Paediatric Dermatology
Does the gene matter? Genotype–phenotype and genotype–outcome associations in congenital melanocytic naevi
Version of Record online: 09 August 2019
What's already known about this topic?
What does this study add?
- Multiple congenital melanocytic naevi (CMN) have been shown to be caused by NRAS mosaic mutations in 70–80% of cases, by BRAFmosaicism in one case report and by inference in some previous cases.
- There has been debate about genotypic association with different sizes of CMN, and no data on genotype–outcome.
What does this study add?
- NRAS mosaicism was found in 68%, BRAF in 7% and double wild‐type in 25% of cases of CMN.
- NRAS was the commonest mutation in all sizes of CMN, but was nearly universal in projected adult size > 60 cm.
- BRAF is often associated with a distinct multinodular clinical/histological phenotype.
- Adverse outcomes did not differ between genotypes on current numbers.
Commentary
Rates of psoriasis in patients with palmoplantar pustulosis
Version of Record online: 09 August 2019
Research Letters
Deep dermatophytosis caused by Microsporum ferrugineum in a patient with CARD9 mutations
Version of Record online: 09 August 2019
Translational Research
Acute exanthemas: a prospective study of 98 adult patients with an emphasis on cytokinic and metagenomic investigation
Version of Record online: 09 August 2019
What's already known about this topic?
What does this study add?
- Acute exanthemas, especially maculopapular exanthemas, are a frequent reason for patients consulting emergency and dermatology departments.
- It is difficult to evaluate the aetiology of acute exanthema based on the clinical aspects.
- Few data are available on the investigations needed in routine practice, and no prospective series have been published.
What does this study add?
- Our study provides a global and prospective description of acute exanthemas.
- Cytokine analysis could help to investigate the pathophysiology of idiopathic eruptions.
- Metagenomic analysis provides new insights about the value of routine practice virological investigations.
- We show for the first time the feasibility of metagenomics analysis in the skin, which results question the interest of routine PCR and viral sérologies for the exploration of such acute exanthemas.
Case Report: Patient Safety
Acquired generalized lipodystrophy under immune checkpoint inhibition
Version of Record online: 09 August 2019
What's already known about this topic?
What does this study add?
- Anti‐programmed cell death (PD)1 agents are now a standard of care in the treatment of several cancers, including melanoma.
- Endocrine and cutaneous immune‐related adverse events (irAEs) are among the most frequent irAEs (14–30% and 30–40%, respectively) in patients treated with immune checkpoint inhibitors.
What does this study add?
- Acquired generalized lipodystrophy can occur during anti‐PD1 therapy and is associated with severe metabolic complications.
- With the increase in anti‐PD1 prescription in several cancer types, clinicians must be aware of the whole range of irAEs that may occur.
Open AccessGuideline
Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa
Version of Record online: 09 August 2019
Commentary
Nail acrylate allergy: the beauty, the beast and beyond
Version of Record online: 09 August 2019
Open AccessTranslational Research
Keratinocyte footprint assay discriminates antilaminin‐332 pemphigoid from all other forms of pemphigoid diseases
Version of Record online: 09 August 2019
What's already known about this topic?
What does this study add?
What is the translational message?
- Antilaminin‐332 mucous membrane pemphigoid is a severe form of pemphigoid, and patients may have an increased risk of malignancies.
- The diagnosis of antilaminin‐332 mucous membrane pemphigoid is complicated by the lack of specific commercial tests for antilaminin‐332 antibodies and can be confirmed only in specialized laboratories.
- Keratinocytes in culture need laminin‐332 for adhesion and migration and therefore deposit it on the bottom of the culture dish.
What does this study add?
- The keratinocyte footprint assay detects antilaminin‐332 autoantibodies in patient serum using the native laminin‐332 produced by cultured keratinocytes.
What is the translational message?
- The keratinocyte footprint assay is a fast and specific assay to confirm or rule out the presence of antilaminin‐332 autoantibodies.
Research Letters
Immunotherapeutic strategies for cutaneous squamous cell carcinoma prevention in xeroderma pigmentosum
Version of Record online: 07 August 2019
Paediatric Dermatology
Final congenital melanocytic naevi colour is determined by normal skin colour and unaltered by superficial removal techniques: a longitudinal study
Version of Record online: 07 August 2019
What's already known about this topic?
What does this study add?
- Final colour of congenital melanocytic naevi (CMN) is considered an important outcome after superficial removal techniques such as curettage, dermabrasion or laser ablation, and is often compared with colour at birth.
- The phenomenon of spontaneous lightening in CMN, in which naevi lighten gradually and sometimes dramatically during childhood, has been described but not systematically studied.
What does this study add?
- Final CMN colour in childhood is significantly associated with the individual's normal skin colour, and with MC1R genotype, and is therefore genetically determined.
- Final CMN colour is not predictable from CMN colour in the first 3 months of life.
- Superficial removal techniques do not alter the final colour of CMN.
Open AccessCommentary
Oxymatrine may represent an additional therapeutic tool in severe plaque psoriasis management
Version of Record online: 07 August 2019
Research Letters
Responsiveness of the EuroQol 5‐Dimension 3‐Level instrument, Dermatology Life Quality Index (DLQI) and DLQI‐Relevant for patients with psoriasis in the U.S.A.
Version of Record online: 06 August 2019
Research Letters
Incidence and prevalence of alopecia areata according to subtype: a nationwide, population‐based study in South Korea (2006–2015)
Version of Record online: 06 August 2019
Commentary
Stopping pachyonychia congenita plantar pain with a statin?
Version of Record online: 06 August 2019
Commentary
Into the (gluteal) fold: pilonidal disease and hidradenitis suppurativa – association or continuum?
Version of Record online: 06 August 2019
Research Letters
Etanercept biosimilar SB4 in the treatment of plaque‐type psoriasis and psoriatic arthritis: a single‐centre, observational, retrospective, real‐life study
Version of Record online: 05 August 2019
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