Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or -related overgrowth spectrum.

Purpose: Drugs that attenuate hyperactivation of the phosphatidylinositol 3-kinase-Akt and Ras-mitogen-activated protein kinase signaling pathways are emerging treatments for children with rare, intractable vascular anomalies or related overgrowth spectrum (PROS) with an eligible genetic diagnosis. However, access to genetic testing remains a barrier to genetic diagnosis. Here, we implement a targeted molecular diagnostic strategy for vascular anomalies or PROS.

Response to sirolimus in capillary lymphatic venous malformations and associated syndromes: Impact on symptomatology, quality of life, and radiographic response.

Background: Capillary lymphatic venous malformations (CLVM) and associated syndromes, including Klippel-Trenaunay syndrome (KTS) and congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal, and spinal syndrome (CLOVES), are underrecognized disorders associated with high morbidity from chronic pain, recurrent infections, bleeding, and clotting complications. The rarity of these disorders and heterogeneity of clinical presentations make large-scale randomized clinical drug trials challenging. Identification of PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [gene]) mutations in CLVM has made targeted medications, such as sirolimus, attractive treatment options.

Late growth of infantile hemangiomas in children >3 years of age: A retrospective study.

Background: The proliferative phase of infantile hemangiomas (IHs) is usually complete by 9 months of life. Late growth beyond age 3 years is rarely reported.

Objective: To describe the demographic and clinic characteristics of a cohort of patients with late growth of IH, defined as growth in a patient >3 years of age.

Wound management of ulcerated haemangioma of infancy - an audit.

Haemangioma of infancy, a benign tumour of blood vessels, is the most common tumour of infancy. Ulceration, the most common complication, presents a unique wound care challenge. A retrospective audit of medical records of children with haemangioma of infancy who presented to the Royal Children's Hospital, Melbourne, Australia, between January 2000 and December 2014 was undertaken with an aim to examine wound management of ulcerated haemangioma of infancy.

Adverse effects of topical corticosteroids in paediatric eczema: Australasian consensus statement.

Atopic eczema is a chronic inflammatory disease affecting about 30% of Australian and New Zealand children. Severe eczema costs over AUD 6000/year per child in direct medical, hospital and treatment costs as well as time off work for caregivers and untold distress for the family unit. In addition, it has a negative impact on a child's sleep, education, development and self-esteem.

A randomized, controlled trial of oral propranolol in infantile hemangioma.

Background: Oral propranolol has been used to treat complicated infantile hemangiomas, although data from randomized, controlled trials to inform its use are limited.

Methods: We performed a multicenter, randomized, double-blind, adaptive, phase 2-3 trial assessing the efficacy and safety of a pediatric-specific oral propranolol solution in infants 1 to 5 months of age with proliferating infantile hemangioma requiring systemic therapy. Infants were randomly assigned to receive placebo or one of four propranolol regimens (1 or 3 mg of propranolol base per kilogram of body weight per day for 3 or 6 months).

Infantile haemangiomas that failed treatment with propranolol: clinical and histopathological features.

Aim: To describe the clinical and histopathological characteristics of infantile haemangiomas that failed treatment with oral propranolol .

Design: This study is a case series from the vascular birthmarks clinic at Royal Children's Hospital, Melbourne.

Patients: The patients for this study were infants who commenced treatment with oral propranolol before 6 months of age and who were treated for at least 4 months without a satisfactory result.

Headache after lumbar puncture: randomised crossover trial of 22-gauge versus 25-gauge needles.

Objectives: To compare the frequency of headache and the procedure time following lumbar puncture (LP) using a 25-gauge needle compared to a 22-gauge needle.

Design: 4-period crossover blinded randomised controlled trial.

Setting: Oncology unit, Royal Children's Hospital, Melbourne.

Use of propranolol for treatment of infantile haemangiomas in an outpatient setting.

Introduction: Propranolol has recently emerged as an effective drug treatment for infantile haemangiomas. The side effect profile of the drug and the safety of administering propranolol in outpatient settings in this age group remain uncertain. We report our experience with 200 infants and children prescribed propranolol to treat infantile haemangiomas, including 37 patients considered to have a poor response to treatment.

Keratosis pilaris rubra: a common but underrecognized condition.

Background: Keratosis pilaris is a common skin disorder of childhood that often improves with age. Less common variants of keratosis pilaris include keratosis pilaris atrophicans and atrophodermia vermiculata.

Observations: In this case series from dermatology practices in the United States, Canada, Israel, and Australia, the clinical characteristics of 27 patients with keratosis pilaris rubra are described.

Erosive pustular dermatosis of the scalp after perinatal scalp injury.

We report four infants born with necrotic caput succedaneum that led to a scarring alopecia with ongoing inflammation and persistent scale-crust. These lesions did not significantly improve with topical or oral antibiotics, but did respond somewhat to topical corticosteroids. Alopecia with chronic erosive scale-crust and a moderate response to topical corticosteroids are findings consistent with a diagnosis of erosive pustular dermatosis of the scalp.

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.

Laryngo-onycho-cutaneous (LOC or Shabbir) syndrome (OMIM 245660) is an autosomal recessive epithelial disorder confined to the Punjabi Muslim population. The condition is characterized by cutaneous erosions, nail dystrophy and exuberant vascular granulation tissue in certain epithelia, especially conjunctiva and larynx. Genome-wide homozygosity mapping localized the gene to a 2 Mb region on chromosome 18q11.