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Integrin α(3) is a transmembrane integrin receptor subunit that mediates signals between the cells and their microenvironment. We identified three patients with homozygous mutations in the integrin α(3) gene that were associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin. The patients had a(More)
Beta-blockers are a highly promising treatment modality for complicated infantile hemangiomas (IH). However, data on propranolol as first-line treatment, objective outcome measures and impact on hemodynamics in young infants is limited. We retrospectively evaluated a homogenous group of infants with proliferating complicated IH treated with propranolol (2(More)
BACKGROUND Adalimumab is indicated for the treatment of moderate to severe psoriasis in adults. We assessed the efficacy and safety of adalimumab in children and adolescents with severe plaque psoriasis. METHODS This randomised, double-blind, multiperiod, phase 3 trial was done at 38 clinics in 13 countries. Patients (aged ≥4 to <18 years) with severe(More)
Netherton syndrome (NS) is a severe skin disease caused by loss-of-function mutations in SPINK5 (serine protease inhibitor Kazal-type 5) encoding the serine protease inhibitor LEKTI (lympho-epithelial Kazal type-related inhibitor). Here, we disclose new SPINK5 defects in 12 patients, who presented a clinical triad suggestive of NS with variations in inter-(More)
Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here we report 42 novel RASA1 mutations and the associated phenotype in 44 families. The penetrance and de novo occurrence were high. All affected individuals presented multifocal capillary(More)
BACKGROUND Localized scleroderma (LS) or morphoea is often considered to be a benign self-limiting condition confined to the skin and subcutaneous tissue. However, the course of the disease is unpredictable and severe functional and cosmetic disability may result. Drug treatment with systemic corticosteroids in combination with methotrexate has been(More)
OBJECTIVES This cross-sectional study assessed psychological adjustment and health-related quality of life (HRQOL) in children and adolescents with congenital or acquired facial differences and identified potential predictors of adjustment. METHODS Data were obtained from 88 children, ages 9 months to 16 years, by means of parent questionnaires (n = 86)(More)
QUESTIONS UNDER STUDY While skin disorders are commonly seen in paediatric emergency departments (PED), the exact frequency of the various dermatological conditions is unknown. Our aim was to evaluate the occurrence and spectrum of skin disorders in an urban PED and the need for a dermatological opinion. METHODS The medical records of patients attending(More)
OBJECTIVE Assessment of disease activity is a major challenge in the management of children with localized scleroderma. The aim of this study was to evaluate the role of laser Doppler flowmetry (LDF) in comparison with infrared thermography in the detection of scleroderma disease activity. METHODS In 41 children with localized scleroderma, 111 lesions(More)
BACKGROUND The aetiology of morphoea (or localized scleroderma) remains unknown. It has previously been suggested that lesions of linear morphoea may follow Blaschko's lines and thus reflect an embryological development. However, the distribution of linear morphoea has never been accurately evaluated. OBJECTIVES We aimed to identify common patterns of(More)