FIMARAD: The French rare skin diseases network Bodemer, C; Taïeb, C; Vidaud, D ...
Annales de dermatologie et de vénéréologie,
2018 Aug - Sep, Letnik:
145, Številka:
8-9
Journal Article
Summary
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.
Linked Comment: Pope. Br J Dermatol 2020; 183:603.
Plain language summary available online
Background
Secukinumab has demonstrated sustained long‐term efficacy with a favourable safety profile in various psoriatic disease manifestations in adults.
Objectives
Here, the efficacy and safety ...of two secukinumab dosing regimens low dose (LD) and high dose (HD) in paediatric patients with severe chronic plaque psoriasis over one year are reported.
Methods
In this multicentre, double‐blind study (NCT02471144), patients aged 6 to <18 years with severe chronic plaque psoriasis were stratified and randomized by weight (<25 kg, 25 to <50 kg, ≥50 kg) and age (6 to <12 years, 12 to <18 years) to receive low‐dose (LD: 75/75/150 mg) or high‐dose (HD: 75/150/300 mg) subcutaneous secukinumab or placebo or etanercept 0.8 mg/kg (up to a max of 50 mg).
Results
Overall, 162 patients were randomized to receive secukinumab LD (n = 40) or HD (n = 40), etanercept (n = 41) or placebo (n = 41). The co‐primary objectives of the study were met with both secukinumab doses (LD and HD) showing superior efficacy compared to placebo (P < 0.0001) with respect to PASI 75 response (80.0%, 77.5% vs. 14.6%) and IGA mod 2011, 0 or 1 response (70%, 60% vs. 4.9%) at Week 12. Both secukinumab doses were superior to placebo (P < 0.0001) with respect to PASI 90 response at Week 12 (72.5%, 67.5% vs. 2.4%). The efficacy of both doses was sustained to Week 52 with secukinumab achieving higher responses vs. etanercept (PASI 75/90/100: LD, 87.5%/75.0%/40.0% and HD, 87.5%/80.0%/47.5.% vs. etanercept, 68.3%/51.2%/22.0% and IGA 0 or 1: LD, 72.5% and HD, 75.0% vs. etanercept, 56.1%). The safety profile of secukinumab was consistent with the adult Phase 3 studies, with no new safety signals identified.
Conclusions
Both doses of secukinumab demonstrated high and sustained efficacy up to Week 52 with a favourable safety profile in paediatric patients with severe chronic plaque psoriasis.
Summary
Background
No specific or curative therapy exists for hereditary palmoplantar keratoderma (hPPK), which can profoundly alter patient quality of life, leading sometimes to severe functional ...impairment and pain. The rarity and the aetiological diversity of this group of disorders can explain the difficulty in comparing the efficacy of available treatments.
Objectives
To review the different treatments tried in patients with hPPK since 2008, their efficacy and safety, with an evaluation of the various therapeutic modalities that can be used to treat hPPK.
Methods
We undertook a comprehensive review of the literature data published since 2008.
Results
Only a few case series and individual case reports were identified. Topical (emollients, keratolytics, retinoids, steroids) and systemic treatments (mostly different retinoids), often combined, are used to relieve symptoms. Oral retinoids appear to be the most efficient treatment, but not in all PPK forms, and with variable tolerance. New targeted treatments, according to the specific mechanisms of hPPK, appear promising for the future.
Conclusions
More studies using robust methodology and involving larger cohorts of well‐characterized patients (phenotype–genotype) are necessary and should be prioritized by structured networks, such as the European Network for Rare Skin Diseases (ERN‐Skin), with the aim of better management of patients with rare skin diseases.
What is already known about this topic?
Various symptomatic treatment options exist for hereditary palmoplantar keratoderma (hPPK), with variable efficacy.
What does this study add?
This exhaustive review of the literature data performed by several experts of the European Network for Rare Skin Diseases summarizes the current treatment of hPPK and provides a good foundation for future clinical trials.
Plain language summary available online
How to take decision for others Moyal-Barracco, M; Malet, R; Bodemer, C ...
Annales de dermatologie et de vénéréologie
139, Številka:
11
Journal Article
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