Bénédicte Bayet

Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population.

Cleft lip with or without cleft palate is the most frequent craniofacial malformation in humans (∼1/700). Its etiology is multifactorial; some are a result of a genetic mutation, while others may be due to environmental factors, with genetic predisposition playing an important role. The prevalence varies widely between populations and the mode of inheritance remains controversial. The interferon regulatory factor-6 (IRF6) gene has been shown to harbor mutations in patients with van der Woude syndrome, a dominant form of clefts associated with small pits of the lower lip. Moreover IRF6 has been associated with nonsyndromic cleft of the palate (CL/P) in two separate studies. We investigated the role of IRF6 in a set of 195 trios from Belgium. Cleft occurred as an isolated feature. We studied association of the IRF6 locus using two variants: one in the IRF6 gene and the other 100 kpb 3′ of the gene. Our independent study group confirms that the IRF6 locus is associated with nonsyndromic cleft lip with or without palate. This result, with previous studies performed in the United States and Italy, shows for the first time the implication of IRF6 in isolated CL/P in northern Europe. It is likely that association to this locus can be identified in various populations and that the IRF6 locus thus represents an important genetic modifier for this multifactorial malformation.

Pseudo-tumoral proliferative nodule in a giant congenital naevus.

OBJECTIVE To discuss the characteristics of proliferative nodules in giant congenital naevi. METHODS We report the case of a newborn referred for staged curettage of a giant congenital naevus. A nodule was discovered on his left flank. It was excised for analysis during the first treatment session during the second week of life. RESULTS The nodule was soft and looked like a lipoma. On optical microscopy however, there was a high cellular density and a high number of mitoses. Although the genetic analysis for melanoma antigens was reassuring, a firm nodule recurred a few days later. A second excision was performed at the fourth week. Surprisingly, on optical microscopy, the cellular density was much lower and there were no more atypias or mitoses; many neurotization foci were present. The natural history changed to spontaneous regression of the cellular activity. The diagnosis of proliferative nodule was made. CONCLUSION Proliferative nodules in giant congenital naevi have specific clinical and histological characteristics. These should however be put into perspective. As demonstrated in this case, there can be an initial high mitotic activity within the nodule but this should not lead to the misdiagnosis of malignant melanoma. The spontaneous regression of cellular activity will allow the correct diagnosis to be made.

Neonatal cleft lip repair: the anesthesiologist's point of view.

Neonatal cleft lip repair is no longer an unusual procedure and several series have been published to date. We present our 3-year experience from the anesthesiologists point of view. Preoperative evaluation, perioperative management, and postoperative problems are described. A thorough preoperative evaluation in order to exclude associated malformations (especially cardiac) and experience in neonatal anesthesia are essential for the sake of safety.

Congenital epulis of the newborn.

Abstract Congenital epulis is a rare benign tumour arising from the gum of neonates. We report the antenatal diagnosis and neonatal surgical treatment of a large congenital epulis of the mandible associat-

Primary and secondary breast reconstruction with a permanent expander

SummaryThe second generation of tissue expanding prostheses is the permanent expander. It has been used in a series of 88 breast reconstructions following mastectomy for malignant and premalignant disease in 49 secondary and 39 primary reconstructions, the longest follow-up being 45 months and the shortest 12 months. Pre- and postoperative radiotherapy (45 gy) has been the major source of complications: implant loss (11%), infection (2%); capsular contracture-Bakers grade III–IV (90%); and, improper positioning should also be mentioned. Primary reconstruction is no longer performed if postoperative radiotherapy is scheduled. The results were totally different if radiotherapy was omitted after primary reconstruction. The expansion was smooth, an attractive breast shape with mild ptosis was easily achieved, and only minor complications were encountered. A permanent tissue expander, either alone or covered with a latissimus dorsi flap, remains our first choice in breast reconstruction.

Giant congenital melanocytic nevi: long-term results of treatment modalities

We present our long-term results of 44 children treated for giant congenital melanocytic nevus (GCMN). Although controversial, their potential malignancy enforces their removal. The choice of the technique is a real challenge but should attempt to remove all of the involved tissue with minor cosmetic deformity. Our present approach favours the use of multimodality therapy, and different surgical procedures being used for each region.

Hydrosurgery, a new therapeutic perspective in early care of giant congenital nevi: A preliminary series of four cases

BACKGROUND Congenital melanocytic nevi are present at birth or may appear in the first weeks of life. Small and medium-size lesions are relatively common, affecting approximately 1% of newborns; large or giant melanocytic nevi occur in 1/20,000-1/500,000 births. The main concern raised by these lesions is their potential risk of degeneration which is strongly size-dependent and estimated in the literature between 0% and 40% over a lifetime. Although multiple treatment modalities have been described, to date there is no consensus regarding their optimal management. PATIENTS AND METHODS Four neonates (three females and one male) presenting giant congenital nevi with a mean age 12 days (7-24 days) were referred to our Plastic Surgery department for treatment from 2012 to 2013. All patients underwent an alternative dermabrasion procedure with the innovative use of hydrosurgery. All procedures were performed under general anaesthesia by the same senior operator (Dr. B.Bayet). RESULTS The mean operating time was significantly reduced compared to conventional techniques. No complications were observed in the postoperative course. Good final results were obtained in three patients after a mean follow-up of respectively 11, 8 and 4 months. The first operated neonate showed a complete recurrence of pigmentation of the treated areas after 6 months. CONCLUSIONS The need for early treatment in giant congenital nevi is admitted by all. Hydrosurgery is easy to use and allows to achieve a selective and symmetric resection with an obvious cleavage plane and clean-cut borders. Furthermore, this procedure has convinced us with its speed of use, ensuring significant time saving, and therefore less morbidity for the neonate. Aesthetic results as well as recurrence rate may be comparable to conventional techniques. However, regular follow-up to detect any malignancy is necessary.

Pregnancy and neonatal outcome following an antenatal diagnosis of cleft lip and palate

Abstract Aim: To identify the significance of associated antenatal ultrasound findings on long-term prognosis following the antenatal diagnosis of cleft lip/palate [CL(P)]. Patients and methods: Retrospective case note analysis of patients seen at a single tertiary referral centre with a diagnosis of CL(P). The patients were classified as those with unilateral or bilateral clefts and then further subdivided according to the presence of associated anomalies, and these were related to pregnancy and neonatal outcome. Results: A total of 125 singleton pregnancies were seen at the antenatal diagnostic unit, 14 of which were subsequently lost to follow-up. Eighty-two (65.6%) had a diagnosis of unilateral CL(P) and 43 (34.4%) a bilateral CL(P). Seventy-five foetuses (67.5%) had no other anomalies detected on antenatal ultrasound. Seventeen patients (15%) underwent a termination of pregnancy. A normal postnatal outcome was seen in 79% of liveborn infants overall. Only 50% of foetuses diagnosed with a single minor anomaly and 4% of the foetuses in whom more than two minor anomalies or one major anomaly had been detected on ultrasound had a normal postnatal outcome. Infants with bilateral CL(P) had a significantly reduced incidence of a normal postnatal course (60% vs. 87.5%, P<0.01). Conclusion: In cases of CL(P), there is a high incidence of associated anomalies detected on antenatal ultrasound and these significantly increase the risk of poor neonatal outcome.

Immunologic tolerance to skin allograft after graft-versus-host disease.

We report the observation of a young girl suffering from acute myeloid luekemia who developed chronic graft-versus-host disease with major skin involvement after a bone marrow graft from her histocompatible brother. She developed an immunologic tolerance to her brothers skin, which was used to correct the severe joint contractures, sequelae of the graft-versus-host disease.