem conditions since birth and was referred to our institution for further dental and orthodontic management.

The patient has a history of surgical treatment for the correction of syndactyly of the hands (Figure 2). The patient's toes have not been surgically corrected (Figure 3). The patient has been reportedly struggling with chronic conjunctivitis, middle ear infections and dermatitis.

The extra-oral examination revealed sparse hair, dystrophic nails and red patchy skin. The intra-oral examination revealed microstomia, generalized inflammatory gingival enlargement and numerous missing and mal-aligned teeth (Figure 4).



The visualization of vertical grooving of the anterior teeth was not feasible due to the altered eruption and alignment. The patient was subsequently referred for radiographic assessment. The panoramic radiograph (Figure 5) revealed an elongated left condylar neck and interrupted calcification of the right stylohyoid ligament. Generalized enamel hypoplasia and hypo-dontia was the most striking radiographic finding.



Radicular hypoplasia was also visible on 43 and 22. Overlap and crowding of maxillary anterior teeth and a disto-angular impaction in the right mandibular corpus was noted. The bone in the 4th quadrant had an irregular presentation and the decision was then made to take a CBCT scan of the area (Figure 6).

The CBCT scan revealed thin crestal bone in the area of the 4th quadrant with intact cortication. This explains the irregular appearance of the bone seen on the panoramic radiograph as the thin bony crest was outside of the panoramic focal trough. The excess mobile soft tissue in the 4th quadrant was excised under general anaesthesia and submitted for histology.

The histological features were that of inflammatory fibrous hyperplasia. The 55, 54 and 43 were also extracted during this procedure. A carious 46 was also detected on the radiograph and was subsequently restored. The patient was assessed by maxillofacial surgeons, orthodontists and a geneticist during her visit at our institution and was further managed by the pedodontics department for restorative and preventive care. Initial verbal consent and later written informed consent was obtained from the mother of the child to continue with the study. Ethical approval was obtained from the University of Pretoria Ethics committee (Reference number: 143/2019).


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