Three syndromes, linked to the p63 gene: peri-operative complications

Objective: The objective was to evaluate three different syndromes associated with p63 gene mutations, known as Ectrodactyly-Ectodermal-Dysplasia-Clefting syndrome (EEC), Ankyloblaphron Ectodermal Dysplasia Clefting syndrome (AEC or Hay-Wells) and Rapp-Hodgkin (RHS) syndrome, concerning the post-operative complications associated. Methods: Demographic information and in particular the following data is extensively recorded: clinical appearance, associated malformations and the type and complications of the reconstructive surgical procedure. This data was analysed using the Microsoft Excel program. 3352 Cleft Lip and Palate patients were evaluated for these three specific syndromes usually associated with the p63 gene mutation. Results: The analysis presents with 10 (0.30%) cases of p63 associated syndromes: EEC (6), RHS (3) and AEC (1). These three syndromes were recorded with following clinical appearance and associated demographic information - EEC: unilateral right-sided CLA = 1 (female); CLAP = 4 (males) 3 - 2-bilateral CLAP and 1-unilateral right-sided CLAP; female 1 - unilateral left-sided CLAP); hPsP = 1 (female) (3 Black, 2 White, 1 Indian); RHS: bilateral CLAP = 2 (White males); hPsP = 1 (White female); AEC: bilateral CLAP = 1 (White male). Post-operative complications included: stenosis of nasal opening after closure of bilateral cleft lip and columella lengthening (2), premaxilla-prolabium fusion (2), repeated occurrence of oro-nasal fistula (4) and retrognathic development of midfacial structures (3). Conclusions: The three p63 associated syndromes (EEC, AEC, and RHS) were reported in 0.30% of cleft deformities. The majority presented with a bilateral CLAP, and only in males, where females and males had a unilateral CLA and only females an hPsP cleft deformities. The associated ectodermal component of these syndromes most probably had a negative influence on post-operatively wound healing, concerning the nasal, sulcus and palate mucosa. As such, the reconstruction of these three p63 associated syndromes is a challenge to the surgeon.