Identification of Codon 146 Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies.

Mosaic RASopathies are a molecularly heterogeneous group of (neuro)cutaneous syndromes with high phenotypical variability. Postzygotic variants in have been described in oculoectodermal syndrome (OES), encephalocraniocutaneous lipomatosis (ECCL) and epidermal nevus syndrome (ENS). This study confirms the continuum of mosaic neurocutaneous RASopathies showing codon 146 variants in an individual with OES and, for the first time, in an individual with (isolated) epidermal nevus.

The proactive wet-wrap method with diluted corticosteroids versus emollients in children with atopic dermatitis: a prospective, randomized, double-blind, placebo-controlled trial.

Background: Wet-wrap treatment (WWT) has been advocated as a relatively effective treatment in children with severe atopic dermatitis (AD). WWT often serves as crisis intervention for AD.

Objectives: We sought to evaluate the use of WWT with diluted corticosteroids in comparison with emollient in children with severe AD during 4 weeks in a proactive schedule during which the frequency of corticosteroid applications was tapered.

The Bazex-Dupré-Christol syndrome.

Background: The Bazex-Dupré-Christol syndrome is characterized by follicular atrophoderma, congenital hypotrichosis, and basal cell neoformations that include basal cell carcinomas and basal cell nevi.

Observations: We describe a large family in which 20 persons across four generations present with typical features of the Bazex-Dupré-Christol syndrome. However, the clinical picture in this family differs with regard to gender and age.

Systemic contact dermatitis from subcutaneous hydromorphone.

We report a patient who developed a generalized dermatitis after a period of progressive local intolerance to continuous subcutaneous infusion of hydromorphone for cancer pain. Sensitization to hydromorphone was proved by a positive patch test. Infusions with an equianalgesic dose of diacetylmorphine were well tolerated, without local or systemic side-effects, and prolonged the duration of infusion sites.

Perinatal manifestations of maternal yellow nail syndrome.

A term female firstborn infant had unexplained nonimmune fetal hydrops and recurrent left chylothorax at 4 weeks of age. A few months before conception, her mother had had acute dystrophic nail changes and is being treated for recurrent sinusitis, bronchiectasis, and a deficiency of serum IgG2. We suggest that they both suffer from a dominantly inherited congenital lymphedema syndrome known as 'yellow nail dystrophy.

Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings).

The Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical, morphological, and ultrastructural studies, as well as hair analysis, were performed in a patient with Shwachman's syndrome and severe ichthyosis. Clinical findings were lamellar ichthyosiform desquamation on the extremities.

Repeated cultured epidermal allografts in the treatment of chronic leg ulcers of various origins.

Twelve patients with 16 leg ulcers, existing for at least 3 months and not responsive to conventional inpatient therapy of at least 3 weeks, were treated with repeated applications of cultured allogenic keratinocyte sheets. A marked decrease in size was seen in all ulcers but 2. Complete closure of the ulcer was seen in 62% of the ulcers within 8 weeks.

The effect of two months of treatment with inhaled budesonide on bronchial responsiveness to histamine and house-dust mite antigen in asthmatic children.

We studied the effect of 2 months of treatment with budesonide (BUD) (Pulmicort), an inhaled corticosteroid, on the bronchial hyperresponsiveness to house-dust mite antigen (BHR-HDM) and to histamine (BHR-H). We also investigated whether BUD started 20 to 24 h after the development of a late asthmatic reaction (LAR) would influence the antigen-induced increase in nonspecific bronchial hyperresponsiveness to BHR-H. Thirty-one children with mild asthma who were atopic to HDM were randomized double blind into two parallel groups.