ABSTRACT
Mastocytosis is an accumulation of clonal mast cells within tissues, commonly caused by mutations in the KIT proto-oncogene. This report describes the management of a neonate with diffuse cutaneous mastocytosis (DCM) caused by a rare activating KIT mutation, specifically internal tandem duplication of the Ala502Tyr503 pair on exon 9, and reviews current data regarding work-up of DCM in pediatric patients.
Subject(s)
Gene Expression Regulation, Developmental , Mastocytosis/drug therapy , Mastocytosis/genetics , Proto-Oncogene Proteins c-kit/genetics , Cetirizine/therapeutic use , Diphenhydramine/therapeutic use , Drug Therapy, Combination , Humans , Infant, Newborn , Male , Mastocytosis/diagnosis , Prognosis , Proto-Oncogene Mas , Ranitidine/therapeutic use , Severity of Illness Index , Treatment OutcomeABSTRACT
Epidermolysis bullosa (EB) refers to a heterogeneous group of genetic disorders characterized by epithelial fragility. We provide guidelines for management of pediatric patients with EB in the emergency department based on a review of literature, as well as insights from our own experiences caring for patients with EB. The purpose of the guidelines proposed is prevention of avoidable iatrogenic trauma to the skin and mucosa of patients with EB who are presenting to the emergency department for a variety of reasons.
Subject(s)
Epidermolysis Bullosa/epidemiology , Iatrogenic Disease/prevention & control , Mucous Membrane/injuries , Skin/injuries , Bandages/ethics , Bandages/standards , Emergency Service, Hospital , Epidermolysis Bullosa/physiopathology , Epidermolysis Bullosa/therapy , Humans , Mucous Membrane/pathology , Patient Care Management/ethics , Patient Care Management/methods , Practice Guidelines as Topic , Skin/pathology , Wounds and Injuries/therapyABSTRACT
Numerous cutaneous manifestations have been associated with use of BRAF inhibitors, including two previously reported cases of granuloma annulare (GA) eruptions associated with vemurafenib therapy. Both of these patients were being treated for metastatic melanoma. In this report, we describe the case of a 71-year-old man who developed classic GA lesions while being treated with vemurafenib monotherapy for nonmelanoma cancer, specifically metastatic lung adenocarcinoma positive for BRAF V600 mutation.
J Drugs Dermatol. 2017;16(10):1050-1052.
.Subject(s)
Adenocarcinoma/drug therapy , Antineoplastic Agents/adverse effects , Granuloma Annulare/chemically induced , Indoles/adverse effects , Lung Neoplasms/drug therapy , Sulfonamides/adverse effects , Adenocarcinoma/pathology , Adenocarcinoma of Lung , Aged , Antineoplastic Agents/administration & dosage , Humans , Indoles/administration & dosage , Lung Neoplasms/pathology , Male , Mutation , Neoplasm Metastasis , Proto-Oncogene Proteins B-raf/genetics , Sulfonamides/administration & dosage , VemurafenibABSTRACT
BACKGROUND: Sodium tetradecyl sulfate (STS) is Food and Drug Administration approved for treatment of varicose veins, but numerous other off-label applications have been reported. OBJECTIVE: To describe the clinical uses of STS, as well as efficacy and adverse effects. METHODS: Review of studies searchable on PubMed from 1938 to 2016 describing clinical uses of STS to determine efficacy and adverse effects associated with various applications. RESULTS: Sodium tetradecyl sulfate has shown efficacy in the treatment of varicose veins, telangiectasias, hemangioma, pyogenic granuloma, cherry angioma, Kaposi sarcoma, lymphangioma circumscriptum, digital mucous cyst, ganglion cyst, glomangioma, angiokeratoma of Fordyce, pseudocyst of the auricle, and verruca. Commonly reported side effects include pain, erythema, swelling, hyperpigmentation, telangiectatic matting, and ulceration. Serious side effects such as anaphylaxis, pulmonary embolism, stroke, and myocardial infarction have also been reported. Most sources were case reports and small prospective studies, as such the strength of data supporting many uses is limited by small sample sizes and lack of controls. CONCLUSION: Although not always the most effective method of treatment in off-label usage, use of STS has been frequently selected for a variety of applications for reasons of simplicity, low cost, lack of availability of technologically advanced equipment, and intricacies related to anatomic location.
