Etiology and Treatment of Congenital Festoons.

BACKGROUND: Festoons and malar bags present a particular challenge to the plastic surgeon and commonly persist after the traditional lower blepharoplasty. They are more common than we think and a trained eye will be able to recognize them. Lower blepharoplasty in these patients requires addressing the lid-cheek junction and midcheek using additional techniques such as orbicularis retaining ligament (ORL) and zygomaticocutaneous ligament (ZCL) release, midface lift, microsuction, or even direct excision (Kpodzo e al. in Aesthet Surg J 34(2):235-248, 2014; Goldberg et al. in Plast Reconstr Surg 115(5):1395-1402, 2005; Mendelson et al. in Plast Reconstr Surg 110(3):885-896, 2002). The goal in these patients is to restore a smooth contour from the lower eyelid to the cheek. The review of literature shows the need for more than one surgery for treatment of the festoons (Furnas in Plast Reconstr Surg 61(4):540-546, 1978). One of the reasons WHY these cases are so challenging is that the festoons tend to persist even after surgical treatment. As Furnas said, "Malar mounds have acquired some notoriety for their persistence in the face of surgical efforts to remove them" (Furnas in Clin Plast Surg 20(2):367-385, 1993). This could be due to different etiology between acquired and congenital festoons. There are currently no cases of congenital festoons described in the literature. In the last 10 years, we have treated a total of 59 patients with festoons or malar mounds. We used the terminology of festoon for acquired cases and malar mound for congenital ones (Kpodzo et al. 2014). We were successful with treating 56 patients who developed acquired festoons later on in life; however, three cases required an additional treatment to improve residual puffiness that they had after the first operation. From the above findings, we hypothesized that there should be something common in patients with congenital festoons or malar mounds which are different from acquired festoons. All of these three patients had one thing in common, and that was a history of puffiness of the prezygomatic space since childhood. Each of these patients expressed that these conditions have been present since a young age but became worse with aging over time. To date, there are no descriptions of the cause or treatment for congenital festoons. Here, we present the first case series of three patients with congenital festoons. We discuss the possible etiology of congenital festoons, the physical exam, and the surgical approaches. METHODS: We performed a retrospective review of 59 patients who had surgical correction of festoons in the past 10 years, three of which were presented since childhood. In this paper, we will discuss the pathophysiology and the surgical treatments for congenital festoons. Only patients with festoons present since birth were included. The first two cases were treated with a subciliary blepharoplasty with release of the orbicularis retaining and zygomaticocutaneous ligaments and midface lift with canthopexy and orbicularis muscle suspension. The third case had a subciliary lower blepharoplasty approach, skin, and muscle flap and direct excision of the fat through the orbicularis from the subcutaneous space. In addition, each patient required further treatments to address supra-orbicularis fat by various methods. RESULTS: All patients with acquired festoons had successful results with one operation by subciliary skin muscle flap, release of the ORL and ZCL, midface lift, and muscle suspension. All three patients with congenital festoons had residual puffiness that required surgical and non-surgical treatments. There were no complications. Our first case required three surgical treatments for complete correction. The second and third cases required Kybella injections after their initial surgical treatments. The specimen of the first patient, Fig. 10, who had direct excision, showed localized fat collection immediately under the skin and above the orbicularis oculi muscle. CONCLUSIONS: Correction of congenital festoons or malar mounds requires a combination of subciliary lower blepharoplasty with skin muscle flap, midface lift, and orbicularis muscle suspension, as well as addressing the supra-orbicularis fat via direct excision, off-label Kybella injection or liposuction. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

[Labial recurrent swelling revealing median congenital upper-lip fistula]. / Tuméfaction labiale récidivante révélatrice d'une fistule congénitale médiane de la lèvre supérieure.

Midline upper-lip fistulas are an extremely rare variant of congenital facial malformations. Less than 30 cases have been reported in the literature since 1970. We report the case of a 2 and a half-year-old girl presenting with a median congenital blind fistula of the upper lip, without any relation with the oral cavity. A recurrent swelling of the upper lip was the main symptom. Complete surgical excision of the cyst or of the fistulous tract must be obtained to avoid recurrence.

[Congenital nephrotic syndrome of the Finnish type--key to the mechanisms of proteinuria]. / Suomalaistyyppinen synnynnäinen nefroosi--avain proteinurian mekanismeihin.

Congenital nephrotic syndrome of the Finnish type is a serious renal disease belonging to the Finnish disease heritage. It appears as substantial proteinuria, hypoproteinemia and edema in a newborn. Kidney transplantation is the only effective treatment. The cause of the disease is a mutation in the gene encoding the nephrin protein. Nephrin is produced by the epithelial cell (podocyte) of the glomerulus. It is expressed in the slit membrane connecting the pedicles of the podocyte. This finding has revolutionized the concept of glomerular filtration and set off active research on the pathogenetic mechanisms of proteinuria.

Duplicated thumb with enormous soft-tissue oedema - pacifier type of thumb duplication.

Here we presented the first case of pacifier type thumb duplication. A newborn Japanese girl with no family history had a duplicated thumb on her left hand. The duplicated thumb showed a very large, oedematous soft-tissue nubbin in its appearance and was resected on the fifth day after birth. X-ray showed hypoplastic phalanx bone, suggesting type II polydactyly. Histology of the resected thumb showed enormous oedema in its connective tissue with cartilaginous and neural elements. This case was quite similar to literary reported cases of pacifier polydactyly in post-axial polydactyly, and its pathological condition seemed to be distinctly different from floating type or rudimentary type thumb duplication. We considered this type of thumb duplication as pacifier type thumb duplication, rather than floating or rudimentary type, in order to understand its underlying pathophysiology and to avoid confusion in further discussions.

An evaluation of off-label fenoldopam use in the neonatal intensive care unit.

We analyzed the effect of off-label fenoldopam (FDM) therapy on electrolyte balance, renal function, blood pressure, and urinary output in neonatal patients. We performed a retrospective review of 22 neonates treated with FDM in two neonatal intensive care units. Primary outcome compared physiological status 24 hours before FDM therapy to the first 24 hours of FDM therapy. Electrolytes, blood urea nitrogen (BUN), creatinine, fluid intake, respiratory support, blood pressure, and heart rate were also compared. FDM was used to treat oliguria and anasarca. Seven infants were supported with extracorporeal membrane oxygenation. Gestation ranged 24 to 39 weeks (median 37) and postnatal age, 1 to 89 days (median 10). FDM dose increased over time (median initial dose 0.10 microg/kg/min versus 0.20 at 48 hours). FDM therapy had no effect on serum creatinine, electrolytes, or cardiopulmonary function but was associated with a significant increase in BUN ( P = 0.008). Urine output did not increase significantly for the group as a whole (paired T test) but did significantly increase during the initial 24-hour infusion among oliguric infants. Low-dose FDM did not improve urine output in critically ill neonates as a whole. There were no apparent adverse cardiopulmonary or metabolic effects from FDM use in this limited population. Future FDM use in the context of a randomized prospective trial appears warranted in the early management of infants with oliguria.

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.

Three patients born to the same set of consanguineous parents presented with antenatal skin oedema, hypotonia, cardiomyopathy and tubulopathy. The enzymatic activities of multiple mitochondrial respiratory chain complexes were reduced in muscle. Marked reduction of 12s rRNA, the core of the mitochondrial small ribosomal subunit, was found in fibroblasts. Homozygosity mapping led to the identification of a mutation in the MRPS22 gene, which encodes a mitochondrial ribosomal protein. Transfection of the patient cells with wild-type MRPS22 cDNA increased the 12s rRNA content and normalised the enzymatic activities. Quantification of mitochondrial transcripts is advisable in patients with multiple defects of the mitochondrial respiratory chain.

Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia.

Pulmonary lymphangiectasia is an uncommon congenital anomaly, and familial occurrence has rarely been reported. We report on two sibs with bilateral pleural effusion/chylothorax and hydrops who died neonatally. One sib required prenatal intrauterine hemithoracic drainage. Autopsy confirmed congenital pulmonary lymphangiectasia (CPL) histologically in the first case. Hydrops, characterized as subcutaneous edema and effusions in two or more body cavities, may be due to a variety of factors, but the co-occurrence of CPL in one of these sibs, although rare, supports the notion that chylothorax and hydrops may be caused by structural lesions of lymph channels. Although most cases of CPL are sporadic, the reported sibs support autosomal recessive inheritance, with intrafamilial variability of a lymphatic disorder on a genetic basis. Mutations in vascular endothelial growth factor receptor-3 (VEGFR3) in families with Milroy disease, mutations of FOXC2 in the lymphedema-distichiasis syndrome, and fatal chylothorax in alpha9-deficient mice are potential candidate genes.

[Ovarian hyperstimulation syndrome in preterm infants]. / Ovarielles Hyperstimulationssyndrom bei frühgeborenen Mädchen.

Ovarian cysts are a relatively frequent finding in fetuses and neonates. In preterm infants, a simultaneous occurrence of estradiol-producing ovarian cysts and edematous swelling of the vulva, the thighs and the lower abdominal wall was described by Sedin and co-workers in 1985 for the first time. This ovarian hyperstimulation syndrome occurred at a postconceptional age that slightly preceded the expected time of delivery. We report on four extremely low birth weight infants who were observed in the neonatal ward with ovarian cysts and stimulation of the external and internal genitalia, beginning at a postconceptional age of 35 to 39 weeks. The serum concentration of estradiol was within or above the range of the preovulatory peak of adults in all patients. Other causes of edema in preterm infants were excluded. The findings receded during 5 - 9 weeks. It is supposed, that in some cases the physiologically high concentration of gonadotropins in preterm infants stimulates the ovaries to produce ovarian cysts as well as to secrete high amounts of estradiol. This induces a transient stimulation of the external and internal genitalia as in idiopathic or transient precocious puberty.

First-trimester prenatal diagnosis of a thoracic cystic lesion associated with fetal skin edema.

An unusual case of chest cyst diagnosed at the end of the first trimester in a dizygotic twin pregnancy and managed conservatively is reported. Between 11 and 14 weeks of gestation, ultrasound revealed a relatively large echopoor lung cyst occupying the left side of the chest, displacing the mediastinum and the heart. This was associated with increased nuchal translucency thickness and generalized skin edema. Subsequent sonograms showed complete resolution of the cyst together with the skin edema. The fetuses were delivered at term and had an uncomplicated postnatal outcome. This case emphasizes the role of reduced venous return as a cause of early fetal hydrops. Diagnosis and follow-up of a congenital lung cyst from the end of the first trimester should enable early intervention to be made.

An unusual congenital dorsal midline thoracic mass.

OBJECTIVE: To describe the presentation and investigation of an unusual form of congenital dorsal midline thoracic mass. RESULTS: An infant born by emergency Caesarean section at 34 weeks gestation was found to have a large dorsal midline thoracic mass. The infant had normal neurological function in all limbs. Radiological investigation showed no abnormality in the vertebrae. Ultrasonographic investigation suggested the mass to consist of subcutaneous oedema. The mass resolved completely within the first 2 weeks. CONCLUSIONS: The lesion observed in this infant represents a very unusual location for a benign condition caused by cervical pressure on the presenting fetal part. The use of ultrasonography enabled rapid exclusion of the more common, potentially serious, causes of a congenital midline dorsal thoracic mass.