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 .

[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.

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.

[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.

Nonimmune hydrops fetalis: report of 22 cases including three siblings.

Twenty-two cases of nonimmune hydrops fetalis (NIHF) seen over a three-year period are described. Eight cases were associated with major congenital anomalies, seven cases with minor anomalies or other disease entities, and seven idiopathic cases. The overall mortality rate was 50%, greatest in those cases complicated by major anomalies. The clinical problems commonly encountered in management of these patients are reviewed, and include prenatal detection, perinatal asphyxia, disseminated intravascular coagulopathy, fluid and electrolyte imbalance, and respiratory difficulty. A review of the literature for those entities found in association with NIHF is also included. The case studies of three consecutive siblings with NIHF born to the same parents are briefly analyzed.

Hydrops fetalis associated with Gaucher disease.

The rare association of hydrops fetalis with acute neuropathic Gaucher disease, diagnosed at autopsy, is described. Mechanisms for the fetal edema in this case are discussed. Unusual medial calcification of the aorta was present; and although its etiology is unknown, a possible relationship to Gaucher disease is suggested.

Teratogenic activity of Arasan fed to broiler breeder hens.

Tetramethylthiuramdisulfide (TMTD), the active ingredient in Arasan, fed to broiler breeder hens at 10, 20, or 40 ppm depressed egg production, reduced hatchability, and resulted in soft-shelled eggs. The progeny of these hens had anomalies manifested by bilaternal medial deviation of the toes, exophthalmia, and shortened femurs. Broiler breeder hens that consumed a ration containing 80 ppm of TMTD produced only soft-shelled eggs.

The corneal endothelial dystrophies.

Three major types of corneal endothelial dystrophies i.e. congenital hereditary corneal oedema, posterior polymorphous dystrophy and Fuchs endothelial dystrophy are reviewed. Clinical and histopathological characteristics are discussed and results of surgical management presented.

[Non-immunologic hydrops fetalis. Considerations apropos of a case associated with a chorioangioma of the placenta]. / Idrope fetale non immunologica. Considerazioni a proposito di un caso associato a corioangioma della placenta.

A case of hydrops fetalis in a newborn infant in association with a choroangioma of the placenta in described. It was only with a report in 1943 by Potter that nonimmunologic hydrops fetalis was identified. Until recently immunologic hydrops fetalis secondary to Rh incompatibility has been the most frequent cause for infants with this condition. Presently, because of the decline in the incidence of Rh sensitization, non immunologic hydrops fetalis accounts for a larger number of cases. Numerous etiologies have been reported with the occurrence of non immunologic hydrops fetalis: a review of the literature for those entities found in association with this condition is inclused.

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.