Recurrent PIK3CA H1047R-Mutated Congenital Infiltrative Facial Lipomatosis: A Case Report and Review of Literature.

Congenital infiltrating lipomatosis of the face (CILF) is a rare, congenital, nonhereditary facial overgrowth due to post-zygomatic activating mutations in PIK3CA gene. It is unilateral and involves hypertrophy of both the soft and hard tissue structures on the affected side of the face. This commonly results in early eruption of the teeth, hypertrophy of the facial bones, macroglossia, and proliferation of the parotid gland. Less than 80 cases of CILF have been reported in the literature so far. Treatment modalities include liposuction and surgical excision. However, since the hallmark of CILF is mutation in the PIK3CA gene, PI3K inhibitors may play a therapeutic role in CILF. We report a case of an 8-year-old boy with recurrent CILF of the scalp and nose, with PIK3CA H1047R mutation. We discuss the differential diagnoses, clinical outcomes, and management of this rare entity.

Extremity Arterial Thromboses in Hospitalized Children: A National Database Analysis of Prevalence and Therapeutic Interventions.

OBJECTIVES: The purpose of this study was to evaluate the prevalence, demographics, predisposing conditions, therapeutic interventions, and outcomes of extremity arterial thrombosis in hospitalized children. DESIGN: Retrospective cohort study. PATIENTS: National discharge database analysis. MEASUREMENTS AND MAIN RESULTS: Cases of extremity arterial thrombosis in children and neonates were extracted from the Kids' Inpatient Database 2012. These were analyzed and compared with other discharges for prevalence, demographics, treatments, outcomes, and further analyzed by age group and select predisposing conditions. A total of 961 children with extremity arterial thrombosis (prevalence of 2.35/10,000 discharges) were included in our analysis. The median age of extremity arterial thrombosis patients was significantly lower when compared with other pediatric discharges (1 yr [interquartile range, 0-15 yr) vs 3 yr [interquartile range, 0-16 yr]; p < 0.0001). The proportion of females with extremity arterial thrombosis was lower (41.4% vs 53.3%; odds ratio, 0.62; 95% CI, 0.55-0.70) with no racial/ethnic variation in the prevalence of extremity arterial thrombosis. An upper extremity was involved in 18.1% and a lower extremity in 83.3%. Arterial cannulation and cardiac catheterization were much more common in the younger age groups. External trauma was documented in 13.2% of all patients with extremity arterial thrombosis and was more frequent in older age groups. A systemic thrombolytic medication was administered to 5.7% of the patients, thromboembolectomy was performed in 11.8% of the cases, and 3.1% of the patients required amputation. There was a significant variation in the use of thrombolysis, thrombectomy/embolectomy, or requirement for amputation limb based on age groups and underlying predisposing condition. CONCLUSIONS: The study describes the national prevalence of extremity arterial thrombosis in hospitalized children. The management strategies of extremity arterial thrombosis vary with age and underlying predisposing factors.

Bilateral Neuropathy Dermatitis Following Simultaneous Bilateral Total Knee Arthroplasty: A Case Report.

CASE: A 65-year-old man developed bilateral knee dermatitis in the distribution of the infrapatellar nerve 3 months following uncomplicated simultaneous bilateral total knee arthroplasty (TKA) for osteoarthritis. The patient was treated with topical corticosteroids, and the rash had resolved after 6 months. At the 2-year follow-up, there had been no recurrences. CONCLUSION: Neuropathy dermatitis is a rare cutaneous complication of TKA. Although a few theories exist, there is no definitive explanation for the underlying pathophysiology of this disease process.

Effects of Tobacco Smoking on the Dorsum of the Tongue and Buccal Epithelium

Objective: The aim of this study was to assess the effects of tobacco smoking on the dorsum of the tongue and buccal epithelium. Methodology: This case control cross-sectional study was conducted with 174 smoking and non-smoking volunteers living in the city of Hail, Northern KSA. Cytological Materials were obtained from buccal mucosa and dorsum of the tongue, and assessed using cytopathological methods. Results: In buccal smears, cytological atypia was observed in 17 out of 101 (16.8%) smoker cases but only 3/73(4.1%) of the controls. For cytological atypia in buccal and tongue smears, the adjusted odd ratio (OR) and the 95% confidence interval (CI) were found to be 4.7 (1.3-16.8), P < 0.016)) and 4.3 (0.93- 20.2), P <0.06)), respectively, in the two sites. Conclusion: Tobacco smoking is a major risk factor for occurrence of cytological atypia, which might subsequently develop into oral precancerous and cancerous lesions. Oral exfoliative cytology is an easy and cheap non-invasive procedure which appears highly suitable for screening populations at risk of developing oral cancer.

Five-step Correction of Congenital Symmastia.

Congenital symmastia is distressing and difficult to treat, and traditional surgical modalities have met with limited success. We present a novel approach for a patient that failed all traditional surgical options. The anatomic deformity is analyzed using a modified version of Blondeel's 3-step analysis (conus, footprint, and skin envelope, to which we added a fourth element "intermammary web"). Combining operative principles from breast cancer reconstruction, we describe 5 operative steps that help correct the deformity, followed by a new postoperative splinting regimen that addresses the common pitfalls that could lead to recurrence.

A new approach to management of intravenous infiltration in pediatric patients: pathophysiology, classification, and treatment.

Intravenous (IV) infiltrations are problematic complications associated with hospitalization. Treatment methods vary greatly on the basis of physician judgment and institutional protocol, and uniform methods for effective prevention and economical treatment of IV infiltrations are necessary. Common in neonatal and infant patients, infiltration is frequently associated with cosmetic and functional complications. Medicolegal issues for physicians and institutions also accompany many cases of infiltration. This article discusses the pathophysiology of IV infiltrations. It also presents a new scale for IV infiltrations that more accurately reflects issues common to neonatal and pediatric patients and describes a novel, noninvasive treatment. A quantitative study of the decrease in morbidity after implementing this protocol will be conducted pending institutional approval.

Hemangiomas revisited: the useful, the unusual and the new. Part 1: overview and clinical and imaging characteristics.

Hemangiomas are common vascular tumors occurring in children. Though most of the lesions present in infants and young children with a typical appearance, it is important to understand that they all do not behave in the same way. Rather, they are a group of vascular lesions with different clinico-pathological subtypes, with their clinical behavior varying with the stage of the tumor as well. As such, they can and do have a varied clinical, imaging and pathological appearance according to the location of the tumor and also the stage at which the patient is seen. In this pictorial essay, the classification, pathogenesis, clinical appearance, natural history and imaging characteristics of hemangiomas are reviewed and illustrated.

Hemangiomas revisited: the useful, the unusual and the new. Part 2: endangering hemangiomas and treatment.

Hemangiomas, although benign tumors, can when located in particular regions threaten vital structures or in certain clinical circumstances be associated with other abnormalities, carrying significant morbidity and mortality. We review these endangering hemangiomas. We also discuss briefly the treatment with emphasis on the recent use of propranolol.

Diagnosis and excision of an ulnar artery aneurysm in a two-year-old boy.

Ulnar artery aneurysms in children younger than 10 years of age are rare, with fewer than 10 reported cases worldwide. Unlike adult arterial aneurysms, the etiology of these lesions in children is not well understood, and there is no accepted method for treating these lesions. The method of diagnosis and excision of an ulnar artery aneurysm that showed a favourable outcome in a two-year-old boy is presented. Different approaches to treating similar lesions have been reported, and these approaches are briefly reviewed.

V.A.C. Therapy in the management of paediatric wounds: clinical review and experience.

Usage of negative pressure wound therapy (NPWT) in the management of acute and chronic wounds has grown exponentially in the past decade. Hundreds of studies have been published regarding outcomes and methods of therapy used for adult wounds. This treatment is increasingly being used to manage difficult-to-treat paediatric wounds arising from congenital defects, trauma, infection, tumour, burns, pressure ulceration and postsurgical complications in children, although relatively few studies have been aimed at this population. Given the anatomical and physiological differences between adults and children, a multidisciplinary expert advisory panel was convened to determine appropriate use of NPWT with reticulated open cell foam (NPWT/ROCF) as delivered by Vacuum Assisted Closure (V.A.C. Therapy, KCI Licensing, Inc., San Antonio, TX) for the treatment of paediatric wounds. The primary objectives of the expert advisory panel were to exchange state-of-practice information on paediatric wound care, review the published data regarding the use of NPWT/ROCF in paediatric wounds, evaluate the strength of the existing data and establish guidelines on best practices with NPWT/ROCF for the paediatric population. The proposed paediatrics-specific clinical practice guidelines are meant to provide practitioners an evidence base from which decisions could be made regarding the safe and efficacious selection of pressure settings, foam type, dressing change frequency and use of interposing contact layer selections. The guidelines reflect the state of knowledge on effective and appropriate wound care at the time of publication. They are the result of consensus reached by expert advisory panel members based on their individual clinical and published experiences related to the use of NPWT/ROCF in treating paediatric wounds. Best practices are described herein for novice and advanced users of NPWT/ROCF. Recommendations by the expert panel may not be appropriate for use in all circumstances. Decisions to adopt any particular recommendation must be made by the collaborating medical team, including the surgeon and wound care specialist based on available resources, individual patient circumstances and experience with the V.A.C. Therapy System.

Extramammary Paget's disease of the perineum: Avoiding pitfalls in diagnosis and management.

Extramammary Paget's disease (EMPD) is a rare entity, especially in the perinoscrotal region, and typically presents in elderly white patients as a pruritic white or red patch in the area of distribution of apocrine glands. Typically, it affects a single site. Since its manifestations are insidious and easily misdiagnosed, the appropriate management is delayed. Management of this problem is complex and effective treatment can not only lower recurrence rates but also provide an optimal reconstructive result. The present report describes three patients with scrotal EMPD. Based on literature search, the etiopathology, diagnosis and management of these lesions is discussed. Reconstructive options, with special emphasis on scrotal lesions, are also discussed.

La maladie de Paget extramammaire (MPEM) est une maladie rare qui se manifeste surtout dans la région périnéoscrotale et qui se présente généralement chez des personnes âgées de race blanche sous forme de tache prurigineuse rougeâtre ou blanchâtre dans la zone de distribution des glandes apocrines. D'ordinaire, elle atteint un seul foyer. Puisque ses manifestations sont insidieuses et faciles à mal diagnostiquer, sa prise en charge convenable est retardée. D'ailleurs, cette prise en charge est complexe. Toutefois, un traitement efficace peut non seulement faire chuter le taux de récidive mais également assurer une reconstruction optimale. Le présent rapport décrit trois patients atteints d'une MPEM scrotale. Compte tenu d'une recherche dans la documentation scientifique, l'étiopathologie, le diagnostic et la prise en charge de ces lésions sont abordés. Les possibilités de reconstruction, surtout axées sur les lésions scrotales, sont également examinées.