Precision diagnostics in paediatric dermatology: Advancing management of tinea capitis through dermatophyte PCR.

BACKGROUND: Tinea capitis (TC) is the most frequent dermatophyte infection in children requiring systemic and topical treatment for several weeks. Traditionally, diagnosis and treatment monitoring were based on microscopic examination and fungal culture of scales and plucked hairs, which both have significant limitations. OBJECTIVES: To investigate the role of dermatophyte polymerase chain reaction (PCR) in the treatment of TC. METHODS: Scales and plucked hairs of children with TC were investigated by dermatophyte PCR, microscopic examination and fungal culture at baseline and during antifungal treatment. RESULTS: Seventeen children with TC were included. At baseline, sensitivity of PCR was 100% as compared to 60% and 87% for direct microscopy and fungal culture, respectively. Species identification by PCR and fungal culture was consistent in all cases. During follow-up, analysis of 38 samples under treatment showed a sensitivity of PCR, direct microscopy and fungal culture of 68%, 26% and 89% while specificity was 84%, 100% and 100%, respectively. PCR during therapy proved to be false-negative in six and false-positive in three instances. The latter turned negative after 4 weeks without further systemic treatment. CONCLUSIONS: Dermatophyte PCR is an excellent tool for baseline diagnostics of TC providing rapid and accurate results. Our findings suggest that due to the fast and reliable results, it may replace direct microscopy and fungal culture to confirm or exclude TC in children. In the treatment course, diagnostic accuracy and performance of PCR seem reduced as compared to fungal culture, limiting its value for treatment monitoring. Mycological cure ascertained by fungal culture should currently remain the therapeutic goal.

Natural history of growth and anaemia in children with epidermolysis bullosa: a retrospective cohort study.

BACKGROUND: Impaired growth and anaemia are major extracutaneous complications of epidermolysis bullosa (EB), but data on their development are lacking. OBJECTIVES: To determine the clinical course of growth and anaemia in children with EB and clarify the impact of nutritional compromise, inflammation and genetic factors. METHODS: A retrospective study was conducted of 200 children, 157 with recessive dystrophic EB (RDEB) and 43 with junctional EB (JEB)-generalized intermediate, followed at the main referral centre in Germany. Growth charts were calculated using the modified LMS method and were correlated with parameters of anaemia, nutrition, inflammation and the molecular defect in a linear model. RESULTS: In our cohort of patients with RDEB, weight impairment started at 12-18 months old; by the age of 10 years, 50% showed wasting. The predicted median weight at age 20 years was 35·2 kg for men and 40·1 kg for women. In JEB, growth resembled that of healthy children. Anaemia was present from the second year of life onwards in RDEB and JEB. Low levels of haemoglobin, iron, vitamin D, zinc and albumin, high levels of C-reactive protein, and absence of collagen VII correlated significantly with low weight in RDEB. No correlation was observed in JEB. CONCLUSIONS: The results highlight that nutritional compromise occurs early in children with RDEB and therefore may require interventions as of the first year or two of life. What's already known about this topic? Children with epidermolysis bullosa (EB) suffer from failure to thrive and anaemia as major extracutaneous complications. The course of growth and the development of anaemia in EB are poorly characterized. What does this study add? A molecularly well characterized cohort of 200 children with EB was followed with regard to anthropometrics, anaemia and inflammation. We demonstrate early onset of growth failure and anaemia, most pronounced in the subset of recessive dystrophic EB. Awareness of early growth delay and nutritional deficiencies will improve EB care in daily practice.

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.

BACKGROUND: Several new genes and clinical subtypes have been identified since the publication in 2014 of the report of the last International Consensus Meeting on Epidermolysis Bullosa (EB). OBJECTIVES: We sought to reclassify disorders with skin fragility, with a focus on EB, based on new clinical and molecular data. METHODS: This was a consensus expert review. RESULTS: In this latest consensus report, we introduce the concept of genetic disorders with skin fragility, of which classical EB represents the prototype. Other disorders with skin fragility, where blisters are a minor part of the clinical picture or are not seen because skin cleavage is very superficial, are classified as separate categories. These include peeling skin disorders, erosive disorders, hyperkeratotic disorders, and connective tissue disorders with skin fragility. Because of the common manifestation of skin fragility, these 'EB-related' disorders should be considered under the EB umbrella in terms of medical and socioeconomic provision of care. CONCLUSIONS: The proposed classification scheme should be of value both to clinicians and researchers, emphasizing both clinical and genetic features of EB. What is already known about this topic? Epidermolysis bullosa (EB) is a group of genetic disorders with skin blistering. The last updated recommendations on diagnosis and classification were published in 2014. What does this study add? We introduce the concept of genetic disorders with skin fragility, of which classical EB represents the prototype. Clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors and natural history of EB are reviewed. Other disorders with skin fragility, e.g. peeling skin disorders, erosive disorders, hyperkeratotic disorders, and connective tissue disorders with skin fragility are classified as separate categories; these 'EB-related' disorders should be considered under the EB umbrella in terms of medical and socioeconomic provision of care. Linked Comment: Pope. Br J Dermatol 2020; 183:603.

Safe and effective use of alitretinoin in children with recalcitrant hand eczema and other dermatoses - a retrospective analysis.

BACKGROUND: Alitretinoin is a systemic retinoid licensed for use in adult patients suffering from chronic hand eczema recalcitrant to potent topical steroids. Experience with its use in childhood is lacking. OBJECTIVES: To report on the efficacy and safety of alitretinoin treatment in a cohort of children and adolescents with chronic hand eczema (CHE) and other inflammatory skin diseases. METHODS: We performed a retrospective chart review of all consecutive patients under the age of 18 years treated with alitretinoin at our paediatric skin centre. Physician's Global Assessment (PGA) was used as the primary outcome measure. RESULTS: Thirteen children (9 girls and 4 boys) were enrolled in this study. The median age at start of treatment with alitretinoin was 11.5 years (range 5.8-15.8 years). Nine children were diagnosed with CHE, two with severe atopic dermatitis (AD), and two with inherited ichthyosis [netherton syndrome (NS), autosomal recessive congenital ichthyosis (ARCI)]. Moderate to excellent response (PGA decrease of ≥1 point) was observed in 7 (78%) of the nine patients with CHE, one of the two patients with extensive AD and in the one patient with ARCI. In the remaining four subjects, no convincing effect was documented. Tolerability was overall very good. The most common adverse event was headache in 10 patients (77%) during the initiation of treatment, leading to interruption of therapy in one subject. CONCLUSIONS: Alitretinoin seems to be highly effective and safe for the treatment of paediatric CHE and should thus be considered in children with refractory disease under topical therapy. Larger studies are required to corroborate these findings.

[Acute skin infections and their imitators in children : A photo quiz]. / Akute Hautinfektionen und deren Imitatoren im Kindesalter : Ein Bilderquiz.

BACKGROUND: Skin infections account for 40% of emergency visits in pediatric dermatology. It is important to promptly recognize skin infections with potential complications and initiate treatment. However some characteristic skin findings may imitate skin infections and are often misdiagnosed. OBJECTIVES: To illustrate frequent pediatric skin infections and pitfalls in view of imitators and differential diagnoses. MATERIALS AND METHODS: A photo quiz is presented with the discussion of a selection of acute pediatric skin infections in comparison to their infectious or noninfectious differential diagnoses. RESULTS: The following infectious skin conditions and imitators are described and clinical clues for differentiation highlighted: eczema herpeticum and bacterial superinfection of atopic dermatitis; exanthematous hand, foot and mouth disease and varicella infection; erythema chronicum multilocularis and anular urticaria; Gianotti-Crosti syndrome and Gianotti-Crosti-like reaction; bacterial folliculitis of the scalp and kerion celsi and eosinophilic pustular folliculitis of the scalp; cutaneous Leishmaniasis and idiopathic facial aseptic granuloma; allergic and bacterial lymphangitis; bullous impetigo contagiosa and nonaccidental scalding. CONCLUSIONS: Careful anamnesis and skin examination with attention to the here illustrated differential diagnoses are essential to avoid pitfalls in the evaluation of acute pediatric skin infections.

Bacterial magnetosomes - nature's powerful contribution to MPI tracer research.

The magnetic particle spectrum (MPS) of bacterial magnetosomes, isolated from Magnetospirillum gryphiswaldense, is measured and compared to that of the current "gold standard", Resovist®. It is shown that the amplitudes of the magnetosomes' harmonics by far exceed that of Resovist®; the amplitude of the third harmonic is higher by a factor of 7, and is the highest value obtained for iron oxide nanoparticles to date.

[Selenium deficiency favors the appearance of heart failure after multiple injury]. / Carence en sélénium favorisant la survenue d'une défaillance cardiaque après un polytraumatisme.

A 47-year-old multiple trauma patient, experiencing a C. Difficile colitis with diarrhoea, developed diffuse oedema with peritoneal and pleural effusion due to global heart failure. Selenium deficiency, reported in trauma patients, may explain the occurrence of cardiomyopathy. The role of selenium in cardiac dysfunction and the various situations inducing a selenium deficiency are discussed.

Ultrasound derived imaging and quantification of cell adhesion molecules in experimental autoimmune encephalomyelitis (EAE) by Sensitive Particle Acoustic Quantification (SPAQ).

Molecular imaging requires, not only the identification of an appropriate marker, but also its quantitative analysis. We used the Sensitive Particle Acoustic Quantification (SPAQ) technology - a novel ultrasound technique - for detection and quantification of cell adhesion molecules in isolated tissue and in live animals. By conjugating gas-filled microparticles (MPs) with antibodies to intercellular adhesion molecule 1 (ICAM-1) and vascular cell adhesion molecule 1 (VCAM-1), we were able to depict and quantify ICAM-1 and VCAM-1 in isolated brain and spinal cord from rats with autoimmune encephalomyelitis (EAE), an established inflammatory disease model of human multiple sclerosis (MS). Depiction and quantification of specific MPs were also feasible in living animals with AT-EAE with similar results. After treatment with methylprednisolone, the measured number of targeted anti-ICAM-1 and VCAM-1-MPs was significantly lower (P<0.01) compared to untreated animals demonstrating the high sensitivity of this imaging technique. Depending on the antibody linked to the surface of the MPs, the technique can be used to quantify the expression of any accessible antigen expressed on the luminal surface of endothelial cells and is therefore a promising tool for the non-invasive and dynamic assessment of disease-related molecules.