Kimberly D. Morel

Common Wound Colonizers in Patients with Epidermolysis Bullosa

Abstract:u2002 One of the major morbidities of patients with epidermolysis bullosa is the tendency to develop chronic wounds, which predisposes them to multiple complications including life‐threatening infections, failure to thrive, and squamous cell carcinomas. Chronic wounds frequently become colonized with bacteria, and we sought to identify the most common microorganisms isolated on cultures from patients with epidermolysis bullosa. We conducted a retrospective review of positive wound, nasal, and blood cultures, including bacterial, fungal and viral, in 30 patients with epidermolysis bullosa. Staphylococcus sp., Streptococcus sp., diptheroids, Pseudomonas aeruginosa, and Candida sp. were the most commonly isolated microorganisms in wound cultures from our epidermolysis bullosa patients. Two patients had viral cultures that grew herpes simplex virus type‐1. Bacterial colonization of chronic wounds can lead to infections and may also impact wound healing. Results from this study provide data on which to base empiric antibiotic choice in patients with epidermolysis bullosa when needed and may be useful in planning strategies for decolonization and improved wound healing in this population.

Prevalence and characterization of pruritus in epidermolysis bullosa.

Qualitative data suggest that pruritus is a burdensome symptom in patients with epidermolysis bullosa (EB), but the prevalence of pruritus in children and adults with EB and factors that contribute to pruritus are unknown. The objective of the current study was to quantitatively identify and to characterize pruritus that EB patients experience using a comprehensive online questionnaire. A questionnaire was developed to evaluate pruritus in all ages and all types of EB. Questions that characterize pruritus were included and factors that aggravate symptoms were investigated. Patients from seven North American EB centers were invited to participate. One hundred forty‐six of 216 questionnaires were completed (response rate 68%; 73 male, 73 female; median age 20.0 years). Using a 5‐point Likert scale (1 = never, 2 = rarely, 3 = sometimes, 4 = often, 5 = always), itchiness was the most bothersome EB complication (mean 3.3). The average daily frequency of pruritus increased with self‐reported EB severity. Pruritus was most frequent at bedtime (mean 3.8) and interfered with sleep. Factors that aggravated pruritus included healing wounds, dry skin, infected wounds, stress, heat, dryness, and humidity. Pruritus is common in individuals with EB and can be bothersome. Future studies will need to investigate the most effective treatments given to individuals with EB for pruritus.

Congenital Cutaneous Hemangioma Causing Cardiac Failure: A Case Report and Review of the Literature

We present a case of a large congenital hemangioma (CH) on the neck causing cardiac failure and thrombocytopenia in a female neonate. A trial of medical therapy with corticosteroids and propranolol was attempted, but the patient ultimately underwent definitive treatment with embolization and surgical resection with a positive outcome. A review of the English language literature revealed 16 previously reported cases of CHs complicated by congestive heart failure. This series supports known demographic features of CHs, including a lack of gender discrepancy and a predilection to affect the head and neck. These CHs are rarely diagnosed in utero; most patients present with a mass at birth. Cardiac failure is identified prenatally or in the first days of life. A mild to moderate thrombocytopenia and coagulopathy, which is likely transient and distinct from classic Kasabach‐Merritt phenomenon, accompanies many of these cases. There is a 30% associated mortality rate. Both medical and interventional treatment modalities have been reported. Steroids are the most commonly used medication, but without any clear benefit. We hypothesize that, based on its possible mechanisms of action,propranolol may be a more effective treatment for CHs requiring treatment. As surgical intervention may be necessary, we recommend a multidisciplinary approach to treating patients with problematic CHs.

Pityriasis Lichenoides in Childhood: Review of Clinical Presentation and Treatment Options

Pityriasis lichenoides (PL) is a skin condition of unclear etiology that occurs not uncommonly in childhood. It is often classified into the acute form, pityriasis lichenoides et varioliformis acuta (PLEVA), and the chronic form, pityriasis lichenoides chronica (PLC). We performed a comprehensive review of the English‐language literature using the PubMed database of all cases of childhood PL reported from 1962 to 2014 and summarized the epidemiology, clinical features, treatment options, and prognosis of this condition in children. The proposed etiologies are discussed, including its association with infectious agents, medications, and immunizations and evidence for PL as a lymphoproliferative disorder. We found an average age of PL onset of 6.5 years, with a slight (61%) male predominance. We also found that PLEVA and PLC tend to occur with equal frequency and that, in many cases, there is clinical and histopathologic overlap between the two phenotypes. When systemic therapy is indicated, we propose that oral erythromycin and narrowband ultraviolet B phototherapy should be first‐line treatment options for children with PL since they have been shown to be effective and well tolerated. In most cases, PL follows a benign course with no greater risk of cutaneous T‐cell lymphoma, although given the rare case reports of transformation, long‐term follow‐up of these patients is recommended.

Novel SLC39A4 Mutation in Acrodermatitis Enteropathica

Abstract:u2002 Acrodermatitis enteropathica (AE) is a rare autosomal‐recessive disorder characterized by dermatitis, alopecia, diarrhea, and retardation of growth and development. AE maps to 8q24.3 and is associated with mutations in the intestinal zinc transporter ZIP4 encoded by the gene SLC39A4. We describe a novel homozygous mutation, 1191insC, in SLC39A4 in a patient from Sierra Leone and suggest that AE should be considered within the differential diagnosis for acrodermatitis in children from Sierra Leone. Genetic testing for this founder mutation can be easily performed for this treatable disorder.

Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study.

Capillary malformation–arteriovenous malformation syndrome (CM‐AVM) is an autosomal dominant disorder caused by RASA1 mutations. The prevalence and phenotypic spectrum are unknown. Evaluation of patients with multiple CMs is challenging because associated AVMs can be life threatening. The objective of this study was to describe the clinical characteristics of children presenting with features of CM‐AVM to an academic pediatric dermatology practice. After institutional review board approval was received, a retrospective chart review was performed of patients presenting between 2009 and 2012 with features of CM‐AVM. We report nine cases. Presenting symptoms ranged from extensive vascular stains and cardiac failure to CMs noted incidentally during routine skin examination. All demonstrated multiple CMs, two had Parkes Weber syndrome, and two had multiple infantile hemangiomas. Seven patients had family histories of multiple CMs; three had family histories of large, atypical CMs. Six had personal or family histories of AVMs. Genetic evaluation was recommended for all and was pursued by six families; four RASA1 mutations were identified, including one de novo. Consultations with neurology, cardiology, and orthopedics were recommended. Most patients (89%) have not required treatment to date. CM‐AVM is an underrecognized condition with a wide clinical spectrum that often presents in childhood. Further evaluation may be indicated in patients with multiple CMs. This study is limited by its small and retrospective nature.

Evaluation of Wound Care Options in Patients with Recessive Dystrophic Epidermolysis Bullosa: A Costly Necessity

Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder in which mutations in collagen VII, the main component of the anchoring fibril, lead to skin fragility and to the development of acute and chronic wounds. Wound care and dressing changes are an important part of the daily lives of individuals with RDEB. Ideal wound care should improve wound healing, minimize pain, and improve quality of life. The objective of the current study was to review wound care options that might be used in a patient with RDEB and calculate the cost of these various options based on publicly available pricing of wound care products. There is a wide range of costs for wound care options in patients with RDEB. For example, a 1‐day supply of dressing for a neonate boy with RDEB ranges from

Evaluation of Treatments for Pruritus in Epidermolysis Bullosa

10.64 for the least expensive option to

Orbital Hemangioma with Intracranial Vascular Anomalies and Hemangiomas: A New Presentation of PHACE Syndrome?

127.54 for the most expensive option. Wound care in patients with severe, generalized RDEB has not only a significant economic effect, but also directly affects quality of life in this patient population. Although randomized controlled trials evaluating different wound care products in patients with RDEB are lacking, small studies and expert opinion support the use of specialized nonadherent dressings that minimize skin trauma and promote wound healing. Until there is a cure, prospective studies are needed to assess pain, quality of life, and wound healing associated with the use of specialized wound care products for this life‐altering condition.

Blueberry Muffin Rash as the Presenting Sign of Aicardi–Goutières Syndrome

Pruritus is a common complication in patients with epidermolysis bullosa (EB). There is limited published data about the treatments that individuals with EB use for pruritus. The objective of the current study was to determine quantitatively which treatments individuals with EB have used for pruritus and to evaluate the perceived effectiveness of these treatments in pruritus relief. A questionnaire was developed to evaluate the treatments and therapies used for pruritus in patients of all ages and for all types of EB. Questions about bathing products, moisturizers, topical products, oral medications, dressings, and alternative therapies were included. A 5‐point Likert scale (−2 = relieves itch a lot, −1 = relieves itch a little, 0 = no change, 1 = increases itch a little, 2 = increases itch a lot) was used to evaluate perceived effectiveness. Patients from seven North American EB centers were invited to participate. Greasy ointments (53.4%), lotions (45.2%), creams (40.4%), and oral hydroxyzine (39.0%) were the most frequently used treatments for pruritus. Treatments that were used frequently and perceived to be the most effective included creams (mean = −1.1), topical prescription corticosteroids (mean = −1.0), oils (mean = −0.9), oral hydroxyzine (mean = −0.9), topical diphenhydramine (mean = −0.9), and vaporizing rub (menthol, camphor, eucalyptus) (mean = −0.9). Systemic opioids (mean = 0.3), adherent bandages (mean = 0.3), and bleach baths (mean = 0.2) slightly increased pruritus. Randomized controlled trials of therapies will be necessary to develop evidence‐based recommendations for control of pruritus in individuals with EB.