Lucia Diaz

2014 update on atopic dermatitis in children.

Purpose of review The prevalence of pediatric atopic dermatitis (AD) has increased throughout the world, now ranging from 10 to 20% in developed countries. Pediatric patients with AD make up a substantial proportion of patients seen by general pediatricians, allergists, dermatologists, and other specialists. As such, there is a need to optimize understanding and management of AD. Recent findings The traditional atopic comorbidities of AD have now expanded to include associations with nonatopic conditions such as attention deficit hyperactivity disorder. Furthermore, with insights from basic, translational, and clinical research, experts have a more comprehensive knowledge of the genetic, immunological, and environmental factors influencing the development of AD. With this new perception, innovative approaches to the management of AD have developed with an emphasis on preventive rather than reactive care. The role of biological agents in the treatment of this common, yet chronic, disease of the skin has not been clearly elucidated. Summary There have been several recent breakthroughs in the diagnosis, pathophysiology, and management of AD. Despite these advances, much work is still needed in order to ensure optimal care for AD sufferers.

Isotretinoin and Timing of Procedural Interventions: A Systematic Review With Consensus Recommendations.

Importance The notion that systemic isotretinoin taken within 6 to 12 months of cutaneous surgery contributes to abnormal scarring or delayed wound healing is widely taught and practiced; however, it is based on 3 small case series from the mid-1980s. Objective To evaluate the body of literature to provide evidence-based recommendations regarding the safety of procedural interventions performed either concurrently with, or immediately following the cessation of systemic isotretinoin therapy. Evidence Review A panel of national experts in pediatric dermatology, procedural/cosmetic dermatology, plastic surgery, scars, wound healing, acne, and isotretinoin was convened. A systematic PubMed review of English-language articles published from 1982 to 2017 was performed using the following search terms: isotretinoin, 13-cis-retinoic acid, Accutane, retinoids, acitretin, surgery, surgical, laser, ablative laser, nonablative laser, laser hair removal, chemical peel, dermabrasion, wound healing, safety, scarring, hypertrophic scar, and keloid. Evidence was graded, and expert consensus was obtained. Findings Thirty-two relevant publications reported 1485 procedures. There was insufficient evidence to support delaying manual dermabrasion, superficial chemical peels, cutaneous surgery, laser hair removal, and fractional ablative and nonablative laser procedures for patients currently receiving or having recently completed isotretinoin therapy. Based on the available literature, mechanical dermabrasion and fully ablative laser are not recommended in the setting of systemic isotretinoin treatment. Conclusions and Relevance Physicians and patients may have an evidence-based discussion regarding the known risk of cutaneous surgical procedures in the setting of systemic isotretinoin therapy. For some patients and some conditions, an informed decision may lead to earlier and potentially more effective interventions.

Neonatal and Pediatric Dermatologic Emergencies

A wide variety of neonatal and childhood dermatologic conditions can be emergencies. These may arise from genetic disorders, including those causing skin structural protein and keratin dysfunction, vascular birthmarks with systemic associations, autoimmune disorders, and infections. If left untreated, these conditions can lead to systemic effects or may increase the risk of developing secondary complications, potentially resulting in death. It is therefore important that these entities be rapidly identified and addressed. The following pages present a limited collection of some of the most important emergency situations.

Hyper-immunoglobulin D syndrome with novel mutations in an afebrile infant

Hyper‐immunoglobulin D syndrome is a rare autosomal‐recessive autoinflammatory syndrome in which a mevalonate kinase deficiency results due to mutations of the mevalonate kinase gene. We report a case of an Asian male infant who was found to have hyper‐immunoglobulin D syndrome in the absence of fever. His skin manifestations included cephalic pustulosis as well recurrent transient and fixed pink plaques and nodules on the face and extremities. Subsequent examination revealed hyper‐immunoglobulin D syndrome with two novel allelic mutations in the mevalonate kinase gene: c.895G > A (p.D299N) and c.1168C > T (p.Q390). It is important for dermatologists to recognize the varied cutaneous presentations of hyper‐immunoglobulin D syndrome because rapid diagnosis and treatment can significantly affect outcomes.

Dermatofibrosarcoma protuberans in pediatric patients: A diagnostic and management challenge

COL1A1: collagen 1 a1 DF: dermatofibroma DFSP: dermatofibrosarcoma protuberans FISH: fluorescence in situ hybridization JXG: juvenile xanthogranuloma PDGFB: platelet-derived growth factor-b INTRODUCTION Spindle cell tumors occur in the pediatric population and can prove to be aggressive clinically, as in the case with dermatofibrosarcoma protuberans (DFSP). Soft tissue sarcomas represent less than 1% of malignant tumors overall, and the prevalence of DFSP before 20 years of age is 1.0 per million. This malignancy is characterized by invasive growth, low frequency of metastasis, and a tendency to relapse locally, making it a high-morbidity tumor. DFSP has an insidious onset with slow growth, requiring a high index of clinical suspicion and ultimately a biopsy for diagnosis. The heterogeneous presentation of the tumor often leads to a delay in diagnosis, partly because of a differential diagnosis that includes a number of benign entities such as scars, vascular malformations, dermal dendrocyte hamartoma (CD34 dermal fibroma), dermatofibroma, and others. Histologically, DFSP exhibits small, elongated cells arranged in a storiform pattern extending into the subcutaneous fat. The infiltrative pattern of DFSP aids in distinguishing it from benign entities, which can have similar elongated cells in a storiform pattern that lack infiltrative features, but this is often not sufficient for definitive diagnosis. When classification of a spindle cell tumor is not evident through routine histopathology alone, immunohistochemistry studies and fluorescence in situ hybridization (FISH) for the platelet-derived growth factor-b (PDGFB) rearrangement can be useful ancillary tests.

Diffuse Hepatic Hemangiomas Successfully Treated Using Sirolimus and High‐Dose Propranolol

Diffuse hepatic hemangiomas are a challenging disease that can be life threatening. We present the case of an infant with diffuse hepatic hemangiomas who failed first‐line therapies but later responded to sirolimus and high‐dose propranolol.

Adams–oliver Syndrome Type 2 in Association with Compound Heterozygous dock6 Mutations

Adams–Oliver syndrome (AOS) is a multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLDs). We present a case of type 2 autosomal recessive AOS associated with heterozygous mutations in the dedicator of cytokinesis 6 (DOCK6) gene, with characteristic findings of ACC, TTLD, intracerebral periventricular calcifications, and polymicrogyria.