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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)
UNLABELLED 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(More)
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)
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)
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 Eczematous skin changes overlying port-wine stains have been reported to improve with pulsed-dye laser (PDL) treatment. However, PDL has not as yet been evaluated for the treatment of atopic dermatitis (AD; eczema). AIM To evaluate in a controlled trial the effects and safety of PDL treatment in children with AD who had chronic localized(More)
Clinical phenotype of 17 patients with naevus spilus congenital melanocytic naevi from our clinical practices. *PAS – projected adult size. §Multiple – i.e. two or more. Exact numbers are not given to avoid inaccuracy, as the smaller lesions are often very pale and difficult to distinguish, particularly in the first few years of life. Patient genotyped for(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)