Abdominoplasty and Thoraco-Epigastric Flaps for Large Anterior Trunk Defects after Dermatofibrosarcoma Protuberans Wide Resection: Two Illustrative Cases

INTRODUCTION: Excision of large dermatofibrosarcoma protuberans in the anterior aspect of the trunk often results in large surgical defects that frequently dictate the need for microsurgical reconstruction. However, this option is not always available. PRESENTATION OF CASE: The authors describe two patients with very large anterior trunk dermatofibrosarcoma protuberans: one in the epigastric region and the other in the hypogastric region. In the patient with the hypogastric tumor, a classical abdominoplasty flap associated with umbilical transposition was used to cover the skin defect after muscle and fascial plication, and placement of a polypropylene mesh. In the patient with the epigastric tumor, a synthetic mesh was also placed, and the skin and subcutaneous defect was reconstructed with a reverse abdominoplasty flap and two thoraco-epigastric flaps. In both cases, complete closure was possible without immediate or late complications. DISCUSSION: The local options described in this paper present several potential advantages compared to microsurgical reconstruction, namely they are easier and faster to perform and teach; they provide a good skin color and texture match; they are not associated with distant donor site morbidity; follow-up is usually less cumbersome; the post-operative hospital stay tends to be shorter; they are less costly; they are less prone to complete failure. CONCLUSION: The authors believe that these two patients clearly show that local flaps, although frequently neglected, continue to be valid options for reconstructing large anterior trunk defects, even in the current era of microsurgery enthusiasm.

Atrial Septal Defects

Atrial septal defects are the third most common type of congenital heart disease. Included in this group of malformations are several types of atrial communications that allow shunting of blood between the systemic and the pulmonary circulations. Most children with isolated atrial septal defects are free of symptoms, but the rates of exercise intolerance, atrial tachyarrhythmias, right ventricular dysfunction, and pulmonary hypertension increase with advancing age and life expectancy is reduced in adults with untreated defects. The risk of development of pulmonary vascular disease, a potentially lethal complication, is higher in female patients and in older adults with untreated defects. Surgical closure is safe and effective and when done before age 25 years is associated with normal life expectancy. Transcatheter closure offers a less invasive alternative for patients with a secundum defect who fulfil anatomical and size criteria. In this Seminar we review the causes, anatomy, pathophysiology, treatment, and outcomes of atrial septal defects in children and adult patients in whom this defect is the primary cardiac anomaly.

Novel FGFR1 Mutations in Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism: Evidence for the Involvement of an Alternatively Spliced Isoform

OBJECTIVE: To determine the prevalence of fibroblast growth factor receptor 1 (FGFR1) mutations and their predicted functional consequences in patients with idiopathic hypogonadotropic hypogonadism (IHH). DESIGN: Cross-sectional study. SETTING: Multicentric. PATIENT(S): Fifty unrelated patients with IHH (21 with Kallmann syndrome and 29 with normosmic IHH). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Patients were screened for mutations in FGFR1. The functional consequences of mutations were predicted by in silico structural and conservation analysis. RESULT(S): Heterozygous FGFR1 mutations were identified in six (12%) kindreds. These consisted of frameshift mutations (p.Pro33-Alafs*17 and p.Tyr654*) and missense mutations in the signal peptide (p.Trp4Cys), in the D1 extracellular domain (p.Ser96Cys) and in the cytoplasmic tyrosine kinase domain (p.Met719Val). A missense mutation was identified in the alternatively spliced exon 8A (p.Ala353Thr) that exclusively affects the D3 extracellular domain of FGFR1 isoform IIIb. Structure-based and sequence-based prediction methods and the absence of these variants in 200 normal controls were all consistent with a critical role for the mutations in the activity of the receptor. Oligogenic inheritance (FGFR1/CHD7/PROKR2) was found in one patient. CONCLUSION(S): Two FGFR1 isoforms, IIIb and IIIc, result from alternative splicing of exons 8A and 8B, respectively. Loss-of-function of isoform IIIc is a cause of IHH, whereas isoform IIIb is thought to be redundant. Ours is the first report of normosmic IHH associated with a mutation in the alternatively spliced exon 8A and suggests that this disorder can be caused by defects in either of the two alternatively spliced FGFR1 isoforms.