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INTRODUCTION: An analysis was made of three different syndromes associated with p63 gene mutations, known as ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), ankyloblepharon-ectodermal dysplasia clefting syndrome (AEC or Hay-Wells) and Rapp-Hodgkin syndrome (RHS). The postoperative complications associated with their cleft reconstructions were also evaluated. MATERIALS AND METHODS: Extensive demographic information, in particular of the clinical appearances, associated malformations, and the types and complications of the reconstructive surgical procedures, were recorded of these syndromic cases occurring in a database of 3621 facial cleft deformity patients. The data was analyzed using the Microsoft Excel program. RESULTS: A total of 10 (0.28%) cases of p63 associated syndromes were recorded: EEC (6), RHS (3), and AEC (1). The following clinical cleft appearances were noted - EEC = 6: CLA 1 -right side unilateral (female); CLAP 4 - right side (1) + left side (1) unilateral (male + female); bilateral (2) (males); hPsP 1 (female) (divided in 3 Black, 2 White, 1 Indian); RHS = 3: CLAP 2 (White males); hPsP 1 (White female); AEC = 1: CLAP bilateral (White male). Other features of the syndromes were: skin, hand, foot, tooth, hair and nail involvement, and light sensitivity. Postoperative complications included: (i) stenosis of nasal opening, especially after reconstruction of the bilateral cleft lip and the columella lengthening (2 cases), (ii) premaxilla-prolabium fusion (2 cases), (iii) repeated occurrence of oro-nasal fistula in the hard palate (4 cases), and (iv) dysgnathial development of midfacial structures (3 cases). DISCUSSION: Three different p63 associated syndromes (EEC, AEC, and RHS) were diagnosed (0.27% of the total facial cleft deformities database). The majority of the cases presented with a bilateral CLAP in males only. A number of females and males had unilateral CLA. The hPsP-cleft was recorded in females only. The associated ectodermal component most probably had a profoundly negative influence on postoperatively wound healing, which was observed in particular at the nasal openings, the premaxilla sulcus and in the hard palate mucosa. The reconstruction of p63 associated syndromes is a greater challenge than the usual cleft reconstruction to the surgeon.
RESUMO
OBJECTIVE: This article describes a case series of oral and oropharyngeal impalement injuries in pediatric patients and highlights the peculiar etiological role of the rural environment. STUDY DESIGN: The records of nine pediatric patients who presented with oropharyngeal impalement injuries were reviewed. The patients were all from various rural areas of South Africa. The article focuses on the challenges and risk of post-impalement injury infection in the context of a rural environment. RESULTS: There were eight boys and one girl. The ages of the study participants ranged from 2 to 10 years. Object-to-head injury was the predominant etiopathogenic mechanism (six cases) compared with head-to-object injury (three cases). Six out of nine lesions were shallow. The hard palate was the single most commonly affected site. Two cases (2/9) of post-impalement injury infection were recorded. CONCLUSION: Although the risk of infection post-oropharyngeal impalement injury is reported to be low, it remains, however, a legitimate concern in cases occurring in the rural environment. The specific challenges in terms of health infrastructures in the rural environment, especially in developing countries, may have an impact on the ways oropharyngeal impalement injuries are managed.
